Incidental Mutation 'R3947:Macf1'
| ID |
307744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macf1
|
| Ensembl Gene |
ENSMUSG00000028649 |
| Gene Name |
microtubule-actin crosslinking factor 1 |
| Synonyms |
trabeculin alpha, Acf7, Aclp7 |
| MMRRC Submission |
040927-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001199136.1, NM_001199137.1; MGI:108559
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
123349633-123684360 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123380420 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 6388
(R6388G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082108]
[ENSMUST00000084301]
[ENSMUST00000097897]
[ENSMUST00000106213]
[ENSMUST00000106220]
[ENSMUST00000106224]
[ENSMUST00000134458]
[ENSMUST00000140596]
[ENSMUST00000151346]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082108
AA Change: R4363G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080755
Gene: ENSMUSG00000028649
AA Change: R4363G
| 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 damaging
Transcript: ENSMUST00000084301
AA Change: R6386G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081324
Gene: ENSMUSG00000028649
AA Change: R6386G
| 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 damaging
Transcript: ENSMUST00000097897
AA Change: R6390G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095507
Gene: ENSMUSG00000028649
AA Change: R6390G
| 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 damaging
Transcript: ENSMUST00000106213
AA Change: R4934G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101819
Gene: ENSMUSG00000028649
AA Change: R4934G
| 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 damaging
Transcript: ENSMUST00000106220
AA Change: R4513G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101827
Gene: ENSMUSG00000028649
AA Change: R4513G
| 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 damaging
Transcript: ENSMUST00000106224
AA Change: R6388G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101831
Gene: ENSMUSG00000028649
AA Change: R6388G
| 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 |
probably damaging
Transcript: ENSMUST00000134458
AA Change: R3474G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119885
Gene: ENSMUSG00000028649
AA Change: R3474G
| 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 |
probably benign
Transcript: ENSMUST00000140596
|
| SMART Domains |
Protein: ENSMUSP00000117433
Gene: ENSMUSG00000028649
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
37 |
138 |
9.99e-14 |
SMART |
|
SPEC
|
148 |
254 |
8.41e-2 |
SMART |
|
SPEC
|
261 |
363 |
6.59e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151346
AA Change: R4378G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114568
Gene: ENSMUSG00000028649
AA Change: R4378G
| 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 |
0.7566 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
A |
14: 54,679,333 |
Q133L |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 56,917,754 |
T1561I |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,728,665 |
|
probably null |
Het |
| C87436 |
T |
A |
6: 86,446,186 |
H247Q |
probably damaging |
Het |
| Cfap43 |
G |
T |
19: 47,765,979 |
H969N |
probably benign |
Het |
| Chst15 |
T |
A |
7: 132,247,875 |
N446Y |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,715,332 |
I1446N |
probably damaging |
Het |
| Disc1 |
A |
G |
8: 125,088,135 |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,885,305 |
I408T |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,544,579 |
A481D |
possibly damaging |
Het |
| Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 119,160,662 |
|
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,292,417 |
T129M |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,074,503 |
Q263K |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,387,824 |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,170,373 |
M213L |
probably benign |
Het |
| Mtnr1a |
T |
C |
8: 45,087,520 |
Y173H |
probably damaging |
Het |
| Myo5b |
C |
T |
18: 74,695,403 |
R709W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,378,106 |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,131,646 |
R758G |
possibly damaging |
Het |
| Olfr123 |
A |
T |
17: 37,796,115 |
I224L |
probably benign |
Het |
| Pex11g |
G |
A |
8: 3,465,787 |
T82I |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,961,452 |
I842V |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,578,037 |
|
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,813,337 |
I92T |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,675,873 |
R3443P |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,398,256 |
D88G |
probably damaging |
Het |
| Suclg2 |
G |
T |
6: 95,579,238 |
|
probably null |
Het |
| Tdrd3 |
A |
T |
14: 87,506,599 |
D655V |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,520,003 |
D896N |
unknown |
Het |
| Tmem168 |
C |
A |
6: 13,583,052 |
R610L |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,376,146 |
|
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,378,990 |
M312T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,870,036 |
E2546G |
probably damaging |
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 |
|
R0134:Macf1
|
UTSW |
4 |
123432843 |
missense |
possibly damaging |
0.78 |
|
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 |
|
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'- CTCCAGCAAAACTTTGTAAGTAGG -3'
(R):5'- GGACCTTTCCAGACTGTACTAGTG -3'
Sequencing Primer
(F):5'- CAGCAAAACTTTGTAAGTAGGAACAC -3'
(R):5'- CCAGACTGTACTAGTGAAATATGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation