Incidental Mutation 'R7203:Mcf2l'
| ID |
560792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
045281-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7203 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13060456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 764
(D764G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173006]
[ENSMUST00000173099]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095456
AA Change: D794G
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: D794G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
75 |
221 |
1.77e-24 |
SMART |
|
SPEC
|
354 |
455 |
4.41e-15 |
SMART |
|
coiled coil region
|
507 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
594 |
N/A |
INTRINSIC |
|
RhoGEF
|
636 |
811 |
2.83e-63 |
SMART |
|
PH
|
831 |
948 |
8.13e-14 |
SMART |
|
low complexity region
|
966 |
978 |
N/A |
INTRINSIC |
|
SH3
|
1058 |
1115 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098927
AA Change: D768G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: D768G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
49 |
195 |
1.77e-24 |
SMART |
|
SPEC
|
328 |
429 |
4.41e-15 |
SMART |
|
coiled coil region
|
481 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
568 |
N/A |
INTRINSIC |
|
RhoGEF
|
610 |
785 |
2.83e-63 |
SMART |
|
PH
|
805 |
922 |
8.13e-14 |
SMART |
|
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110866
AA Change: D742G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: D742G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
|
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
|
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
|
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
|
PH
|
779 |
896 |
8.13e-14 |
SMART |
|
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
|
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110867
AA Change: D742G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: D742G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
|
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
|
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
|
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
|
PH
|
779 |
896 |
8.13e-14 |
SMART |
|
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
|
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110871
AA Change: D762G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: D762G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
SEC14
|
43 |
189 |
1.77e-24 |
SMART |
|
SPEC
|
322 |
423 |
4.41e-15 |
SMART |
|
coiled coil region
|
475 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
562 |
N/A |
INTRINSIC |
|
RhoGEF
|
604 |
779 |
2.83e-63 |
SMART |
|
PH
|
799 |
916 |
8.13e-14 |
SMART |
|
low complexity region
|
934 |
946 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110873
AA Change: D605G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: D605G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
165 |
266 |
4.41e-15 |
SMART |
|
coiled coil region
|
318 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
RhoGEF
|
447 |
622 |
2.83e-63 |
SMART |
|
PH
|
642 |
759 |
8.13e-14 |
SMART |
|
low complexity region
|
777 |
789 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110876
AA Change: D764G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: D764G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
|
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
|
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
|
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
|
PH
|
801 |
918 |
8.13e-14 |
SMART |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SH3
|
1084 |
1141 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110879
AA Change: D764G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: D764G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
|
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
|
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
|
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
|
PH
|
801 |
918 |
8.13e-14 |
SMART |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SH3
|
1028 |
1085 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123811
|
| SMART Domains |
Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
88 |
6.67e-1 |
SMART |
|
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
|
SH3
|
198 |
255 |
3.33e-4 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: D426G
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
5 |
88 |
8.25e-6 |
SMART |
|
coiled coil region
|
139 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
|
RhoGEF
|
269 |
444 |
2.83e-63 |
SMART |
|
PH
|
464 |
581 |
8.13e-14 |
SMART |
|
low complexity region
|
599 |
611 |
N/A |
INTRINSIC |
|
SH3
|
716 |
773 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134227
|
| SMART Domains |
Protein: ENSMUSP00000116731
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
1 |
81 |
1.5e-7 |
PFAM |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139776
|
| SMART Domains |
Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
99 |
156 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145067
AA Change: D701G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: D701G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
16 |
132 |
2.4e-12 |
PFAM |
|
SPEC
|
261 |
362 |
4.41e-15 |
SMART |
|
coiled coil region
|
414 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
501 |
N/A |
INTRINSIC |
|
RhoGEF
|
543 |
718 |
2.83e-63 |
SMART |
|
PH
|
738 |
855 |
8.13e-14 |
SMART |
|
low complexity region
|
873 |
885 |
N/A |
INTRINSIC |
|
SH3
|
1021 |
1078 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145892
|
| SMART Domains |
Protein: ENSMUSP00000114758
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
2 |
23 |
1e-6 |
BLAST |
|
PDB:1KZG|C
|
2 |
40 |
1e-19 |
PDB |
|
SCOP:d1kz7a2
|
2 |
40 |
6e-7 |
SMART |
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173006
AA Change: D673G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: D673G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
1 |
104 |
1.3e-12 |
PFAM |
|
SPEC
|
233 |
334 |
4.41e-15 |
SMART |
|
coiled coil region
|
386 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
RhoGEF
|
515 |
690 |
2.83e-63 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173099
AA Change: D760G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: D760G
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
41 |
187 |
1.77e-24 |
SMART |
|
SPEC
|
320 |
421 |
4.41e-15 |
SMART |
|
coiled coil region
|
473 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
560 |
N/A |
INTRINSIC |
|
RhoGEF
|
602 |
777 |
2.83e-63 |
SMART |
|
PH
|
797 |
914 |
8.13e-14 |
SMART |
|
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1025 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (108/108) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,930,317 (GRCm39) |
V184A |
probably benign |
Het |
| Aars2 |
A |
G |
17: 45,827,497 (GRCm39) |
Y513C |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,738,033 (GRCm39) |
C136Y |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,547,782 (GRCm39) |
K414R |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,155,118 (GRCm39) |
Y83C |
possibly damaging |
Het |
| Atp10a |
G |
T |
7: 58,436,221 (GRCm39) |
R337L |
probably benign |
Het |
| Atp6v1g3 |
A |
T |
1: 138,215,538 (GRCm39) |
Q66L |
probably damaging |
Het |
| Atp7b |
A |
T |
8: 22,487,351 (GRCm39) |
N1321K |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,209,959 (GRCm39) |
M437K |
probably damaging |
Het |
| Bap1 |
C |
A |
14: 30,976,126 (GRCm39) |
P147Q |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,414,403 (GRCm39) |
T372I |
possibly damaging |
Het |
| Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
| Btrc |
A |
G |
19: 45,501,967 (GRCm39) |
|
probably null |
Het |
| C130050O18Rik |
A |
C |
5: 139,400,129 (GRCm39) |
I61L |
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,425,258 (GRCm39) |
S278P |
probably damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,631,815 (GRCm39) |
D512G |
possibly damaging |
Het |
| Chat |
T |
C |
14: 32,141,014 (GRCm39) |
D461G |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,668,635 (GRCm39) |
V456D |
probably benign |
Het |
| Cib1 |
T |
C |
7: 79,882,120 (GRCm39) |
T20A |
possibly damaging |
Het |
| Cubn |
T |
G |
2: 13,355,814 (GRCm39) |
H1806P |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,844,149 (GRCm39) |
V56E |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,803,756 (GRCm39) |
N1032D |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,188,723 (GRCm39) |
E1756V |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,996,339 (GRCm39) |
T2666A |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,009,257 (GRCm39) |
I2135N |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,150,528 (GRCm39) |
E745V |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,158,927 (GRCm39) |
N1695I |
probably damaging |
Het |
| Esf1 |
C |
T |
2: 140,006,139 (GRCm39) |
R336Q |
possibly damaging |
Het |
| Fam161a |
A |
G |
11: 22,971,664 (GRCm39) |
|
probably null |
Het |
| Fam89a |
T |
C |
8: 125,478,418 (GRCm39) |
E44G |
possibly damaging |
Het |
| Fndc3b |
A |
T |
3: 27,510,634 (GRCm39) |
D829E |
probably benign |
Het |
| Fxr1 |
C |
T |
3: 34,100,689 (GRCm39) |
T125I |
possibly damaging |
Het |
| Gfer |
T |
C |
17: 24,914,836 (GRCm39) |
D69G |
probably damaging |
Het |
| Gpatch2l |
T |
A |
12: 86,335,711 (GRCm39) |
S471T |
probably benign |
Het |
| Grm7 |
T |
G |
6: 111,335,530 (GRCm39) |
I647S |
possibly damaging |
Het |
| Gsn |
A |
G |
2: 35,188,807 (GRCm39) |
I447V |
probably benign |
Het |
| H2al2c |
C |
T |
Y: 2,599,234 (GRCm39) |
L46F |
possibly damaging |
Het |
| Hao2 |
A |
C |
3: 98,784,598 (GRCm39) |
|
probably null |
Het |
| Ifitm10 |
T |
C |
7: 141,882,305 (GRCm39) |
E155G |
probably benign |
Het |
| Igkv8-16 |
C |
A |
6: 70,363,794 (GRCm39) |
W76L |
probably benign |
Het |
| Igsf21 |
A |
T |
4: 139,834,648 (GRCm39) |
F75I |
possibly damaging |
Het |
| Ints14 |
T |
A |
9: 64,871,701 (GRCm39) |
M13K |
probably damaging |
Het |
| Ipmk |
A |
T |
10: 71,199,298 (GRCm39) |
D53V |
possibly damaging |
Het |
| Iqcn |
A |
T |
8: 71,169,597 (GRCm39) |
E1229V |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,234,906 (GRCm39) |
F451L |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,272,560 (GRCm39) |
F284S |
probably damaging |
Het |
| Kctd5 |
T |
C |
17: 24,292,209 (GRCm39) |
D65G |
probably benign |
Het |
| Klrc1 |
A |
T |
6: 129,654,184 (GRCm39) |
S148T |
probably benign |
Het |
| Kmt5b |
A |
G |
19: 3,864,147 (GRCm39) |
K404E |
probably damaging |
Het |
| Krt9 |
A |
C |
11: 100,081,617 (GRCm39) |
M304R |
probably damaging |
Het |
| Krtap5-1 |
A |
T |
7: 141,850,299 (GRCm39) |
S143T |
unknown |
Het |
| Kyat3 |
A |
G |
3: 142,426,162 (GRCm39) |
N68D |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,571,365 (GRCm39) |
D427G |
probably damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,278 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,501,892 (GRCm39) |
D1737G |
probably damaging |
Het |
| Lpo |
C |
A |
11: 87,700,077 (GRCm39) |
L521F |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,920,573 (GRCm39) |
S1477P |
probably damaging |
Het |
| Lrrtm1 |
C |
A |
6: 77,220,584 (GRCm39) |
L14M |
probably damaging |
Het |
| Ly75 |
G |
A |
2: 60,154,196 (GRCm39) |
R1084* |
probably null |
Het |
| Mmut |
A |
T |
17: 41,249,564 (GRCm39) |
M180L |
probably benign |
Het |
| Mrgprd |
A |
T |
7: 144,876,086 (GRCm39) |
D319V |
probably benign |
Het |
| Myom3 |
T |
C |
4: 135,522,490 (GRCm39) |
L897P |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,161,291 (GRCm39) |
M247K |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,320,533 (GRCm39) |
D868G |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,999 (GRCm39) |
N140S |
probably damaging |
Het |
| Nsmce4a |
T |
C |
7: 130,141,602 (GRCm39) |
K196E |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,836,080 (GRCm39) |
K532R |
probably benign |
Het |
| Or6k4 |
T |
A |
1: 173,964,680 (GRCm39) |
Y123* |
probably null |
Het |
| Or8d6 |
T |
A |
9: 39,853,805 (GRCm39) |
V83E |
probably benign |
Het |
| Or8g29-ps1 |
A |
T |
9: 39,200,589 (GRCm39) |
I199N |
unknown |
Het |
| Pbxip1 |
A |
T |
3: 89,354,735 (GRCm39) |
D418V |
possibly damaging |
Het |
| Pde2a |
C |
A |
7: 101,159,151 (GRCm39) |
R761S |
possibly damaging |
Het |
| Phf10 |
A |
T |
17: 15,166,575 (GRCm39) |
C432S |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,522 (GRCm39) |
D1271G |
probably damaging |
Het |
| Plin1 |
A |
T |
7: 79,373,192 (GRCm39) |
L259Q |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Pou6f2 |
