Incidental Mutation 'R3124:Fem1b'
ID |
264203 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fem1b
|
Ensembl Gene |
ENSMUSG00000032244 |
Gene Name |
fem 1 homolog b |
Synonyms |
|
MMRRC Submission |
040597-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
62699106-62718930 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62703836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 475
(I475V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034775]
|
AlphaFold |
Q9Z2G0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034775
AA Change: I475V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034775 Gene: ENSMUSG00000032244 AA Change: I475V
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 |
|
Meta Mutation Damage Score |
0.0588 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (40/40) |
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 |
Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGTGGAGGGCACTGTTCC -3'
(R):5'- CAGACATAGAGTGCGTTTTGAG -3'
Sequencing Primer
(F):5'- GGGCACTGTTCCCCTCATTG -3'
(R):5'- TGCAGTGTCTTGGAAATAGAGC -3'
|
Posted On |
2015-02-05 |