Incidental Mutation 'IGL00811:Fem1b'
ID |
10758 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fem1b
|
Ensembl Gene |
ENSMUSG00000032244 |
Gene Name |
fem 1 homolog b |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00811
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
62699106-62718930 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62704201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 353
(V353D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034775]
|
AlphaFold |
Q9Z2G0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034775
AA Change: V353D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034775 Gene: ENSMUSG00000032244 AA Change: V353D
Domain | Start | End | E-Value | Type |
ANK
|
45 |
74 |
6.81e-3 |
SMART |
ANK
|
87 |
116 |
6.65e-6 |
SMART |
ANK
|
120 |
149 |
8.39e-3 |
SMART |
ANK
|
153 |
182 |
8.91e-7 |
SMART |
ANK
|
186 |
215 |
4.13e-2 |
SMART |
ANK
|
218 |
246 |
6.71e-2 |
SMART |
ANK
|
483 |
527 |
1.72e1 |
SMART |
ANK
|
531 |
570 |
6.05e2 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013] PHENOTYPE: Homozygous targeted mutants display abnormal glucose tolerance due to defective glucose-stimulated insulin secretion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agps |
T |
C |
2: 75,756,316 (GRCm39) |
F649L |
probably benign |
Het |
Agrn |
A |
T |
4: 156,253,231 (GRCm39) |
D1752E |
possibly damaging |
Het |
Det1 |
A |
G |
7: 78,489,807 (GRCm39) |
V406A |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,560,672 (GRCm39) |
V955A |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,926,354 (GRCm39) |
|
probably benign |
Het |
Epha7 |
T |
A |
4: 28,961,285 (GRCm39) |
|
probably benign |
Het |
Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
Fbxl5 |
A |
G |
5: 43,915,567 (GRCm39) |
L614P |
probably damaging |
Het |
Fgf22 |
C |
T |
10: 79,592,724 (GRCm39) |
P140S |
probably damaging |
Het |
Ifi47 |
T |
C |
11: 48,986,244 (GRCm39) |
F4L |
probably benign |
Het |
Kmt2c |
A |
C |
5: 25,579,531 (GRCm39) |
S588R |
possibly damaging |
Het |
Nmrk1 |
T |
A |
19: 18,622,511 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
C |
T |
7: 45,732,732 (GRCm39) |
A1165V |
possibly damaging |
Het |
Osmr |
G |
A |
15: 6,845,147 (GRCm39) |
T873I |
probably benign |
Het |
Pclo |
A |
G |
5: 14,730,024 (GRCm39) |
|
probably benign |
Het |
Rims2 |
T |
A |
15: 39,155,544 (GRCm39) |
M115K |
probably damaging |
Het |
Rora |
C |
A |
9: 69,278,572 (GRCm39) |
T299K |
probably benign |
Het |
Sema6d |
C |
A |
2: 124,500,389 (GRCm39) |
P386Q |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
Sox18 |
T |
C |
2: 181,312,213 (GRCm39) |
E306G |
probably benign |
Het |
Sptlc1 |
C |
A |
13: 53,521,414 (GRCm39) |
A121S |
probably damaging |
Het |
Ssh2 |
C |
T |
11: 77,332,752 (GRCm39) |
A411V |
probably damaging |
Het |
Trim13 |
A |
G |
14: 61,842,306 (GRCm39) |
|
probably null |
Het |
Vps13c |
T |
A |
9: 67,855,463 (GRCm39) |
N2509K |
probably damaging |
Het |
|
Other mutations in Fem1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01306:Fem1b
|
APN |
9 |
62,704,810 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02059:Fem1b
|
APN |
9 |
62,703,446 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02292:Fem1b
|
APN |
9 |
62,703,977 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03390:Fem1b
|
APN |
9 |
62,704,246 (GRCm39) |
missense |
probably benign |
0.01 |
physeter
|
UTSW |
9 |
62,704,916 (GRCm39) |
missense |
probably damaging |
0.99 |
ANU23:Fem1b
|
UTSW |
9 |
62,704,810 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0054:Fem1b
|
UTSW |
9 |
62,704,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Fem1b
|
UTSW |
9 |
62,704,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0733:Fem1b
|
UTSW |
9 |
62,704,125 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1661:Fem1b
|
UTSW |
9 |
62,704,556 (GRCm39) |
missense |
probably damaging |
0.96 |
R1697:Fem1b
|
UTSW |
9 |
62,704,456 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2228:Fem1b
|
UTSW |
9 |
62,704,020 (GRCm39) |
nonsense |
probably null |
|
R2326:Fem1b
|
UTSW |
9 |
62,704,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R3123:Fem1b
|
UTSW |
9 |
62,703,836 (GRCm39) |
missense |
probably benign |
0.00 |
R3124:Fem1b
|
UTSW |
9 |
62,703,836 (GRCm39) |
missense |
probably benign |
0.00 |
R3125:Fem1b
|
UTSW |
9 |
62,703,836 (GRCm39) |
missense |
probably benign |
0.00 |
R4849:Fem1b
|
UTSW |
9 |
62,704,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R5749:Fem1b
|
UTSW |
9 |
62,704,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R6338:Fem1b
|
UTSW |
9 |
62,704,293 (GRCm39) |
missense |
probably benign |
0.08 |
R6727:Fem1b
|
UTSW |
9 |
62,704,015 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7036:Fem1b
|
UTSW |
9 |
62,704,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Fem1b
|
UTSW |
9 |
62,703,404 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Fem1b
|
UTSW |
9 |
62,718,449 (GRCm39) |
missense |
probably damaging |
0.98 |
R7877:Fem1b
|
UTSW |
9 |
62,703,844 (GRCm39) |
missense |
probably benign |
0.13 |
R8079:Fem1b
|
UTSW |
9 |
62,703,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Fem1b
|
UTSW |
9 |
62,703,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Fem1b
|
UTSW |
9 |
62,704,432 (GRCm39) |
nonsense |
probably null |
|
R8924:Fem1b
|
UTSW |
9 |
62,704,916 (GRCm39) |
missense |
probably damaging |
0.99 |
R9334:Fem1b
|
UTSW |
9 |
62,703,604 (GRCm39) |
nonsense |
probably null |
|
R9592:Fem1b
|
UTSW |
9 |
62,704,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |