Incidental Mutation 'R3123:Fem1b'
| ID |
264157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fem1b
|
| Ensembl Gene |
ENSMUSG00000032244 |
| Gene Name |
fem 1 homolog b |
| Synonyms |
|
| MMRRC Submission |
040596-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3123 (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: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (46/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,234,576 (GRCm39) |
I646V |
possibly damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Csn1s2b |
T |
C |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
| Ctsa |
T |
A |
2: 164,677,152 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
G |
A |
4: 96,389,450 (GRCm39) |
|
probably benign |
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 |
| Dhx9 |
T |
C |
1: 153,341,452 (GRCm39) |
K599E |
possibly damaging |
Het |
| Duox2 |
A |
G |
2: 122,111,554 (GRCm39) |
|
probably benign |
Het |
| F2rl3 |
T |
C |
8: 73,489,840 (GRCm39) |
S356P |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Gpr75 |
T |
A |
11: 30,841,709 (GRCm39) |
S205T |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm39) |
V201A |
possibly damaging |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,368 (GRCm39) |
F712S |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Or10ag53 |
A |
T |
2: 87,083,135 (GRCm39) |
T285S |
possibly damaging |
Het |
| Or2l13 |
A |
G |
16: 19,305,765 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
T |
A |
11: 8,923,021 (GRCm39) |
D82V |
unknown |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,350,198 (GRCm39) |
E396K |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,436,425 (GRCm39) |
S46P |
probably benign |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,693,153 (GRCm39) |
|
probably null |
Het |
| Rad18 |
A |
T |
6: 112,658,307 (GRCm39) |
D199E |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,460,230 (GRCm39) |
E764G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Taf15 |
G |
A |
11: 83,395,154 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tgfbr2 |
G |
A |
9: 115,939,137 (GRCm39) |
T230M |
possibly damaging |
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 |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,790,133 (GRCm39) |
|
probably benign |
Het |
| Vmn2r109 |
C |
T |
17: 20,761,248 (GRCm39) |
C703Y |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
| Zfp777 |
A |
G |
6: 48,006,050 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATAATGTGGAGGGCACTG -3'
(R):5'- ACATAGAGTGCGTTTTGAGATGC -3'
Sequencing Primer
(F):5'- ATAATGTGGAGGGCACTGTTCCC -3'
(R):5'- TGCAGTGTCTTGGAAATAGAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation