Incidental Mutation 'R0134:Macf1'
| ID |
21810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macf1
|
| Ensembl Gene |
ENSMUSG00000028649 |
| Gene Name |
microtubule-actin crosslinking factor 1 |
| Synonyms |
trabeculin alpha, Acf7, Aclp7 |
| MMRRC Submission |
038419-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001199136.1, NM_001199137.1; MGI:108559
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0134 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
123349633-123684360 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123432843 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 2835
(M2835V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082108]
[ENSMUST00000084301]
[ENSMUST00000097897]
[ENSMUST00000106213]
[ENSMUST00000106220]
[ENSMUST00000106224]
[ENSMUST00000134458]
[ENSMUST00000151346]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082108
AA Change: M2929V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000080755
Gene: ENSMUSG00000028649
AA Change: M2929V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
CH
|
80 |
179 |
5.63e-28 |
SMART |
|
CH
|
196 |
293 |
7.49e-24 |
SMART |
|
SPEC
|
317 |
420 |
4.11e0 |
SMART |
|
SPEC
|
583 |
680 |
4.32e-9 |
SMART |
|
SPEC
|
683 |
783 |
5.75e-5 |
SMART |
|
Blast:SPEC
|
790 |
955 |
4e-82 |
BLAST |
|
coiled coil region
|
1046 |
1067 |
N/A |
INTRINSIC |
|
SPEC
|
1278 |
1407 |
2.35e0 |
SMART |
|
SPEC
|
1425 |
1533 |
1.12e-7 |
SMART |
|
SPEC
|
1550 |
1658 |
3.94e-3 |
SMART |
|
SPEC
|
1818 |
1928 |
4.03e-9 |
SMART |
|
SPEC
|
1935 |
2041 |
1.75e-9 |
SMART |
|
SPEC
|
2048 |
2150 |
5.57e-3 |
SMART |
|
SPEC
|
2157 |
2256 |
4.56e0 |
SMART |
|
SPEC
|
2263 |
2394 |
3.46e-1 |
SMART |
|
SPEC
|
2401 |
2506 |
1.29e-7 |
SMART |
|
SPEC
|
2513 |
2617 |
1.19e-2 |
SMART |
|
SPEC
|
2624 |
2727 |
2.7e-1 |
SMART |
|
SPEC
|
2734 |
2837 |
4.99e-14 |
SMART |
|
SPEC
|
2844 |
2944 |
1.9e-5 |
SMART |
|
SPEC
|
2951 |
3057 |
2.83e0 |
SMART |
|
SPEC
|
3060 |
3162 |
2.14e-4 |
SMART |
|
SPEC
|
3169 |
3273 |
3.01e-8 |
SMART |
|
SPEC
|
3280 |
3382 |
4.48e-16 |
SMART |
|
SPEC
|
3389 |
3491 |
1.26e-10 |
SMART |
|
SPEC
|
3498 |
3600 |
2.26e-3 |
SMART |
|
SPEC
|
3607 |
3709 |
4.29e-4 |
SMART |
|
SPEC
|
3716 |
3817 |
9.99e-14 |
SMART |
|
SPEC
|
3824 |
3930 |
5.79e-2 |
SMART |
|
SPEC
|
3937 |
4039 |
6.59e-14 |
SMART |
|
SPEC
|
4046 |
4149 |
3.7e-17 |
SMART |
|
SPEC
|
4156 |
4258 |
1.16e-23 |
SMART |
|
SPEC
|
4265 |
4368 |
3.58e-15 |
SMART |
|
SPEC
|
4375 |
4477 |
2.61e-17 |
SMART |
|
SPEC
|
4484 |
4587 |
9.38e-19 |
SMART |
|
SPEC
|
4594 |
4695 |
2.29e-22 |
SMART |
|
SPEC
|
4702 |
4804 |
4.99e-14 |
SMART |
|
SPEC
|
4811 |
4941 |
1.45e-10 |
SMART |
|
EFh
|
4979 |
5007 |
5.08e-3 |
SMART |
|
EFh
|
5015 |
5043 |
1.17e-2 |
SMART |
|
GAS2
|
5054 |
5132 |
8.5e-54 |
SMART |
|
low complexity region
|
5154 |
5199 |
N/A |
INTRINSIC |
|
low complexity region
|
5248 |
5273 |
N/A |
INTRINSIC |
|
low complexity region
|
5290 |
5302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084301
AA Change: M4952V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081324
Gene: ENSMUSG00000028649
AA Change: M4952V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
CH
|
80 |
179 |
2.8e-30 |
SMART |
|
CH
|
196 |
293 |
3.6e-26 |
SMART |
|
SPEC
|
317 |
420 |
2.6e-2 |
SMART |
|
SPEC
|
583 |
680 |
2.7e-11 |
SMART |
|
SPEC
|
683 |
783 |
3.6e-7 |
SMART |
|
Blast:SPEC
|
790 |
955 |
5e-82 |
BLAST |
|
coiled coil region
|
1046 |
1067 |
N/A |
INTRINSIC |
|
SPEC
|
1278 |
1407 |
1.5e-2 |
SMART |
|
SPEC
|
1425 |
1533 |
6.9e-10 |
SMART |
|
PLEC
|
1530 |
1576 |
5.3e-6 |
SMART |
|
PLEC
|
1577 |
1614 |
1.2e-2 |
SMART |
|
PLEC
|
1616 |
1653 |
8.7e-2 |
SMART |
|
PLEC
|
1654 |
1691 |
8.3e-2 |
SMART |
|
PLEC
|
1695 |
1729 |
1.3e-1 |
SMART |
|
PLEC
|
1731 |
1767 |
1.4e-4 |
SMART |
|
PLEC
|
1768 |
1805 |
2e-12 |
SMART |
|
PLEC
|
1808 |
1843 |
5.2e-4 |
SMART |
|
PLEC
|
1844 |
1881 |
4e-2 |
SMART |
|
PLEC
|
1884 |
1919 |
1.9e0 |
SMART |
|
low complexity region
|
1986 |
1997 |
N/A |
INTRINSIC |
|
low complexity region
|
2219 |
2228 |
N/A |
INTRINSIC |
|
PLEC
|
2275 |
2312 |
4.5e-6 |
SMART |
|
PLEC
|
2347 |
2388 |
1.7e-7 |
SMART |
|
PLEC
|
2389 |
2426 |
1.2e-5 |
SMART |
|
PLEC
|
2447 |
2484 |
6.3e-3 |
SMART |
|
PLEC
|
2485 |
2522 |
2.1e-4 |
SMART |
|
PLEC
|
2523 |
2561 |
1.5e-1 |
SMART |
|
PLEC
|
2586 |
2633 |
3.1e-1 |
SMART |
|
PLEC
|
2671 |
2708 |
6.5e-10 |
SMART |
|
PLEC
|
2709 |
2746 |
2.3e-3 |
SMART |
|
low complexity region
|
2940 |
2950 |
N/A |
INTRINSIC |
|
coiled coil region
|
3355 |
3388 |
N/A |
INTRINSIC |
|
low complexity region
|
3419 |
3429 |
N/A |
INTRINSIC |
|
low complexity region
|
3555 |
3576 |
N/A |
INTRINSIC |
|
SPEC
|
3577 |
3683 |
7.1e-3 |
SMART |
|
SPEC
|
3841 |
3951 |
2.6e-11 |
SMART |
|
SPEC
|
3958 |
4064 |
1.1e-11 |
SMART |
|
SPEC
|
4071 |
4173 |
3.6e-5 |
SMART |
|
SPEC
|
4180 |
4279 |
2.9e-2 |
SMART |
|
SPEC
|
4286 |
4417 |
2.2e-3 |
SMART |
|
SPEC
|
4424 |
4529 |
8.2e-10 |
SMART |
|
SPEC
|
4536 |
4640 |
7.4e-5 |
SMART |
|
SPEC
|
4647 |
4750 |
1.7e-3 |
SMART |
|
SPEC
|
4757 |
4860 |
3.2e-16 |
SMART |
|
SPEC
|
4867 |
4967 |
1.2e-7 |
SMART |
|
SPEC
|
4974 |
5080 |
1.8e-2 |
SMART |
|
SPEC
|
5083 |
5185 |
1.3e-6 |
SMART |
|
SPEC
|
5192 |
5296 |
2e-10 |
SMART |
|
SPEC
|
5303 |
5405 |
2.8e-18 |
SMART |
|
SPEC
|
5412 |
5514 |
7.7e-13 |
SMART |
|
SPEC
|
5521 |
5623 |
1.5e-5 |
SMART |
|
SPEC
|
5630 |
5732 |
2.7e-6 |
SMART |
|
SPEC
|
5739 |
5840 |
6.1e-16 |
SMART |
|
SPEC
|
5847 |
5953 |
3.6e-4 |
SMART |
|
SPEC
|
5960 |
6062 |
4.1e-16 |
SMART |
|
SPEC
|
6069 |
6172 |
2.4e-19 |
SMART |
|
SPEC
|
6179 |
6281 |
7.6e-26 |
SMART |
|
SPEC
|
6288 |
6391 |
2.2e-17 |
SMART |
|
SPEC
|
6398 |
6500 |
1.6e-19 |
SMART |
|
SPEC
|
6507 |
6610 |
5.7e-21 |
SMART |
|
SPEC
|
6617 |
6718 |
1.5e-24 |
SMART |
|
SPEC
|
6725 |
6827 |
3.2e-16 |
SMART |
|
SPEC
|
6834 |
6964 |
9.4e-13 |
SMART |
|
EFh
|
7002 |
7030 |
2.4e-5 |
SMART |
|
EFh
|
7038 |
7066 |
5.8e-5 |
SMART |
|
GAS2
|
7077 |
7155 |
5.5e-56 |
SMART |
|
low complexity region
|
7177 |
7222 |
N/A |
INTRINSIC |
|
low complexity region
|
7271 |
7296 |
N/A |
INTRINSIC |
|
low complexity region
|
7313 |
7325 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097897
AA Change: M4956V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095507
Gene: ENSMUSG00000028649
AA Change: M4956V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
CH
|
80 |
179 |
5.63e-28 |
SMART |
|
CH
|
196 |
293 |
7.49e-24 |
SMART |
|
SPEC
|
317 |
420 |
4.11e0 |
SMART |
|
SPEC
|
583 |
680 |
4.32e-9 |
SMART |
|
SPEC
|
683 |
783 |
5.75e-5 |
SMART |
|
Blast:SPEC
|
790 |
955 |
4e-82 |
BLAST |
|
coiled coil region
|
1046 |
1067 |
N/A |
INTRINSIC |
|
SPEC
|
1278 |
1407 |
2.35e0 |
SMART |
|
SPEC
|
1425 |
1533 |
1.12e-7 |
SMART |
|
PLEC
|
1530 |
1576 |
8.58e-4 |
SMART |
|
PLEC
|
1577 |
1614 |
1.9e0 |
SMART |
|
PLEC
|
1616 |
1653 |
1.38e1 |
SMART |
|
PLEC
|
1654 |
1691 |
1.3e1 |
SMART |
|
PLEC
|
1695 |
1729 |
2.1e1 |
SMART |
|
PLEC
|
1731 |
1767 |
2.23e-2 |
SMART |
|
PLEC
|
1768 |
1805 |
3.32e-10 |
SMART |
|
PLEC
|
1808 |
1843 |
8.32e-2 |
SMART |
|
PLEC
|
1844 |
1881 |
6.42e0 |
SMART |
|
PLEC
|
1884 |
1919 |
3e2 |
SMART |
|
low complexity region
|
1986 |
1997 |
N/A |
INTRINSIC |
|
low complexity region
|
2219 |
2228 |
N/A |
INTRINSIC |
|
PLEC
|
2275 |
2312 |
6.97e-4 |
SMART |
|
PLEC
|
2347 |
2388 |
2.68e-5 |
SMART |
|
PLEC
|
2389 |
2426 |
1.84e-3 |
SMART |
|
PLEC
|
2447 |
2484 |
1.01e0 |
SMART |
|
PLEC
|
2485 |
2522 |
3.38e-2 |
SMART |
|
PLEC
|
2523 |
2561 |
2.39e1 |
SMART |
|
PLEC
|
2586 |
2633 |
4.99e1 |
SMART |
|
PLEC
|
2671 |
2708 |
1.05e-7 |
SMART |
|
PLEC
|
2709 |
2746 |
3.57e-1 |
SMART |
|
low complexity region
|
2940 |
2950 |
N/A |
INTRINSIC |
|
coiled coil region
|
3355 |
3388 |
N/A |
INTRINSIC |
|
low complexity region
|
3419 |
3429 |
N/A |
INTRINSIC |
|
low complexity region
|
3555 |
3576 |
N/A |
INTRINSIC |
|
SPEC
|
3577 |
3685 |
3.94e-3 |
SMART |
|
SPEC
|
3845 |
3955 |
4.03e-9 |
SMART |
|
SPEC
|
3962 |
4068 |
1.75e-9 |
SMART |
|
SPEC
|
4075 |
4177 |
5.57e-3 |
SMART |
|
SPEC
|
4184 |
4283 |
4.56e0 |
SMART |
|
SPEC
|
4290 |
4421 |
3.46e-1 |
SMART |
|
SPEC
|
4428 |
4533 |
1.29e-7 |
SMART |
|
SPEC
|
4540 |
4644 |
1.19e-2 |
SMART |
|
SPEC
|
4651 |
4754 |
2.7e-1 |
SMART |
|
SPEC
|
4761 |
4864 |
4.99e-14 |
SMART |
|
SPEC
|
4871 |
4971 |
1.9e-5 |
SMART |
|
SPEC
|
4978 |
5084 |
2.83e0 |
SMART |
|
SPEC
|
5087 |
5189 |
2.14e-4 |
SMART |
|
SPEC
|
5196 |
5300 |
3.01e-8 |
SMART |
|
SPEC
|
5307 |
5409 |
4.48e-16 |
SMART |
|
SPEC
|
5416 |
5518 |
1.26e-10 |
SMART |
|
SPEC
|
5525 |
5627 |
2.26e-3 |
SMART |
|
SPEC
|
5634 |
5736 |
4.29e-4 |
SMART |
|
SPEC
|
5743 |
5844 |
9.99e-14 |
SMART |
|
SPEC
|
5851 |
5957 |
5.79e-2 |
SMART |
|
SPEC
|
5964 |
6066 |
6.59e-14 |
SMART |
|
SPEC
|
6073 |
6176 |
3.7e-17 |
SMART |
|
SPEC
|
6183 |
6285 |
1.16e-23 |
SMART |
|
SPEC
|
6292 |
6395 |
3.58e-15 |
SMART |
|
SPEC
|
6402 |
6504 |
2.61e-17 |
SMART |
|
SPEC
|
6511 |
6614 |
9.38e-19 |
SMART |
|
SPEC
|
6621 |
6722 |
2.29e-22 |
SMART |
|
SPEC
|
6729 |
6831 |
4.99e-14 |
SMART |
|
SPEC
|
6838 |
6968 |
1.45e-10 |
SMART |
|
EFh
|
7006 |
7034 |
5.08e-3 |
SMART |
|
EFh
|
7042 |
7070 |
1.17e-2 |
SMART |
|
GAS2
|
7081 |
7159 |
8.5e-54 |
SMART |
|
low complexity region
|
7181 |
7226 |
N/A |
INTRINSIC |
|
low complexity region
|
7275 |
7300 |
N/A |
INTRINSIC |
|
low complexity region
|
7317 |
7329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106213
AA Change: M3391V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101819
Gene: ENSMUSG00000028649
AA Change: M3391V
| Domain | Start | End | E-Value | Type |
|---|
|
PLEC
|
12 |
49 |
1.9e0 |
SMART |
|
PLEC
|
51 |
88 |
1.38e1 |
SMART |
|
PLEC
|
89 |
126 |
1.3e1 |
SMART |
|
PLEC
|
130 |
164 |
2.1e1 |
SMART |
|
PLEC
|
166 |
202 |
2.23e-2 |
SMART |
|
PLEC
|
203 |
240 |
3.32e-10 |
SMART |
|
PLEC
|
243 |
278 |
8.32e-2 |
SMART |
|
PLEC
|
279 |
316 |
6.42e0 |
SMART |
|
PLEC
|
319 |
354 |
3e2 |
SMART |
|
low complexity region
|
421 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
|
PLEC
|
710 |
747 |
6.97e-4 |
SMART |
|
PLEC
|
782 |
823 |
2.68e-5 |
SMART |
|
PLEC
|
824 |
861 |
1.84e-3 |
SMART |
|
PLEC
|
882 |
919 |
1.01e0 |
SMART |
|
PLEC
|
920 |
957 |
3.38e-2 |
SMART |
|
PLEC
|
958 |
996 |
2.39e1 |
SMART |
|
PLEC
|
1021 |
1068 |
4.99e1 |
SMART |
|
PLEC
|
1106 |
1143 |
1.05e-7 |
SMART |
|
PLEC
|
1144 |
1181 |
3.57e-1 |
SMART |
|
low complexity region
|
1375 |
1385 |
N/A |
INTRINSIC |
|
coiled coil region
|
1790 |
1823 |
N/A |
INTRINSIC |
|
low complexity region
|
1854 |
1864 |
N/A |
INTRINSIC |
|
low complexity region
|
1990 |
2011 |
N/A |
INTRINSIC |
|
SPEC
|
2012 |
2120 |
3.94e-3 |
SMART |
|
SPEC
|
2280 |
2390 |
4.03e-9 |
SMART |
|
SPEC
|
2397 |
2503 |
1.75e-9 |
SMART |
|
SPEC
|
2510 |
2612 |
5.57e-3 |
SMART |
|
SPEC
|
2619 |
2718 |
4.56e0 |
SMART |
|
SPEC
|
2725 |
2856 |
3.46e-1 |
SMART |
|
SPEC
|
2863 |
2968 |
1.29e-7 |
SMART |
|
SPEC
|
2975 |
3079 |
1.19e-2 |
SMART |
|
SPEC
|
3086 |
3189 |
2.7e-1 |
SMART |
|
SPEC
|
3196 |
3299 |
4.99e-14 |
SMART |
|
SPEC
|
3306 |
3406 |
1.9e-5 |
SMART |
|
SPEC
|
3413 |
3519 |
2.83e0 |
SMART |
|
SPEC
|
3522 |
3624 |
2.14e-4 |
SMART |
|
SPEC
|
3631 |
3735 |
3.01e-8 |
SMART |
|
SPEC
|
3742 |
3844 |
4.48e-16 |
SMART |
|
SPEC
|
3851 |
3953 |
4.15e-11 |
SMART |
|
SPEC
|
3960 |
4062 |
7.07e-5 |
SMART |
|
SPEC
|
4069 |
4171 |
2.26e-3 |
SMART |
|
SPEC
|
4178 |
4280 |
4.29e-4 |
SMART |
|
SPEC
|
4287 |
4388 |
9.99e-14 |
SMART |
|
SPEC
|
4395 |
4501 |
5.79e-2 |
SMART |
|
SPEC
|
4508 |
4610 |
6.59e-14 |
SMART |
|
SPEC
|
4617 |
4720 |
3.7e-17 |
SMART |
|
SPEC
|
4727 |
4829 |
1.16e-23 |
SMART |
|
SPEC
|
4836 |
4939 |
3.58e-15 |
SMART |
|
SPEC
|
4946 |
5048 |
2.61e-17 |
SMART |
|
SPEC
|
5055 |
5158 |
9.38e-19 |
SMART |
|
SPEC
|
5165 |
5266 |
2.29e-22 |
SMART |
|
SPEC
|
5273 |
5375 |
4.99e-14 |
SMART |
|
SPEC
|
5382 |
5512 |
1.45e-10 |
SMART |
|
EFh
|
5546 |
5574 |
5.08e-3 |
SMART |
|
EFh
|
5582 |
5610 |
1.17e-2 |
SMART |
|
GAS2
|
5621 |
5699 |
8.5e-54 |
SMART |
|
low complexity region
|
5721 |
5766 |
N/A |
INTRINSIC |
|
low complexity region
|
5815 |
5840 |
N/A |
INTRINSIC |
|
low complexity region
|
5857 |
5869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106220
AA Change: M3079V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000101827
Gene: ENSMUSG00000028649
AA Change: M3079V
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
347 |
444 |
7.49e-24 |
SMART |
|
SPEC
|
468 |
571 |
4.11e0 |
SMART |
|
SPEC
|
734 |
831 |
4.32e-9 |
SMART |
|
SPEC
|
834 |
934 |
5.75e-5 |
SMART |
|
Blast:SPEC
|
941 |
1106 |
5e-82 |
BLAST |
|
coiled coil region
|
1197 |
1218 |
N/A |
INTRINSIC |
|
SPEC
|
1429 |
1558 |
2.35e0 |
SMART |
|
SPEC
|
1576 |
1684 |
1.12e-7 |
SMART |
|
SPEC
|
1701 |
1809 |
1.85e-1 |
SMART |
|
SPEC
|
1968 |
2078 |
4.03e-9 |
SMART |
|
SPEC
|
2085 |
2191 |
1.75e-9 |
SMART |
|
SPEC
|
2198 |
2300 |
5.57e-3 |
SMART |
|
SPEC
|
2307 |
2406 |
4.56e0 |
SMART |
|
SPEC
|
2413 |
2544 |
3.46e-1 |
SMART |
|
SPEC
|
2551 |
2656 |
1.29e-7 |
SMART |
|
SPEC
|
2663 |
2767 |
1.19e-2 |
SMART |
|
SPEC
|
2774 |
2877 |
2.7e-1 |
SMART |
|
SPEC
|
2884 |
2987 |
4.99e-14 |
SMART |
|
SPEC
|
2994 |
3094 |
1.9e-5 |
SMART |
|
SPEC
|
3101 |
3207 |
2.83e0 |
SMART |
|
SPEC
|
3210 |
3312 |
2.14e-4 |
SMART |
|
SPEC
|
3319 |
3423 |
3.01e-8 |
SMART |
|
SPEC
|
3430 |
3532 |
4.48e-16 |
SMART |
|
SPEC
|
3539 |
3641 |
1.26e-10 |
SMART |
|
SPEC
|
3648 |
3750 |
2.26e-3 |
SMART |
|
SPEC
|
3757 |
3859 |
4.29e-4 |
SMART |
|
SPEC
|
3866 |
3967 |
9.99e-14 |
SMART |
|
SPEC
|
3974 |
4080 |
5.79e-2 |
SMART |
|
SPEC
|
4087 |
4189 |
6.59e-14 |
SMART |
|
SPEC
|
4196 |
4299 |
3.7e-17 |
SMART |
|
SPEC
|
4306 |
4408 |
1.16e-23 |
SMART |
|
SPEC
|
4415 |
4518 |
3.58e-15 |
SMART |
|
SPEC
|
4525 |
4627 |
2.61e-17 |
SMART |
|
SPEC
|
4634 |
4737 |
9.38e-19 |
SMART |
|
SPEC
|
4744 |
4845 |
2.29e-22 |
SMART |
|
SPEC
|
4852 |
4954 |
4.99e-14 |
SMART |
|
SPEC
|
4961 |
5091 |
1.45e-10 |
SMART |
|
EFh
|
5129 |
5157 |
5.08e-3 |
SMART |
|
EFh
|
5165 |
5193 |
1.17e-2 |
SMART |
|
GAS2
|
5204 |
5282 |
1.59e-53 |
SMART |
|
low complexity region
|
5304 |
5349 |
N/A |
INTRINSIC |
|
low complexity region
|
5398 |
5423 |
N/A |
INTRINSIC |
|
low complexity region
|
5440 |
5452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106224
AA Change: M4954V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101831
Gene: ENSMUSG00000028649
AA Change: M4954V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
CH
|
80 |
179 |
5.63e-28 |
SMART |
|
CH
|
196 |
293 |
7.49e-24 |
SMART |
|
SPEC
|
317 |
420 |
4.11e0 |
SMART |
|
SPEC
|
583 |
680 |
4.32e-9 |
SMART |
|
SPEC
|
683 |
783 |
5.75e-5 |
SMART |
|
Blast:SPEC
|
790 |
955 |
5e-82 |
BLAST |
|
coiled coil region
|
1046 |
1067 |
N/A |
INTRINSIC |
|
SPEC
|
1278 |
1407 |
2.35e0 |
SMART |
|
SPEC
|
1425 |
1533 |
1.12e-7 |
SMART |
|
PLEC
|
1530 |
1576 |
8.58e-4 |
SMART |
|
PLEC
|
1577 |
1614 |
1.9e0 |
SMART |
|
PLEC
|
1616 |
1653 |
1.38e1 |
SMART |
|
PLEC
|
1654 |
1691 |
1.3e1 |
SMART |
|
PLEC
|
1695 |
1729 |
2.1e1 |
SMART |
|
PLEC
|
1731 |
1767 |
2.23e-2 |
SMART |
|
PLEC
|
1768 |
1805 |
3.32e-10 |
SMART |
|
PLEC
|
1808 |
1843 |
8.32e-2 |
SMART |
|
PLEC
|
1844 |
1881 |
6.42e0 |
SMART |
|
PLEC
|
1884 |
1919 |
3e2 |
SMART |
|
low complexity region
|
1986 |
1997 |
N/A |
INTRINSIC |
|
low complexity region
|
2219 |
2228 |
N/A |
INTRINSIC |
|
PLEC
|
2275 |
2312 |
6.97e-4 |
SMART |
|
PLEC
|
2347 |
2388 |
2.68e-5 |
SMART |
|
PLEC
|
2389 |
2426 |
1.84e-3 |
SMART |
|
PLEC
|
2447 |
2484 |
1.01e0 |
SMART |
|
PLEC
|
2485 |
2522 |
3.38e-2 |
SMART |
|
PLEC
|
2523 |
2561 |
2.39e1 |
SMART |
|
PLEC
|
2586 |
2633 |
4.99e1 |
SMART |
|
PLEC
|
2671 |
2708 |
1.05e-7 |
SMART |
|
PLEC
|
2709 |
2746 |
3.57e-1 |
SMART |
|
low complexity region
|
2940 |
2950 |
N/A |
INTRINSIC |
|
coiled coil region
|
3355 |
3388 |
N/A |
INTRINSIC |
|
low complexity region
|
3419 |
3429 |
N/A |
INTRINSIC |
|
low complexity region
|
3555 |
3576 |
N/A |
INTRINSIC |
|
SPEC
|
3577 |
3685 |
3.94e-3 |
SMART |
|
SPEC
|
3845 |
3955 |
4.03e-9 |
SMART |
|
SPEC
|
3962 |
4068 |
1.75e-9 |
SMART |
|
SPEC
|
4075 |
4177 |
5.57e-3 |
SMART |
|
SPEC
|
4184 |
4283 |
4.56e0 |
SMART |
|
SPEC
|
4290 |
4421 |
3.46e-1 |
SMART |
|
SPEC
|
4428 |
4533 |
1.29e-7 |
SMART |
|
SPEC
|
4540 |
4642 |
9.34e-2 |
SMART |
|
SPEC
|
4649 |
4752 |
2.7e-1 |
SMART |
|
SPEC
|
4759 |
4862 |
4.99e-14 |
SMART |
|
SPEC
|
4869 |
4969 |
1.9e-5 |
SMART |
|
SPEC
|
4976 |
5082 |
2.83e0 |
SMART |
|
SPEC
|
5085 |
5187 |
2.14e-4 |
SMART |
|
SPEC
|
5194 |
5298 |
3.01e-8 |
SMART |
|
SPEC
|
5305 |
5407 |
4.48e-16 |
SMART |
|
SPEC
|
5414 |
5516 |
1.26e-10 |
SMART |
|
SPEC
|
5523 |
5625 |
2.26e-3 |
SMART |
|
SPEC
|
5632 |
5734 |
4.29e-4 |
SMART |
|
SPEC
|
5741 |
5842 |
9.99e-14 |
SMART |
|
SPEC
|
5849 |
5955 |
5.79e-2 |
SMART |
|
SPEC
|
5962 |
6064 |
6.59e-14 |
SMART |
|
SPEC
|
6071 |
6174 |
3.7e-17 |
SMART |
|
SPEC
|
6181 |
6283 |
1.16e-23 |
SMART |
|
SPEC
|
6290 |
6393 |
3.58e-15 |
SMART |
|
SPEC
|
6400 |
6502 |
2.61e-17 |
SMART |
|
SPEC
|
6509 |
6612 |
9.38e-19 |
SMART |
|
SPEC
|
6619 |
6720 |
2.29e-22 |
SMART |
|
SPEC
|
6727 |
6829 |
4.99e-14 |
SMART |
|
SPEC
|
6836 |
6966 |
1.45e-10 |
SMART |
|
EFh
|
7004 |
7032 |
5.08e-3 |
SMART |
|
EFh
|
7040 |
7068 |
1.17e-2 |
SMART |
|
GAS2
|
7079 |
7157 |
8.5e-54 |
SMART |
|
low complexity region
|
7179 |
7224 |
N/A |
INTRINSIC |
|
low complexity region
|
7273 |
7298 |
N/A |
INTRINSIC |
|
low complexity region
|
7315 |
7327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134458
AA Change: M2040V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119885
Gene: ENSMUSG00000028649
AA Change: M2040V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3R6N|B
|
3 |
168 |
5e-37 |
PDB |
|
coiled coil region
|
178 |
199 |
N/A |
INTRINSIC |
|
SPEC
|
410 |
539 |
2.35e0 |
SMART |
|
SPEC
|
557 |
665 |
1.12e-7 |
SMART |
|
SPEC
|
682 |
790 |
3.94e-3 |
SMART |
|
SPEC
|
950 |
1060 |
4.03e-9 |
SMART |
|
SPEC
|
1067 |
1173 |
1.75e-9 |
SMART |
|
SPEC
|
1180 |
1282 |
5.57e-3 |
SMART |
|
SPEC
|
1289 |
1388 |
4.56e0 |
SMART |
|
SPEC
|
1395 |
1505 |
3.18e-1 |
SMART |
|
SPEC
|
1512 |
1617 |
1.29e-7 |
SMART |
|
SPEC
|
1624 |
1728 |
1.19e-2 |
SMART |
|
SPEC
|
1735 |
1838 |
2.7e-1 |
SMART |
|
SPEC
|
1845 |
1948 |
4.99e-14 |
SMART |
|
SPEC
|
1955 |
2055 |
1.9e-5 |
SMART |
|
SPEC
|
2062 |
2168 |
2.83e0 |
SMART |
|
SPEC
|
2171 |
2273 |
2.14e-4 |
SMART |
|
SPEC
|
2280 |
2384 |
3.01e-8 |
SMART |
|
SPEC
|
2391 |
2493 |
4.48e-16 |
SMART |
|
SPEC
|
2500 |
2602 |
1.26e-10 |
SMART |
|
SPEC
|
2609 |
2711 |
2.26e-3 |
SMART |
|
SPEC
|
2718 |
2820 |
4.29e-4 |
SMART |
|
SPEC
|
2827 |
2928 |
9.99e-14 |
SMART |
|
SPEC
|
2935 |
3041 |
5.79e-2 |
SMART |
|
SPEC
|
3048 |
3150 |
6.59e-14 |
SMART |
|
SPEC
|
3157 |
3260 |
3.7e-17 |
SMART |
|
SPEC
|
3267 |
3369 |
1.16e-23 |
SMART |
|
SPEC
|
3376 |
3479 |
3.58e-15 |
SMART |
|
SPEC
|
3486 |
3588 |
2.61e-17 |
SMART |
|
SPEC
|
3595 |
3698 |
9.38e-19 |
SMART |
|
SPEC
|
3705 |
3806 |
2.29e-22 |
SMART |
|
SPEC
|
3813 |
3915 |
4.99e-14 |
SMART |
|
SPEC
|
3922 |
4052 |
1.45e-10 |
SMART |
|
EFh
|
4086 |
4114 |
5.08e-3 |
SMART |
|
EFh
|
4122 |
4150 |
1.17e-2 |
SMART |
|
GAS2
|
4161 |
4233 |
2.28e-54 |
SMART |
|
low complexity region
|
4255 |
4300 |
N/A |
INTRINSIC |
|
low complexity region
|
4349 |
4374 |
N/A |
INTRINSIC |
|
low complexity region
|
4391 |
4403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151346
AA Change: M2835V
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114568
Gene: ENSMUSG00000028649
AA Change: M2835V
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
4 |
85 |
4.88e-14 |
SMART |
|
CH
|
102 |
199 |
7.49e-24 |
SMART |
|
SPEC
|
223 |
326 |
4.11e0 |
SMART |
|
SPEC
|
489 |
586 |
4.32e-9 |
SMART |
|
SPEC
|
589 |
689 |
5.75e-5 |
SMART |
|
Blast:SPEC
|
696 |
861 |
3e-82 |
BLAST |
|
coiled coil region
|
952 |
973 |
N/A |
INTRINSIC |
|
SPEC
|
1184 |
1313 |
2.35e0 |
SMART |
|
SPEC
|
1331 |
1439 |
1.12e-7 |
SMART |
|
SPEC
|
1456 |
1564 |
3.94e-3 |
SMART |
|
SPEC
|
1724 |
1834 |
4.03e-9 |
SMART |
|
SPEC
|
1841 |
1947 |
1.75e-9 |
SMART |
|
SPEC
|
1954 |
2056 |
5.57e-3 |
SMART |
|
SPEC
|
2063 |
2162 |
4.56e0 |
SMART |
|
SPEC
|
2169 |
2300 |
3.46e-1 |
SMART |
|
SPEC
|
2307 |
2412 |
1.29e-7 |
SMART |
|
SPEC
|
2419 |
2523 |
1.19e-2 |
SMART |
|
SPEC
|
2530 |
2633 |
2.7e-1 |
SMART |
|
SPEC
|
2640 |
2743 |
4.99e-14 |
SMART |
|
SPEC
|
2750 |
2850 |
1.9e-5 |
SMART |
|
SPEC
|
2857 |
2963 |
2.83e0 |
SMART |
|
SPEC
|
2966 |
3068 |
2.14e-4 |
SMART |
|
SPEC
|
3075 |
3179 |
3.01e-8 |
SMART |
|
SPEC
|
3186 |
3288 |
4.48e-16 |
SMART |
|
SPEC
|
3295 |
3397 |
4.15e-11 |
SMART |
|
SPEC
|
3404 |
3506 |
7.07e-5 |
SMART |
|
SPEC
|
3513 |
3615 |
2.26e-3 |
SMART |
|
SPEC
|
3622 |
3724 |
4.29e-4 |
SMART |
|
SPEC
|
3731 |
3832 |
9.99e-14 |
SMART |
|
SPEC
|
3839 |
3945 |
5.79e-2 |
SMART |
|
SPEC
|
3952 |
4054 |
6.59e-14 |
SMART |
|
SPEC
|
4061 |
4164 |
3.7e-17 |
SMART |
|
SPEC
|
4171 |
4273 |
1.16e-23 |
SMART |
|
SPEC
|
4280 |
4383 |
3.58e-15 |
SMART |
|
SPEC
|
4390 |
4492 |
2.61e-17 |
SMART |
|
SPEC
|
4499 |
4602 |
9.38e-19 |
SMART |
|
SPEC
|
4609 |
4710 |
2.29e-22 |
SMART |
|
SPEC
|
4717 |
4819 |
4.99e-14 |
SMART |
|
SPEC
|
4826 |
4956 |
1.45e-10 |
SMART |
|
EFh
|
4990 |
5018 |
5.08e-3 |
SMART |
|
EFh
|
5026 |
5054 |
1.17e-2 |
SMART |
|
GAS2
|
5065 |
5137 |
2.28e-54 |
SMART |
|
low complexity region
|
5159 |
5204 |
N/A |
INTRINSIC |
|
low complexity region
|
5253 |
5278 |
N/A |
INTRINSIC |
|
low complexity region
|
5295 |
5307 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0955 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.4%
- 20x: 93.3%
|
| Validation Efficiency |
100% (59/59) |
| MGI Phenotype |
Strain: 3652899; 4831019
Lethality: E7-E8
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before somitogenesis with failure of the primitive streak to form. Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(784) : Targeted(4) Gene trapped(780)
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009O20Rik |
G |
A |
18: 38,261,264 |
V505I |
probably benign |
Het |
| 1110059E24Rik |
T |
C |
19: 21,598,201 |
|
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,540,155 |
L1470Q |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,444,328 |
V70L |
probably benign |
Het |
| AW549877 |
T |
C |
15: 3,986,294 |
K263E |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,512,950 |
I387T |
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,274,942 |
D492N |
possibly damaging |
Het |
| Cd59b |
G |
A |
2: 104,078,941 |
|
probably null |
Het |
| Ddx50 |
A |
T |
10: 62,621,377 |
|
probably benign |
Het |
| Dnlz |
T |
C |
2: 26,351,368 |
N116S |
probably damaging |
Het |
| Efcab14 |
T |
C |
4: 115,740,531 |
F108L |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,367,710 |
N736S |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,971,946 |
D908G |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 33,006,804 |
T608A |
possibly damaging |
Het |
| Hdac2 |
T |
A |
10: 36,989,184 |
D131E |
probably benign |
Het |
| Hes1 |
T |
C |
16: 30,067,250 |
V224A |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,766,180 |
Q277K |
probably damaging |
Het |
| Ighv15-2 |
T |
G |
12: 114,565,037 |
|
probably benign |
Het |
| Il3 |
A |
G |
11: 54,265,680 |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,111,342 |
M91L |
probably benign |
Het |
| Kctd21 |
T |
A |
7: 97,348,091 |
I257N |
probably benign |
Het |
| Kif16b |
A |
T |
2: 142,672,375 |
S1215T |
probably benign |
Het |
| Lhx9 |
A |
T |
1: 138,838,679 |
C124S |
probably damaging |
Het |
| Lipo4 |
A |
G |
19: 33,501,606 |
V278A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,596,983 |
E142G |
probably damaging |
Het |
| Map9 |
G |
A |
3: 82,359,983 |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,334,454 |
|
probably benign |
Het |
| Mndal |
A |
T |
1: 173,857,513 |
|
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,176,134 |
R133Q |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,400,437 |
T29S |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,435,925 |
C546Y |
probably damaging |
Het |
| Olfr1055 |
T |
C |
2: 86,347,728 |
I13V |
possibly damaging |
Het |
| Olfr307 |
A |
G |
7: 86,335,595 |
I267T |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,166,511 |
D123G |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,228,243 |
R53G |
probably benign |
Het |
| Pnp2 |
T |
C |
14: 50,963,177 |
F100S |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,510,777 |
L47P |
possibly damaging |
Het |
| Ptar1 |
T |
A |
19: 23,718,095 |
C309S |
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,657,476 |
S327P |
probably damaging |
Het |
| Siah2 |
A |
G |
3: 58,676,115 |
V250A |
probably damaging |
Het |
| Siglecg |
G |
A |
7: 43,411,171 |
G325D |
probably damaging |
Het |
| Slc10a7 |
T |
A |
8: 78,697,158 |
|
probably null |
Het |
| Slc9a1 |
A |
G |
4: 133,420,605 |
K645E |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,637,324 |
L302P |
probably damaging |
Het |
| Smyd1 |
G |
T |
6: 71,216,765 |
T392N |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,378,043 |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,674,472 |
L57Q |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 50,829,693 |
V2269I |
possibly damaging |
Het |
| Tpd52l1 |
A |
G |
10: 31,379,256 |
S32P |
probably damaging |
Het |
| Tsfm |
A |
G |
10: 127,022,929 |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,710,124 |
R34173W |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,793,130 |
V15368L |
possibly damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,175,049 |
V125L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,887,261 |
I3272T |
probably benign |
Het |
| Zfp108 |
A |
G |
7: 24,260,467 |
H161R |
probably benign |
Het |
| Zfp518b |
A |
G |
5: 38,674,659 |
M1T |
probably null |
Het |
|
| Other mutations in Macf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Macf1
|
APN |
4 |
123382122 |
missense |
probably damaging |
0.99 |
|
IGL01293:Macf1
|
APN |
4 |
123471311 |
missense |
probably benign |
0.00 |
|
IGL01307:Macf1
|
APN |
4 |
123383129 |
missense |
probably damaging |
1.00 |
|
IGL01314:Macf1
|
APN |
4 |
123486720 |
missense |
probably damaging |
1.00 |
|
IGL01321:Macf1
|
APN |
4 |
123440774 |
missense |
probably damaging |
1.00 |
|
IGL01327:Macf1
|
APN |
4 |
123509912 |
missense |
probably benign |
0.20 |
|
IGL01365:Macf1
|
APN |
4 |
123391169 |
missense |
probably damaging |
1.00 |
|
IGL01465:Macf1
|
APN |
4 |
123490721 |
missense |
probably benign |
0.00 |
|
IGL01527:Macf1
|
APN |
4 |
123493160 |
missense |
possibly damaging |
0.93 |
|
IGL01533:Macf1
|
APN |
4 |
123473873 |
missense |
probably damaging |
1.00 |
|
IGL01539:Macf1
|
APN |
4 |
123395908 |
splice site |
probably benign |
|
|
IGL01543:Macf1
|
APN |
4 |
123401457 |
missense |
probably damaging |
1.00 |
|
IGL01553:Macf1
|
APN |
4 |
123493163 |
nonsense |
probably null |
|
|
IGL01558:Macf1
|
APN |
4 |
123453005 |
missense |
probably benign |
0.00 |
|
IGL01633:Macf1
|
APN |
4 |
123502171 |
missense |
probably damaging |
0.99 |
|
IGL01684:Macf1
|
APN |
4 |
123465930 |
missense |
probably damaging |
1.00 |
|
IGL01715:Macf1
|
APN |
4 |
123391086 |
missense |
probably damaging |
1.00 |
|
IGL01844:Macf1
|
APN |
4 |
123440692 |
missense |
probably benign |
0.34 |
|
IGL01870:Macf1
|
APN |
4 |
123474113 |
missense |
probably damaging |
0.99 |
|
IGL01916:Macf1
|
APN |
4 |
123441630 |
missense |
probably damaging |
1.00 |
|
IGL01916:Macf1
|
APN |
4 |
123476037 |
missense |
probably damaging |
1.00 |
|
IGL01923:Macf1
|
APN |
4 |
123380444 |
missense |
possibly damaging |
0.46 |
|
IGL02017:Macf1
|
APN |
4 |
123499931 |
missense |
probably damaging |
1.00 |
|
IGL02022:Macf1
|
APN |
4 |
123391049 |
critical splice donor site |
probably null |
|
|
IGL02084:Macf1
|
APN |
4 |
123432603 |
missense |
probably benign |
0.02 |
|
IGL02084:Macf1
|
APN |
4 |
123459374 |
missense |
probably damaging |
1.00 |
|
IGL02142:Macf1
|
APN |
4 |
123472049 |
missense |
probably benign |
0.11 |
|
IGL02151:Macf1
|
APN |
4 |
123371766 |
splice site |
probably benign |
|
|
IGL02164:Macf1
|
APN |
4 |
123480272 |
missense |
probably benign |
0.03 |
|
IGL02174:Macf1
|
APN |
4 |
123491794 |
missense |
probably damaging |
1.00 |
|
IGL02229:Macf1
|
APN |
4 |
123509826 |
missense |
probably damaging |
1.00 |
|
IGL02277:Macf1
|
APN |
4 |
123486704 |
missense |
probably damaging |
1.00 |
|
IGL02283:Macf1
|
APN |
4 |
123471375 |
missense |
probably benign |
0.01 |
|
IGL02314:Macf1
|
APN |
4 |
123444837 |
missense |
probably damaging |
0.99 |
|
IGL02327:Macf1
|
APN |
4 |
123471730 |
missense |
probably benign |
0.06 |
|
IGL02348:Macf1
|
APN |
4 |
123512866 |
missense |
probably damaging |
1.00 |
|
IGL02441:Macf1
|
APN |
4 |
123387236 |
missense |
probably damaging |
1.00 |
|
IGL02585:Macf1
|
APN |
4 |
123472284 |
missense |
probably benign |
0.00 |
|
IGL02602:Macf1
|
APN |
4 |
123355163 |
missense |
probably damaging |
1.00 |
|
IGL03204:Macf1
|
APN |
4 |
123355277 |
splice site |
probably benign |
|
|
anakex
|
UTSW |
4 |
123408271 |
missense |
probably damaging |
0.97 |
|
esfuerzo
|
UTSW |
4 |
123476129 |
missense |
probably benign |
0.22 |
|
Royal_flush
|
UTSW |
4 |
123365355 |
splice site |
probably null |
|
|
standard
|
UTSW |
4 |
123486406 |
missense |
probably damaging |
1.00 |
|
suspension
|
UTSW |
4 |
123497755 |
missense |
probably damaging |
1.00 |
|
voragine
|
UTSW |
4 |
123355102 |
missense |
probably damaging |
1.00 |
|
BB010:Macf1
|
UTSW |
4 |
123409651 |
missense |
probably benign |
0.00 |
|
BB020:Macf1
|
UTSW |
4 |
123409651 |
missense |
probably benign |
0.00 |
|
H8562:Macf1
|
UTSW |
4 |
123466040 |
missense |
probably benign |
0.13 |
|
IGL03052:Macf1
|
UTSW |
4 |
123387395 |
missense |
probably damaging |
1.00 |
|
N/A - 535:Macf1
|
UTSW |
4 |
123473808 |
missense |
possibly damaging |
0.82 |
|
PIT4576001:Macf1
|
UTSW |
4 |
123473321 |
missense |
probably benign |
0.43 |
|
R0021:Macf1
|
UTSW |
4 |
123475577 |
missense |
probably damaging |
1.00 |
|
R0023:Macf1
|
UTSW |
4 |
123488314 |
splice site |
probably benign |
|
|
R0023:Macf1
|
UTSW |
4 |
123488314 |
splice site |
probably benign |
|
|
R0028:Macf1
|
UTSW |
4 |
123382102 |
missense |
probably damaging |
1.00 |
|
R0066:Macf1
|
UTSW |
4 |
123432150 |
nonsense |
probably null |
|
|
R0066:Macf1
|
UTSW |
4 |
123432150 |
nonsense |
probably null |
|
|
R0067:Macf1
|
UTSW |
4 |
123475248 |
missense |
possibly damaging |
0.90 |
|
R0067:Macf1
|
UTSW |
4 |
123475248 |
missense |
possibly damaging |
0.90 |
|
R0078:Macf1
|
UTSW |
4 |
123473868 |
missense |
probably damaging |
1.00 |
|
R0106:Macf1
|
UTSW |
4 |
123408564 |
missense |
probably benign |
0.00 |
|
R0123:Macf1
|
UTSW |
4 |
123432843 |
missense |
possibly damaging |
0.78 |
|
R0129:Macf1
|
UTSW |
4 |
123433275 |