T |
A |
13: 18,414,379 (GRCm39) |
Q132L |
unknown |
Het |
| Ppa2 |
A |
T |
3: 133,036,199 (GRCm39) |
N118Y |
possibly damaging |
Het |
| Prickle2 |
T |
C |
6: 92,387,959 (GRCm39) |
E537G |
possibly damaging |
Het |
| Prl3d1 |
A |
G |
13: 27,282,684 (GRCm39) |
I141V |
possibly damaging |
Het |
| Prl8a1 |
A |
T |
13: 27,758,172 (GRCm39) |
V179D |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,984,489 (GRCm39) |
F1669L |
probably benign |
Het |
| Prrg4 |
T |
A |
2: 104,669,787 (GRCm39) |
E110V |
possibly damaging |
Het |
| Rfx5 |
C |
A |
3: 94,866,187 (GRCm39) |
H495Q |
unknown |
Het |
| Rgl2 |
C |
T |
17: 34,152,403 (GRCm39) |
R367W |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,328,491 (GRCm39) |
Y433C |
probably damaging |
Het |
| Rpl35rt |
A |
T |
1: 156,193,657 (GRCm39) |
I4F |
probably damaging |
Het |
| Rtn4rl1 |
C |
T |
11: 75,156,576 (GRCm39) |
S336F |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,578,663 (GRCm39) |
D1446G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,031,931 (GRCm39) |
T1002K |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,036,422 (GRCm39) |
S409P |
probably benign |
Het |
| Sowahc |
A |
G |
10: 59,058,100 (GRCm39) |
T79A |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,129,248 (GRCm39) |
T1254I |
probably benign |
Het |
| Stk35 |
T |
A |
2: 129,643,513 (GRCm39) |
C166S |
probably benign |
Het |
| Tarbp2 |
A |
G |
15: 102,430,922 (GRCm39) |
H225R |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,188,648 (GRCm39) |
K530* |
probably null |
Het |
| Terf2ip |
A |
G |
8: 112,744,618 (GRCm39) |
I312V |
probably benign |
Het |
| Tgfb1 |
T |
C |
7: 25,391,964 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
C |
17: 14,891,720 (GRCm39) |
D939G |
probably damaging |
Het |
| Ube4b |
A |
T |
4: 149,483,067 (GRCm39) |
I67K |
probably benign |
Het |
| Ubn1 |
G |
T |
16: 4,895,080 (GRCm39) |
V709F |
possibly damaging |
Het |
| Ugt2b5 |
T |
C |
5: 87,276,258 (GRCm39) |
K339E |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,882 (GRCm39) |
S266P |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,038 (GRCm39) |
I722T |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,661,577 (GRCm39) |
K441R |
probably benign |
Het |
| Wapl |
C |
A |
14: 34,458,648 (GRCm39) |
D903E |
probably benign |
Het |
| Wee1 |
T |
A |
7: 109,734,001 (GRCm39) |
V442D |
probably benign |
Het |
| Zan |
T |
C |
5: 137,432,358 (GRCm39) |
N2313S |
unknown |
Het |
|
| Other mutations in Mcf2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Mcf2l
|
APN |
8 |
13,050,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00426:Mcf2l
|
APN |
8 |
13,034,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01391:Mcf2l
|
APN |
8 |
13,064,010 (GRCm39) |
splice site |
probably null |
|
|
IGL01795:Mcf2l
|
APN |
8 |
13,050,749 (GRCm39) |
splice site |
probably null |
|
|
IGL02314:Mcf2l
|
APN |
8 |
13,051,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02716:Mcf2l
|
APN |
8 |
13,047,277 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02985:Mcf2l
|
APN |
8 |
13,013,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Mcf2l
|
APN |
8 |
13,050,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03308:Mcf2l
|
APN |
8 |
13,059,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Mcf2l
|
APN |
8 |
13,051,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0022:Mcf2l
|
UTSW |
8 |
13,068,897 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Mcf2l
|
UTSW |
8 |
13,056,766 (GRCm39) |
unclassified |
probably benign |
|
|
R0067:Mcf2l
|
UTSW |
8 |
13,063,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0110:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Mcf2l
|
UTSW |
8 |
13,046,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0591:Mcf2l
|
UTSW |
8 |
13,068,751 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0801:Mcf2l
|
UTSW |
8 |
13,064,020 (GRCm39) |
intron |
probably benign |
|
|
R0962:Mcf2l
|
UTSW |
8 |
13,051,964 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1084:Mcf2l
|
UTSW |
8 |
13,052,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1794:Mcf2l
|
UTSW |
8 |
12,965,982 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2111:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3785:Mcf2l
|
UTSW |
8 |
12,930,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4777:Mcf2l
|
UTSW |
8 |
13,068,051 (GRCm39) |
splice site |
probably null |
|
|
R4858:Mcf2l
|
UTSW |
8 |
13,063,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Mcf2l
|
UTSW |
8 |
13,034,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Mcf2l
|
UTSW |
8 |
13,061,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Mcf2l
|
UTSW |
8 |
12,965,959 (GRCm39) |
intron |
probably benign |
|
|
R5158:Mcf2l
|
UTSW |
8 |
13,059,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Mcf2l
|
UTSW |
8 |
12,976,646 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5569:Mcf2l
|
UTSW |
8 |
13,055,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Mcf2l
|
UTSW |
8 |
13,060,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5668:Mcf2l
|
UTSW |
8 |
13,063,812 (GRCm39) |
nonsense |
probably null |
|
|
R5753:Mcf2l
|
UTSW |
8 |
13,049,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Mcf2l
|
UTSW |
8 |
13,043,937 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5946:Mcf2l
|
UTSW |
8 |
13,063,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Mcf2l
|
UTSW |
8 |
13,051,823 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6174:Mcf2l
|
UTSW |
8 |
13,063,849 (GRCm39) |
nonsense |
probably null |
|
|
R6212:Mcf2l
|
UTSW |
8 |
13,067,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Mcf2l
|
UTSW |
8 |
13,068,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6383:Mcf2l
|
UTSW |
8 |
12,929,912 (GRCm39) |
start gained |
probably benign |
|
|
R6850:Mcf2l
|
UTSW |
8 |
13,059,476 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6908:Mcf2l
|
UTSW |
8 |
13,068,919 (GRCm39) |
missense |
probably benign |
|
|
R7101:Mcf2l
|
UTSW |
8 |
13,063,579 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7163:Mcf2l
|
UTSW |
8 |
12,965,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7414:Mcf2l
|
UTSW |
8 |
13,069,022 (GRCm39) |
makesense |
probably null |
|
|
R7553:Mcf2l
|
UTSW |
8 |
13,047,268 (GRCm39) |
missense |
probably benign |
|
|
R7556:Mcf2l
|
UTSW |
8 |
13,023,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7688:Mcf2l
|
UTSW |
8 |
12,998,130 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7776:Mcf2l
|
UTSW |
8 |
12,930,127 (GRCm39) |
missense |
probably benign |
|
|
R7947:Mcf2l
|
UTSW |
8 |
13,053,529 (GRCm39) |
splice site |
probably null |
|
|
R8077:Mcf2l
|
UTSW |
8 |
13,048,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8083:Mcf2l
|
UTSW |
8 |
13,057,875 (GRCm39) |
splice site |
probably null |
|
|
R8133:Mcf2l
|
UTSW |
8 |
13,061,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Mcf2l
|
UTSW |
8 |
13,013,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8453:Mcf2l
|
UTSW |
8 |
13,034,956 (GRCm39) |
splice site |
probably null |
|
|
R8520:Mcf2l
|
UTSW |
8 |
12,930,089 (GRCm39) |
missense |
probably benign |
|
|
R8865:Mcf2l
|
UTSW |
8 |
12,930,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8895:Mcf2l
|
UTSW |
8 |
13,034,330 (GRCm39) |
intron |
probably benign |
|
|
R9081:Mcf2l
|
UTSW |
8 |
13,068,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9143:Mcf2l
|
UTSW |
8 |
13,062,883 (GRCm39) |
splice site |
probably benign |
|
|
R9219:Mcf2l
|
UTSW |
8 |
13,061,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9229:Mcf2l
|
UTSW |
8 |
13,063,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9335:Mcf2l
|
UTSW |
8 |
13,050,812 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9351:Mcf2l
|
UTSW |
8 |
13,050,757 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9406:Mcf2l
|
UTSW |
8 |
13,059,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Mcf2l
|
UTSW |
8 |
13,023,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9618:Mcf2l
|
UTSW |
8 |
13,034,320 (GRCm39) |
intron |
probably benign |
|
|
X0052:Mcf2l
|
UTSW |
8 |
13,068,713 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Mcf2l
|
UTSW |
8 |
13,059,654 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAAGCAGCAGGAATCTG -3'
(R):5'- CAGGAAGCTTGGAAGTATTGC -3'
Sequencing Primer
(F):5'- TCTGTCTGGGGGCCACAC -3'
(R):5'- GGAAGTATTGCTAGGATTTCCCTATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation