Incidental Mutation 'ANU23:Fem1b'
ID |
262641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fem1b
|
Ensembl Gene |
ENSMUSG00000032244 |
Gene Name |
fem 1 homolog b |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
ANU23
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
62699106-62718930 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62704810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 150
(A150V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034775]
|
AlphaFold |
Q9Z2G0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034775
AA Change: A150V
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034775 Gene: ENSMUSG00000032244 AA Change: A150V
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 |
- 1x: 98.7%
- 3x: 98.2%
- 10x: 96.6%
- 20x: 93.8%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
Akap12 |
G |
T |
10: 4,303,273 (GRCm39) |
A28S |
probably benign |
Het |
Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
Cacna1g |
G |
A |
11: 94,357,054 (GRCm39) |
|
probably benign |
Het |
Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
Cpne6 |
G |
C |
14: 55,749,459 (GRCm39) |
M6I |
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
Edar |
A |
T |
10: 58,464,460 (GRCm39) |
C60S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch3 |
CAGGAGGAGGAGGAGGAG |
CAGGAGGAGGAGGAG |
4: 133,305,613 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
Idh3a |
T |
A |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
Itpk1 |
T |
C |
12: 102,572,362 (GRCm39) |
E117G |
probably damaging |
Het |
Kif12 |
G |
T |
4: 63,084,121 (GRCm39) |
P627Q |
probably damaging |
Het |
Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
Mcm7 |
C |
T |
5: 138,168,653 (GRCm39) |
V13I |
probably benign |
Het |
Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
Siglecf |
T |
A |
7: 43,001,377 (GRCm39) |
L115* |
probably null |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
Spata1 |
A |
T |
3: 146,193,154 (GRCm39) |
Y112* |
probably null |
Het |
Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
Vmn1r159 |
A |
G |
7: 22,542,588 (GRCm39) |
V148A |
probably damaging |
Het |
Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
Het |
Zfp334 |
T |
C |
2: 165,223,017 (GRCm39) |
H342R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCATTCACCACTATTGCAGCTC -3'
(R):5'- ATGTCATTGACGGTGCCACTGCTC -3'
Sequencing Primer
(F):5'- ATTGCAGCTCTCCATTTTATCAG -3'
(R):5'- GGTGCCACTGCTCTTTGG -3'
|
Posted On |
2015-02-04 |