missense |
probably damaging |
1.00 |
|
R0138:Macf1
|
UTSW |
4 |
123440747 |
missense |
probably damaging |
1.00 |
|
R0145:Macf1
|
UTSW |
4 |
123387397 |
missense |
probably damaging |
1.00 |
|
R0195:Macf1
|
UTSW |
4 |
123434916 |
missense |
probably damaging |
0.99 |
|
R0227:Macf1
|
UTSW |
4 |
123399391 |
missense |
probably benign |
0.14 |
|
R0233:Macf1
|
UTSW |
4 |
123450127 |
splice site |
probably benign |
|
|
R0254:Macf1
|
UTSW |
4 |
123432779 |
missense |
probably damaging |
1.00 |
|
R0357:Macf1
|
UTSW |
4 |
123457983 |
missense |
probably damaging |
1.00 |
|
R0398:Macf1
|
UTSW |
4 |
123351017 |
missense |
probably damaging |
1.00 |
|
R0413:Macf1
|
UTSW |
4 |
123472269 |
missense |
probably benign |
|
|
R0426:Macf1
|
UTSW |
4 |
123483660 |
nonsense |
probably null |
|
|
R0441:Macf1
|
UTSW |
4 |
123365355 |
splice site |
probably null |
|
|
R0453:Macf1
|
UTSW |
4 |
123444944 |
missense |
probably benign |
0.35 |
|
R0481:Macf1
|
UTSW |
4 |
123484022 |
splice site |
probably null |
|
|
R0502:Macf1
|
UTSW |
4 |
123469815 |
missense |
probably damaging |
1.00 |
|
R0503:Macf1
|
UTSW |
4 |
123469815 |
missense |
probably damaging |
1.00 |
|
R0519:Macf1
|
UTSW |
4 |
123471320 |
missense |
probably benign |
0.03 |
|
R0543:Macf1
|
UTSW |
4 |
123376378 |
missense |
probably damaging |
1.00 |
|
R0621:Macf1
|
UTSW |
4 |
123380534 |
missense |
probably damaging |
1.00 |
|
R0631:Macf1
|
UTSW |
4 |
123455524 |
nonsense |
probably null |
|
|
R0720:Macf1
|
UTSW |
4 |
123432925 |
missense |
probably damaging |
1.00 |
|
R0730:Macf1
|
UTSW |
4 |
123382530 |
splice site |
probably benign |
|
|
R0755:Macf1
|
UTSW |
4 |
123369926 |
missense |
probably damaging |
0.99 |
|
R0836:Macf1
|
UTSW |
4 |
123494882 |
critical splice donor site |
probably null |
|
|
R0847:Macf1
|
UTSW |
4 |
123399366 |
missense |
probably benign |
0.03 |
|
R0850:Macf1
|
UTSW |
4 |
123474402 |
missense |
probably benign |
|
|
R0924:Macf1
|
UTSW |
4 |
123385478 |
missense |
probably damaging |
1.00 |
|
R0973:Macf1
|
UTSW |
4 |
123476000 |
missense |
possibly damaging |
0.76 |
|
R1025:Macf1
|
UTSW |
4 |
123473816 |
missense |
probably damaging |
1.00 |
|
R1076:Macf1
|
UTSW |
4 |
123385598 |
missense |
probably damaging |
1.00 |
|
R1253:Macf1
|
UTSW |
4 |
123457967 |
missense |
probably damaging |
1.00 |
|
R1301:Macf1
|
UTSW |
4 |
123486658 |
splice site |
probably benign |
|
|
R1337:Macf1
|
UTSW |
4 |
123476275 |
missense |
probably benign |
0.34 |
|
R1344:Macf1
|
UTSW |
4 |
123433453 |
missense |
probably damaging |
0.99 |
|
R1404:Macf1
|
UTSW |
4 |
123376516 |
missense |
probably damaging |
1.00 |
|
R1404:Macf1
|
UTSW |
4 |
123376516 |
missense |
probably damaging |
1.00 |
|
R1443:Macf1
|
UTSW |
4 |
123511007 |
missense |
probably damaging |
1.00 |
|
R1452:Macf1
|
UTSW |
4 |
123493998 |
missense |
probably benign |
|
|
R1465:Macf1
|
UTSW |
4 |
123493154 |
missense |
probably damaging |
0.98 |
|
R1465:Macf1
|
UTSW |
4 |
123493154 |
missense |
probably damaging |
0.98 |
|
R1483:Macf1
|
UTSW |
4 |
123510977 |
missense |
probably damaging |
1.00 |
|
R1509:Macf1
|
UTSW |
4 |
123684009 |
missense |
possibly damaging |
0.92 |
|
R1510:Macf1
|
UTSW |
4 |
123434762 |
missense |
probably null |
1.00 |
|
R1515:Macf1
|
UTSW |
4 |
123378480 |
missense |
probably damaging |
1.00 |
|
R1524:Macf1
|
UTSW |
4 |
123432530 |
missense |
possibly damaging |
0.75 |
|
R1528:Macf1
|
UTSW |
4 |
123476014 |
missense |
probably benign |
0.30 |
|
R1535:Macf1
|
UTSW |
4 |
123440693 |
missense |
probably benign |
0.05 |
|
R1556:Macf1
|
UTSW |
4 |
123455020 |
missense |
probably damaging |
1.00 |
|
R1564:Macf1
|
UTSW |
4 |
123459357 |
missense |
probably benign |
0.00 |
|
R1586:Macf1
|
UTSW |
4 |
123509846 |
missense |
probably benign |
0.20 |
|
R1626:Macf1
|
UTSW |
4 |
123471534 |
missense |
probably benign |
|
|
R1629:Macf1
|
UTSW |
4 |
123508415 |
nonsense |
probably null |
|
|
R1649:Macf1
|
UTSW |
4 |
123484053 |
missense |
probably damaging |
0.96 |
|
R1650:Macf1
|
UTSW |
4 |
123456600 |
nonsense |
probably null |
|
|
R1706:Macf1
|
UTSW |
4 |
123370584 |
critical splice donor site |
probably null |
|
|
R1713:Macf1
|
UTSW |
4 |
123378694 |
missense |
probably damaging |
1.00 |
|
R1716:Macf1
|
UTSW |
4 |
123401403 |
missense |
probably damaging |
1.00 |
|
R1744:Macf1
|
UTSW |
4 |
123475853 |
missense |
probably damaging |
1.00 |
|
R1752:Macf1
|
UTSW |
4 |
123483672 |
missense |
possibly damaging |
0.92 |
|
R1771:Macf1
|
UTSW |
4 |
123512108 |
missense |
probably damaging |
1.00 |
|
R1812:Macf1
|
UTSW |
4 |
123432024 |
missense |
probably damaging |
1.00 |
|
R1818:Macf1
|
UTSW |
4 |
123376417 |
missense |
probably damaging |
1.00 |
|
R1853:Macf1
|
UTSW |
4 |
123512720 |
splice site |
probably null |
|
|
R1856:Macf1
|
UTSW |
4 |
123369848 |
missense |
probably damaging |
1.00 |
|
R1869:Macf1
|
UTSW |
4 |
123351128 |
missense |
probably damaging |
1.00 |
|
R1880:Macf1
|
UTSW |
4 |
123438591 |
missense |
probably damaging |
1.00 |
|
R1888:Macf1
|
UTSW |
4 |
123455042 |
missense |
possibly damaging |
0.91 |
|
R1888:Macf1
|
UTSW |
4 |
123474712 |
missense |
probably benign |
|
|
R1888:Macf1
|
UTSW |
4 |
123455042 |
missense |
possibly damaging |
0.91 |
|
R1888:Macf1
|
UTSW |
4 |
123474712 |
missense |
probably benign |
|
|
R1902:Macf1
|
UTSW |
4 |
123471165 |
missense |
probably benign |
0.01 |
|
R1907:Macf1
|
UTSW |
4 |
123372399 |
missense |
probably damaging |
1.00 |
|
R1908:Macf1
|
UTSW |
4 |
123457841 |
missense |
possibly damaging |
0.67 |
|
R1932:Macf1
|
UTSW |
4 |
123452037 |
missense |
probably damaging |
1.00 |
|
R1944:Macf1
|
UTSW |
4 |
123370666 |
missense |
probably damaging |
1.00 |
|
R1945:Macf1
|
UTSW |
4 |
123490660 |
nonsense |
probably null |
|
|
R1975:Macf1
|
UTSW |
4 |
123489212 |
missense |
probably damaging |
1.00 |
|
R1989:Macf1
|
UTSW |
4 |
123497726 |
critical splice donor site |
probably null |
|
|
R1991:Macf1
|
UTSW |
4 |
123456695 |
missense |
probably damaging |
1.00 |
|
R1992:Macf1
|
UTSW |
4 |
123456695 |
missense |
probably damaging |
1.00 |
|
R2013:Macf1
|
UTSW |
4 |
123684014 |
missense |
probably damaging |
1.00 |
|
R2021:Macf1
|
UTSW |
4 |
123472730 |
missense |
probably damaging |
1.00 |
|
R2022:Macf1
|
UTSW |
4 |
123472730 |
missense |
probably damaging |
1.00 |
|
R2023:Macf1
|
UTSW |
4 |
123472730 |
missense |
probably damaging |
1.00 |
|
R2024:Macf1
|
UTSW |
4 |
123371918 |
missense |
probably damaging |
1.00 |
|
R2025:Macf1
|
UTSW |
4 |
123371918 |
missense |
probably damaging |
1.00 |
|
R2027:Macf1
|
UTSW |
4 |
123371918 |
missense |
probably damaging |
1.00 |
|
R2049:Macf1
|
UTSW |
4 |
123355102 |
missense |
probably damaging |
1.00 |
|
R2060:Macf1
|
UTSW |
4 |
123499919 |
splice site |
probably null |
|
|
R2092:Macf1
|
UTSW |
4 |
123383178 |
missense |
probably damaging |
1.00 |
|
R2100:Macf1
|
UTSW |
4 |
123397906 |
nonsense |
probably null |
|
|
R2128:Macf1
|
UTSW |
4 |
123492774 |
missense |
probably benign |
0.11 |
|
R2129:Macf1
|
UTSW |
4 |
123368815 |
splice site |
probably benign |
|
|
R2140:Macf1
|
UTSW |
4 |
123355102 |
missense |
probably damaging |
1.00 |
|
R2142:Macf1
|
UTSW |
4 |
123355102 |
missense |
probably damaging |
1.00 |
|
R2182:Macf1
|
UTSW |
4 |
123492671 |
missense |
probably damaging |
0.98 |
|
R2185:Macf1
|
UTSW |
4 |
123475556 |
missense |
probably damaging |
0.99 |
|
R2190:Macf1
|
UTSW |
4 |
123459212 |
missense |
probably benign |
0.11 |
|
R2320:Macf1
|
UTSW |
4 |
123439495 |
missense |
probably benign |
0.02 |
|
R2382:Macf1
|
UTSW |
4 |
123374832 |
missense |
probably damaging |
1.00 |
|
R2429:Macf1
|
UTSW |
4 |
123432584 |
missense |
probably damaging |
0.99 |
|
R2432:Macf1
|
UTSW |
4 |
123683996 |
missense |
probably damaging |
1.00 |
|
R2484:Macf1
|
UTSW |
4 |
123473672 |
missense |
probably damaging |
1.00 |
|
R2842:Macf1
|
UTSW |
4 |
123376417 |
missense |
probably damaging |
1.00 |
|
R2912:Macf1
|
UTSW |
4 |
123475911 |
missense |
probably damaging |
1.00 |
|
R2913:Macf1
|
UTSW |
4 |
123475911 |
missense |
probably damaging |
1.00 |
|
R2914:Macf1
|
UTSW |
4 |
123475911 |
missense |
probably damaging |
1.00 |
|
R2938:Macf1
|
UTSW |
4 |
123432902 |
missense |
probably damaging |
0.99 |
|
R3082:Macf1
|
UTSW |
4 |
123361443 |
splice site |
probably null |
|
|
R3086:Macf1
|
UTSW |
4 |
123435108 |
missense |
probably benign |
0.00 |
|
R3408:Macf1
|
UTSW |
4 |
123381781 |
missense |
probably damaging |
1.00 |
|
R3499:Macf1
|
UTSW |
4 |
123527305 |
nonsense |
probably null |
|
|
R3696:Macf1
|
UTSW |
4 |
123456362 |
missense |
probably damaging |
1.00 |
|
R3716:Macf1
|
UTSW |
4 |
123473502 |
missense |
probably benign |
0.01 |
|
R3727:Macf1
|
UTSW |
4 |
123459311 |
missense |
probably damaging |
1.00 |
|
R3770:Macf1
|
UTSW |
4 |
123374767 |
missense |
probably damaging |
1.00 |
|
R3813:Macf1
|
UTSW |
4 |
123374767 |
missense |
probably damaging |
1.00 |
|
R3825:Macf1
|
UTSW |
4 |
123444951 |
missense |
probably benign |
0.11 |
|
R3893:Macf1
|
UTSW |
4 |
123486406 |
missense |
probably damaging |
1.00 |
|
R3896:Macf1
|
UTSW |
4 |
123471194 |
missense |
possibly damaging |
0.55 |
|
R3947:Macf1
|
UTSW |
4 |
123380420 |
missense |
probably damaging |
1.00 |
|
R4031:Macf1
|
UTSW |
4 |
123381312 |
missense |
probably damaging |
1.00 |
|
R4052:Macf1
|
UTSW |
4 |
123472017 |
missense |
probably benign |
0.00 |
|
R4077:Macf1
|
UTSW |
4 |
123472091 |
missense |
probably benign |
0.07 |
|
R4078:Macf1
|
UTSW |
4 |
123472091 |
missense |
probably benign |
0.07 |
|
R4084:Macf1
|
UTSW |
4 |
123450072 |
missense |
probably damaging |
0.98 |
|
R4094:Macf1
|
UTSW |
4 |
123459269 |
missense |
probably benign |
0.00 |
|
R4154:Macf1
|
UTSW |
4 |
123471813 |
missense |
probably damaging |
1.00 |
|
R4190:Macf1
|
UTSW |
4 |
123473042 |
missense |
possibly damaging |
0.95 |
|
R4191:Macf1
|
UTSW |
4 |
123473042 |
missense |
possibly damaging |
0.95 |
|
R4192:Macf1
|
UTSW |
4 |
123473042 |
missense |
possibly damaging |
0.95 |
|
R4232:Macf1
|
UTSW |
4 |
123432392 |
missense |
probably damaging |
1.00 |
|
R4299:Macf1
|
UTSW |
4 |
123399406 |
missense |
probably damaging |
1.00 |
|
R4326:Macf1
|
UTSW |
4 |
123382212 |
missense |
probably damaging |
1.00 |
|
R4327:Macf1
|
UTSW |
4 |
123382212 |
missense |
probably damaging |
1.00 |
|
R4355:Macf1
|
UTSW |
4 |
123475091 |
missense |
possibly damaging |
0.79 |
|
R4380:Macf1
|
UTSW |
4 |
123354492 |
intron |
probably benign |
|
|
R4422:Macf1
|
UTSW |
4 |
123466046 |
missense |
probably damaging |
0.96 |
|
R4436:Macf1
|
UTSW |
4 |
123527342 |
missense |
probably benign |
0.03 |
|
R4472:Macf1
|
UTSW |
4 |
123395989 |
missense |
probably damaging |
1.00 |
|
R4515:Macf1
|
UTSW |
4 |
123493988 |
missense |
probably damaging |
1.00 |
|
R4549:Macf1
|
UTSW |
4 |
123473693 |
missense |
possibly damaging |
0.75 |
|
R4621:Macf1
|
UTSW |
4 |
123372348 |
critical splice donor site |
probably null |
|
|
R4622:Macf1
|
UTSW |
4 |
123372348 |
critical splice donor site |
probably null |
|
|
R4623:Macf1
|
UTSW |
4 |
123372348 |
critical splice donor site |
probably null |
|
|
R4630:Macf1
|
UTSW |
4 |
123473639 |
missense |
possibly damaging |
0.84 |
|
R4647:Macf1
|
UTSW |
4 |
123473627 |
missense |
probably benign |
0.01 |
|
R4650:Macf1
|
UTSW |
4 |
123473619 |
missense |
probably benign |
0.00 |
|
R4674:Macf1
|
UTSW |
4 |
123472397 |
missense |
probably benign |
0.22 |
|
R4751:Macf1
|
UTSW |
4 |
123471650 |
missense |
probably benign |
0.01 |
|
R4762:Macf1
|
UTSW |
4 |
123455444 |
missense |
probably benign |
0.00 |
|
R4776:Macf1
|
UTSW |
4 |
123476015 |
missense |
probably benign |
0.00 |
|
R4777:Macf1
|
UTSW |
4 |
123376502 |
missense |
probably damaging |
1.00 |
|
R4860:Macf1
|
UTSW |
4 |
123486750 |
missense |
probably damaging |
1.00 |
|
R4860:Macf1
|
UTSW |
4 |
123486750 |
missense |
probably damaging |
1.00 |
|
R4865:Macf1
|
UTSW |
4 |
123433303 |
missense |
probably damaging |
1.00 |
|
R4867:Macf1
|
UTSW |
4 |
123472200 |
missense |
probably damaging |
0.97 |
|
R4884:Macf1
|
UTSW |
4 |
123455009 |
missense |
probably benign |
0.02 |
|
R4890:Macf1
|
UTSW |
4 |
123448238 |
missense |
probably damaging |
1.00 |
|
R4913:Macf1
|
UTSW |
4 |
123499889 |
missense |
probably damaging |
1.00 |
|
R4925:Macf1
|
UTSW |
4 |
123526652 |
missense |
probably benign |
|
|
R4948:Macf1
|
UTSW |
4 |
123497755 |
missense |
probably damaging |
1.00 |
|
R4958:Macf1
|
UTSW |
4 |
123475364 |
missense |
probably damaging |
0.99 |
|
R4986:Macf1
|
UTSW |
4 |
123391121 |
missense |
probably damaging |
1.00 |
|
R4999:Macf1
|
UTSW |
4 |
123494909 |
missense |
probably benign |
0.14 |
|
R5004:Macf1
|
UTSW |
4 |
123385475 |
missense |
probably damaging |
1.00 |
|
R5017:Macf1
|
UTSW |
4 |
123452113 |
missense |
probably damaging |
1.00 |
|
R5018:Macf1
|
UTSW |
4 |
123385599 |
missense |
probably damaging |
1.00 |
|
R5026:Macf1
|
UTSW |
4 |
123439494 |
missense |
possibly damaging |
0.95 |
|
R5037:Macf1
|
UTSW |
4 |
123455519 |
missense |
probably damaging |
0.97 |
|
R5039:Macf1
|
UTSW |
4 |
123511220 |
missense |
probably damaging |
1.00 |
|
R5041:Macf1
|
UTSW |
4 |
123397046 |
splice site |
probably null |
|
|
R5100:Macf1
|
UTSW |
4 |
123474468 |
missense |
probably benign |
0.11 |
|
R5110:Macf1
|
UTSW |
4 |
123368008 |
missense |
probably damaging |
0.99 |
|
R5122:Macf1
|
UTSW |
4 |
123452292 |
missense |
probably damaging |
1.00 |
|
R5187:Macf1
|
UTSW |
4 |
123472089 |
missense |
probably benign |
0.00 |
|
R5191:Macf1
|
UTSW |
4 |
123472962 |
missense |
probably benign |
0.00 |
|
R5201:Macf1
|
UTSW |
4 |
123475945 |
nonsense |
probably null |
|
|
R5236:Macf1
|
UTSW |
4 |
123397821 |
missense |
probably damaging |
1.00 |
|
R5248:Macf1
|
UTSW |
4 |
123401774 |
nonsense |
probably null |
|
|
R5251:Macf1
|
UTSW |
4 |
123449967 |
missense |
probably benign |
0.20 |
|
R5319:Macf1
|
UTSW |
4 |
123473436 |
missense |
probably damaging |
1.00 |
|
R5326:Macf1
|
UTSW |
4 |
123350991 |
frame shift |
probably null |
|
|
R5327:Macf1
|
UTSW |
4 |
123350991 |
frame shift |
probably null |
|
|
R5328:Macf1
|
UTSW |
4 |
123350991 |
frame shift |
probably null |
|
|
R5350:Macf1
|
UTSW |
4 |
123527458 |
start codon destroyed |
probably null |
0.02 |
|
R5390:Macf1
|
UTSW |
4 |
123471753 |
missense |
probably damaging |
0.98 |
|
R5419:Macf1
|
UTSW |
4 |
123397124 |
missense |
possibly damaging |
0.70 |
|
R5428:Macf1
|
UTSW |
4 |
123384868 |
missense |
probably damaging |
1.00 |
|
R5432:Macf1
|
UTSW |
4 |
123459336 |
nonsense |
probably null |
|
|
R5466:Macf1
|
UTSW |
4 |
123452865 |
missense |
possibly damaging |
0.75 |
|
R5472:Macf1
|
UTSW |
4 |
123450061 |
missense |
probably benign |
|
|
R5564:Macf1
|
UTSW |
4 |
123526745 |
missense |
possibly damaging |
0.92 |
|
R5566:Macf1
|
UTSW |
4 |
123435164 |
missense |
probably damaging |
0.98 |
|
R5597:Macf1
|
UTSW |
4 |
123539777 |
intron |
probably benign |
|
|
R5669:Macf1
|
UTSW |
4 |
123476225 |
missense |
probably damaging |
1.00 |
|
R5682:Macf1
|
UTSW |
4 |
123434759 |
missense |
probably damaging |
1.00 |
|
R5701:Macf1
|
UTSW |
4 |
123503225 |
missense |
probably damaging |
1.00 |
|
R5715:Macf1
|
UTSW |
4 |
123684014 |
missense |
probably damaging |
1.00 |
|
R5760:Macf1
|
UTSW |
4 |
123513884 |
missense |
probably damaging |
1.00 |
|
R5806:Macf1
|
UTSW |
4 |
123371887 |
missense |
probably damaging |
1.00 |
|
R5838:Macf1
|
UTSW |
4 |
123452154 |
