Incidental Mutation 'IGL02059:Fem1b'
ID |
185332 |
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 # |
IGL02059
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
62699106-62718930 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 62703446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 605
(V605I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034775]
|
AlphaFold |
Q9Z2G0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034775
AA Change: V605I
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000034775 Gene: ENSMUSG00000032244 AA Change: V605I
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
C |
11: 110,051,220 (GRCm39) |
|
probably benign |
Het |
Anks1 |
A |
G |
17: 28,227,020 (GRCm39) |
M558V |
possibly damaging |
Het |
Arhgef1 |
T |
A |
7: 24,611,977 (GRCm39) |
|
probably benign |
Het |
Atad3a |
G |
A |
4: 155,839,207 (GRCm39) |
|
probably benign |
Het |
Bhmt2 |
A |
G |
13: 93,803,171 (GRCm39) |
Y121H |
probably benign |
Het |
Cbx5 |
A |
G |
15: 103,108,192 (GRCm39) |
V151A |
probably damaging |
Het |
Copa |
T |
A |
1: 171,927,320 (GRCm39) |
I231N |
probably damaging |
Het |
Csf3r |
T |
A |
4: 125,925,920 (GRCm39) |
C168* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,963,784 (GRCm39) |
I1723N |
probably damaging |
Het |
Epb42 |
G |
A |
2: 120,855,188 (GRCm39) |
P466S |
probably damaging |
Het |
Gclc |
T |
G |
9: 77,695,098 (GRCm39) |
S403A |
probably damaging |
Het |
Gpr135 |
A |
T |
12: 72,116,858 (GRCm39) |
V303D |
possibly damaging |
Het |
Gprin3 |
C |
A |
6: 59,332,310 (GRCm39) |
|
probably benign |
Het |
Grik1 |
T |
A |
16: 87,852,937 (GRCm39) |
Q82L |
possibly damaging |
Het |
Hacl1 |
T |
C |
14: 31,354,891 (GRCm39) |
N118D |
probably benign |
Het |
Hdac9 |
A |
G |
12: 34,481,967 (GRCm39) |
V146A |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,160,621 (GRCm39) |
F763L |
probably benign |
Het |
Impg2 |
C |
T |
16: 56,080,335 (GRCm39) |
S713L |
probably damaging |
Het |
Ints7 |
T |
A |
1: 191,347,872 (GRCm39) |
M748K |
probably benign |
Het |
Kalrn |
A |
G |
16: 34,072,711 (GRCm39) |
S724P |
possibly damaging |
Het |
Kyat1 |
T |
C |
2: 30,075,565 (GRCm39) |
Q359R |
probably benign |
Het |
Mtmr4 |
A |
G |
11: 87,491,950 (GRCm39) |
N206S |
possibly damaging |
Het |
Nos3 |
T |
C |
5: 24,573,996 (GRCm39) |
I227T |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,310 (GRCm39) |
I215V |
probably benign |
Het |
Pde1a |
A |
T |
2: 79,727,421 (GRCm39) |
H169Q |
possibly damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,799,781 (GRCm39) |
D665E |
probably damaging |
Het |
Prickle4 |
G |
T |
17: 48,001,174 (GRCm39) |
L131M |
probably damaging |
Het |
Prl6a1 |
T |
A |
13: 27,499,348 (GRCm39) |
Y39N |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,374,531 (GRCm39) |
V350A |
possibly damaging |
Het |
Srsf7 |
T |
A |
17: 80,510,121 (GRCm39) |
S209C |
probably null |
Het |
Syde2 |
C |
T |
3: 145,707,927 (GRCm39) |
A622V |
possibly damaging |
Het |
Ugt1a6a |
T |
A |
1: 88,066,403 (GRCm39) |
S70T |
possibly damaging |
Het |
Vmn2r39 |
T |
C |
7: 9,026,643 (GRCm39) |
I453V |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,978,862 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
G |
T |
18: 5,766,892 (GRCm39) |
V468F |
probably damaging |
Het |
Zfp148 |
T |
A |
16: 33,316,933 (GRCm39) |
V493D |
probably damaging |
Het |
|
Other mutations in Fem1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00811:Fem1b
|
APN |
9 |
62,704,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01306:Fem1b
|
APN |
9 |
62,704,810 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
2014-05-07 |