missense |
possibly damaging |
0.95 |
|
R5839:Macf1
|
UTSW |
4 |
123381324 |
missense |
probably damaging |
1.00 |
|
R5850:Macf1
|
UTSW |
4 |
123507306 |
missense |
probably damaging |
1.00 |
|
R5875:Macf1
|
UTSW |
4 |
123432314 |
missense |
possibly damaging |
0.78 |
|
R5912:Macf1
|
UTSW |
4 |
123397158 |
missense |
probably damaging |
1.00 |
|
R5913:Macf1
|
UTSW |
4 |
123476039 |
missense |
probably damaging |
1.00 |
|
R5921:Macf1
|
UTSW |
4 |
123526711 |
missense |
probably benign |
|
|
R5940:Macf1
|
UTSW |
4 |
123432881 |
missense |
probably damaging |
1.00 |
|
R5950:Macf1
|
UTSW |
4 |
123439436 |
splice site |
probably null |
|
|
R6005:Macf1
|
UTSW |
4 |
123474275 |
missense |
possibly damaging |
0.82 |
|
R6029:Macf1
|
UTSW |
4 |
123507333 |
missense |
probably damaging |
1.00 |
|
R6041:Macf1
|
UTSW |
4 |
123513848 |
missense |
probably damaging |
1.00 |
|
R6057:Macf1
|
UTSW |
4 |
123510743 |
missense |
probably damaging |
0.98 |
|
R6156:Macf1
|
UTSW |
4 |
123472280 |
missense |
probably benign |
0.00 |
|
R6186:Macf1
|
UTSW |
4 |
123484175 |
missense |
probably damaging |
1.00 |
|
R6197:Macf1
|
UTSW |
4 |
123452292 |
missense |
probably damaging |
1.00 |
|
R6262:Macf1
|
UTSW |
4 |
123473190 |
missense |
possibly damaging |
0.79 |
|
R6296:Macf1
|
UTSW |
4 |
123432875 |
missense |
probably damaging |
1.00 |
|
R6340:Macf1
|
UTSW |
4 |
123448249 |
missense |
probably benign |
0.13 |
|
R6369:Macf1
|
UTSW |
4 |
123410562 |
missense |
possibly damaging |
0.90 |
|
R6414:Macf1
|
UTSW |
4 |
123493195 |
missense |
possibly damaging |
0.93 |
|
R6429:Macf1
|
UTSW |
4 |
123401594 |
splice site |
probably null |
|
|
R6501:Macf1
|
UTSW |
4 |
123469632 |
splice site |
probably null |
|
|
R6508:Macf1
|
UTSW |
4 |
123469742 |
missense |
probably damaging |
0.96 |
|
R6519:Macf1
|
UTSW |
4 |
123472325 |
missense |
probably benign |
0.13 |
|
R6535:Macf1
|
UTSW |
4 |
123471935 |
missense |
possibly damaging |
0.82 |
|
R6537:Macf1
|
UTSW |
4 |
123492725 |
missense |
probably damaging |
1.00 |
|
R6546:Macf1
|
UTSW |
4 |
123432281 |
missense |
probably benign |
0.14 |
|
R6583:Macf1
|
UTSW |
4 |
123470946 |
splice site |
probably null |
|
|
R6597:Macf1
|
UTSW |
4 |
123382692 |
missense |
probably damaging |
1.00 |
|
R6693:Macf1
|
UTSW |
4 |
123473808 |
missense |
possibly damaging |
0.82 |
|
R6696:Macf1
|
UTSW |
4 |
123509803 |
missense |
probably damaging |
1.00 |
|
R6704:Macf1
|
UTSW |
4 |
123410762 |
intron |
probably benign |
|
|
R6716:Macf1
|
UTSW |
4 |
123508438 |
missense |
probably damaging |
1.00 |
|
R6789:Macf1
|
UTSW |
4 |
123372438 |
missense |
probably damaging |
1.00 |
|
R6807:Macf1
|
UTSW |
4 |
123374415 |
missense |
probably damaging |
1.00 |
|
R6825:Macf1
|
UTSW |
4 |
123383222 |
splice site |
probably null |
|
|
R6881:Macf1
|
UTSW |
4 |
123432453 |
missense |
probably damaging |
1.00 |
|
R6894:Macf1
|
UTSW |
4 |
123483687 |
missense |
possibly damaging |
0.89 |
|
R6924:Macf1
|
UTSW |
4 |
123527352 |
missense |
possibly damaging |
0.53 |
|
R6962:Macf1
|
UTSW |
4 |
123440722 |
missense |
probably benign |
0.01 |
|
R6965:Macf1
|
UTSW |
4 |
123408745 |
missense |
probably benign |
0.38 |
|
R6969:Macf1
|
UTSW |
4 |
123457800 |
missense |
probably benign |
0.01 |
|
R7032:Macf1
|
UTSW |
4 |
123472308 |
missense |
probably benign |
0.00 |
|
R7055:Macf1
|
UTSW |
4 |
123409196 |
missense |
probably benign |
0.01 |
|
R7078:Macf1
|
UTSW |
4 |
123432143 |
missense |
probably damaging |
0.99 |
|
R7215:Macf1
|
UTSW |
4 |
123507304 |
missense |
probably damaging |
1.00 |
|
R7263:Macf1
|
UTSW |
4 |
123378150 |
missense |
probably damaging |
1.00 |
|
R7265:Macf1
|
UTSW |
4 |
123407877 |
missense |
probably benign |
0.00 |
|
R7278:Macf1
|
UTSW |
4 |
123440743 |
missense |
possibly damaging |
0.87 |
|
R7312:Macf1
|
UTSW |
4 |
123506337 |
missense |
probably damaging |
1.00 |
|
R7324:Macf1
|
UTSW |
4 |
123374425 |
missense |
probably benign |
0.09 |
|
R7334:Macf1
|
UTSW |
4 |
123399442 |
missense |
probably damaging |
1.00 |
|
R7342:Macf1
|
UTSW |
4 |
123382124 |
missense |
probably damaging |
1.00 |
|
R7409:Macf1
|
UTSW |
4 |
123504470 |
missense |
probably damaging |
1.00 |
|
R7436:Macf1
|
UTSW |
4 |
123456643 |
missense |
probably benign |
|
|
R7440:Macf1
|
UTSW |
4 |
123455446 |
nonsense |
probably null |
|
|
R7462:Macf1
|
UTSW |
4 |
123492763 |
missense |
probably damaging |
1.00 |
|
R7471:Macf1
|
UTSW |
4 |
123472289 |
missense |
probably benign |
0.00 |
|
R7472:Macf1
|
UTSW |
4 |
123433067 |
missense |
probably benign |
0.16 |
|
R7486:Macf1
|
UTSW |
4 |
123409581 |
missense |
probably benign |
0.00 |
|
R7492:Macf1
|
UTSW |
4 |
123475731 |
missense |
possibly damaging |
0.83 |
|
R7511:Macf1
|
UTSW |
4 |
123473300 |
missense |
possibly damaging |
0.72 |
|
R7528:Macf1
|
UTSW |
4 |
123432059 |
missense |
possibly damaging |
0.90 |
|
R7547:Macf1
|
UTSW |
4 |
123441617 |
missense |
probably damaging |
1.00 |
|
R7592:Macf1
|
UTSW |
4 |
123410893 |
intron |
probably benign |
|
|
R7723:Macf1
|
UTSW |
4 |
123432924 |
missense |
probably benign |
0.00 |
|
R7731:Macf1
|
UTSW |
4 |
123444879 |
missense |
probably benign |
0.19 |
|
R7739:Macf1
|
UTSW |
4 |
123385598 |
missense |
probably damaging |
1.00 |
|
R7740:Macf1
|
UTSW |
4 |
123684303 |
start gained |
probably benign |
|
|
R7798:Macf1
|
UTSW |
4 |
123378100 |
missense |
probably damaging |
1.00 |
|
R7799:Macf1
|
UTSW |
4 |
123527113 |
missense |
probably benign |
0.00 |
|
R7801:Macf1
|
UTSW |
4 |
123408271 |
missense |
probably damaging |
0.97 |
|
R7842:Macf1
|
UTSW |
4 |
123526909 |
missense |
probably benign |
0.12 |
|
R7849:Macf1
|
UTSW |
4 |
123407599 |
missense |
probably benign |
0.00 |
|
R7873:Macf1
|
UTSW |
4 |
123504551 |
critical splice acceptor site |
probably null |
|
|
R7933:Macf1
|
UTSW |
4 |
123409651 |
missense |
probably benign |
0.00 |
|
R7934:Macf1
|
UTSW |
4 |
123473934 |
missense |
possibly damaging |
0.89 |
|
R7947:Macf1
|
UTSW |
4 |
123401407 |
missense |
probably damaging |
0.98 |
|
R7988:Macf1
|
UTSW |
4 |
123506480 |
missense |
probably damaging |
1.00 |
|
R7992:Macf1
|
UTSW |
4 |
123395960 |
missense |
probably damaging |
1.00 |
|
R8013:Macf1
|
UTSW |
4 |
123526826 |
missense |
probably benign |
0.00 |
|
R8014:Macf1
|
UTSW |
4 |
123526826 |
missense |
probably benign |
0.00 |
|
R8029:Macf1
|
UTSW |
4 |
123444892 |
missense |
possibly damaging |
0.50 |
|
R8064:Macf1
|
UTSW |
4 |
123459374 |
missense |
possibly damaging |
0.91 |
|
R8085:Macf1
|
UTSW |
4 |
123410082 |
missense |
possibly damaging |
0.46 |
|
R8094:Macf1
|
UTSW |
4 |
123369867 |
missense |
probably damaging |
0.99 |
|
R8099:Macf1
|
UTSW |
4 |
123476129 |
missense |
probably benign |
0.22 |
|
R8147:Macf1
|
UTSW |
4 |
123491698 |
missense |
probably damaging |
1.00 |
|
R8151:Macf1
|
UTSW |
4 |
123397413 |
missense |
possibly damaging |
0.91 |
|
R8186:Macf1
|
UTSW |
4 |
123372426 |
missense |
probably damaging |
1.00 |
|
R8186:Macf1
|
UTSW |
4 |
123382130 |
missense |
possibly damaging |
0.89 |
|
R8192:Macf1
|
UTSW |
4 |
123440597 |
missense |
probably damaging |
1.00 |
|
R8196:Macf1
|
UTSW |
4 |
123382704 |
missense |
probably damaging |
1.00 |
|
R8260:Macf1
|
UTSW |
4 |
123472070 |
missense |
probably benign |
|
|
R8305:Macf1
|
UTSW |
4 |
123395621 |
intron |
probably benign |
|
|
R8333:Macf1
|
UTSW |
4 |
123385452 |
splice site |
probably null |
|
|
R8334:Macf1
|
UTSW |
4 |
123432108 |
missense |
possibly damaging |
0.82 |
|
R8344:Macf1
|
UTSW |
4 |
123384683 |
missense |
probably damaging |
1.00 |
|
R8344:Macf1
|
UTSW |
4 |
123526856 |
missense |
probably benign |
|
|
R8422:Macf1
|
UTSW |
4 |
123409486 |
missense |
possibly damaging |
0.46 |
|
R8459:Macf1
|
UTSW |
4 |
123480314 |
missense |
possibly damaging |
0.68 |
|
R8466:Macf1
|
UTSW |
4 |
123455444 |
missense |
probably benign |
0.00 |
|
R8472:Macf1
|
UTSW |
4 |
123453002 |
missense |
probably damaging |
1.00 |
|
R8556:Macf1
|
UTSW |
4 |
123488343 |
missense |
probably damaging |
1.00 |
|
R8679:Macf1
|
UTSW |
4 |
123512076 |
missense |
probably benign |
0.00 |
|
R8723:Macf1
|
UTSW |
4 |
123455117 |
nonsense |
probably null |
|
|
R8732:Macf1
|
UTSW |
4 |
123509770 |
critical splice donor site |
probably null |
|
|
R8747:Macf1
|
UTSW |
4 |
123355151 |
missense |
probably damaging |
1.00 |
|
R8748:Macf1
|
UTSW |
4 |
123474275 |
missense |
probably benign |
0.00 |
|
R8785:Macf1
|
UTSW |
4 |
123448260 |
critical splice acceptor site |
probably null |
|
|
R8826:Macf1
|
UTSW |
4 |
123382229 |
missense |
probably damaging |
1.00 |
|
R8828:Macf1
|
UTSW |
4 |
123408411 |
missense |
probably benign |
0.01 |
|
R8833:Macf1
|
UTSW |
4 |
123471341 |
missense |
probably benign |
|
|
R8889:Macf1
|
UTSW |
4 |
123355243 |
missense |
probably damaging |
1.00 |
|
R8892:Macf1
|
UTSW |
4 |
123355243 |
missense |
probably damaging |
1.00 |
|
R8893:Macf1
|
UTSW |
4 |
123410530 |
missense |
probably benign |
0.27 |
|
R8899:Macf1
|
UTSW |
4 |
123475059 |
missense |
probably benign |
0.00 |
|
R8956:Macf1
|
UTSW |
4 |
123474848 |
missense |
probably benign |
|
|
R9037:Macf1
|
UTSW |
4 |
123471725 |
missense |
probably benign |
0.03 |
|
R9086:Macf1
|
UTSW |
4 |
123484151 |
missense |
probably damaging |
1.00 |
|
R9111:Macf1
|
UTSW |
4 |
123513026 |
missense |
probably damaging |
1.00 |
|
R9126:Macf1
|
UTSW |
4 |
123382400 |
missense |
possibly damaging |
0.88 |
|
R9139:Macf1
|
UTSW |
4 |
123434771 |
missense |
probably damaging |
1.00 |
|
R9140:Macf1
|
UTSW |
4 |
123474062 |
missense |
possibly damaging |
0.92 |
|
R9149:Macf1
|
UTSW |
4 |
123471533 |
missense |
probably benign |
0.40 |
|
R9163:Macf1
|
UTSW |
4 |
123509893 |
missense |
probably damaging |
1.00 |
|
R9177:Macf1
|
UTSW |
4 |
123473789 |
missense |
probably damaging |
1.00 |
|
R9206:Macf1
|
UTSW |
4 |
123684132 |
missense |
unknown |
|
|
R9208:Macf1
|
UTSW |
4 |
123684132 |
missense |
unknown |
|
|
R9209:Macf1
|
UTSW |
4 |
123432434 |
missense |
probably damaging |
1.00 |
|
R9219:Macf1
|
UTSW |
4 |
123407761 |
missense |
possibly damaging |
0.81 |
|
R9224:Macf1
|
UTSW |
4 |
123432897 |
missense |
probably damaging |
1.00 |
|
R9241:Macf1
|
UTSW |
4 |
123378159 |
missense |
probably damaging |
1.00 |
|
R9268:Macf1
|
UTSW |
4 |
123473789 |
missense |
probably damaging |
1.00 |
|
R9276:Macf1
|
UTSW |
4 |
123434708 |
missense |
probably damaging |
1.00 |
|
R9296:Macf1
|
UTSW |
4 |
123506453 |
missense |
probably damaging |
0.99 |
|
R9369:Macf1
|
UTSW |
4 |
123455357 |
critical splice donor site |
probably null |
|
|
R9438:Macf1
|
UTSW |
4 |
123385573 |
missense |
probably benign |
0.01 |
|
R9443:Macf1
|
UTSW |
4 |
123471875 |
missense |
probably benign |
|
|
R9529:Macf1
|
UTSW |
4 |
123513887 |
missense |
probably damaging |
1.00 |
|
R9600:Macf1
|
UTSW |
4 |
123471209 |
missense |
possibly damaging |
0.76 |
|
R9613:Macf1
|
UTSW |
4 |
123526495 |
missense |
probably benign |
0.41 |
|
R9686:Macf1
|
UTSW |
4 |
123483698 |
missense |
possibly damaging |
0.64 |
|
R9689:Macf1
|
UTSW |
4 |
123471861 |
missense |
probably benign |
|
|
R9740:Macf1
|
UTSW |
4 |
123372384 |
missense |
probably damaging |
1.00 |
|
R9740:Macf1
|
UTSW |
4 |
123473060 |
missense |
probably damaging |
1.00 |
|
R9764:Macf1
|
UTSW |
4 |
123472343 |
missense |
probably benign |
0.02 |
|
R9779:Macf1
|
UTSW |
4 |
123454996 |
missense |
probably benign |
0.02 |
|
RF011:Macf1
|
UTSW |
4 |
123473855 |
missense |
probably damaging |
1.00 |
|
X0022:Macf1
|
UTSW |
4 |
123450042 |
missense |
probably damaging |
0.99 |
|
X0027:Macf1
|
UTSW |
4 |
123503269 |
missense |
probably damaging |
1.00 |
|
X0064:Macf1
|
UTSW |
4 |
123511874 |
missense |
probably damaging |
1.00 |
|
Z1177:Macf1
|
UTSW |
4 |
123471475 |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTACGAGTCCCTGAGTGAAGTTCC -3'
(R):5'- CTGGATAGACGAGTGCAAGTCCAAG -3'
Sequencing Primer
(F):5'- TGCAGCACTTCTTGCTGAG -3'
(R):5'- GATGTCTGAGCTACAGGTTACCC -3'
|
| Protein Function and Prediction |
Macf1 encodes ACF7, a member of the spectraplakin family of proteins that function in several processes including gastrulation, wound healing, skin blistering and neuronal degeneration (1;2). The spectraplakin protiens are cytoskeletal cross-linking proteins that bind both actin and microtubules (1). ACF7 has been shown to be essential in the developing nervous system to coordinate the organization of actin and microtubule networks during axonal growth (2). In addition, ACF7 has been shown to function in wound healing and epidermal migration by acting as an actin-regulated ATPase (3). ACF7 has been shown to function in the translocation and subsequent binding of the Axin complex to LRP6 at the cell membrane upon Wnt stimulation (4). Northern blot analysis detected ubiquitous MACF1 expression; highest expression was in the heart, skeletal muscle, prostate, intestine, colon, and gonads while lowest expression was in brain, spleen, thymus, liver, placenta, and lung (5). Another study detected high expression of MACF1 in heart, placenta, liver, kidney, and pancreas, moderate expression in brain and lung, and weak expression in skeletal muscle by RT-PCR (6). Immunofluoresense detected ACF7 in a filamentous network throughout the cytoplasm (5). Additional studies detected ACF7 binds along microtubules, but is concentrated at the distal ends (1).
Macf1tm1Liem/tm1Liem; MGI:3652899
involves: 129S6/SvEvTac * C57BL/6J
Homozygotes exhibit complete embryonic lethality at ~E7.5 and a failure to form a primitive streak (4).
Macf1tm2.1Liem/Macf1tm2.2Liem/Tg(Nes-cre)1Kin; MGI:4831019
involves: 129S6/SvEvTac * C57BL/6 * FVB/N * SJL
Mice heterozygous for a knock-out and floxed allele activated in neurons exhibit impaired cortical neuron migration, respiratory distress, and early postnatal lethality (7).
|
| Note |
1. Kodama, A., Karakesisoglou, I., Wong, E., Vaezi, A., and Fuchs, E. (2003) ACF7: An Essential Integrator of Microtubule Dynamics. Cell. 115, 343-354.
2. Sanchez-Soriano, N., Travis, M., Dajas-Bailador, F., Goncalves-Pimentel, C., Whitmarsh, A. J., and Prokop, A. (2009) Mouse ACF7 and Drosophila Short Stop Modulate Filopodia Formation and Microtubule Organisation during Neuronal Growth. J Cell Sci. 122, 2534-2542.
4. Chen, H. J., Lin, C. M., Lin, C. S., Perez-Olle, R., Leung, C. L., and Liem, R. K. (2006) The Role of Microtubule Actin Cross-Linking Factor 1 (MACF1) in the Wnt Signaling Pathway. Genes Dev. 20, 1933-1945.
5. Sun, Y., Zhang, J., Kraeft, S. K., Auclair, D., Chang, M. S., Liu, Y., Sutherland, R., Salgia, R., Griffin, J. D., Ferland, L. H., and Chen, L. B. (1999) Molecular Cloning and Characterization of Human Trabeculin-Alpha, a Giant Protein Defining a New Family of Actin-Binding Proteins. J Biol Chem. 274, 33522-33530.
6. Okuda, T., Matsuda, S., Nakatsugawa, S., Ichigotani, Y., Iwahashi, N., Takahashi, M., Ishigaki, T., and Hamaguchi, M. (1999) Molecular Cloning of Macrophin, a Human Homologue of Drosophila Kakapo with a Close Structural Similarity to Plectin and Dystrophin. Biochem Biophys Res Commun. 264, 568-574.
7. Goryunov, D., He, C. Z., Lin, C. S., Leung, C. L., and Liem, R. K. (2010) Nervous-Tissue-Specific Elimination of Microtubule-Actin Crosslinking Factor 1a Results in Multiple Developmental Defects in the Mouse Brain. Mol Cell Neurosci. 44, 1-14. |
| Posted On |
2013-04-12 |
| Science Writer |
Anne Murray |
Incidental Mutation