Incidental Mutation 'R5749:Fem1b'
| ID |
445926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fem1b
|
| Ensembl Gene |
ENSMUSG00000032244 |
| Gene Name |
fem 1 homolog b |
| Synonyms |
|
| MMRRC Submission |
043200-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5749 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
62699106-62718930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62704288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 324
(L324P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034775]
|
| AlphaFold |
Q9Z2G0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034775
AA Change: L324P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: L324P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
G |
A |
11: 54,214,881 (GRCm39) |
|
probably null |
Het |
| Ankrd12 |
T |
C |
17: 66,293,091 (GRCm39) |
S781G |
probably benign |
Het |
| Bicc1 |
A |
G |
10: 70,782,799 (GRCm39) |
S523P |
probably benign |
Het |
| Ccdc163 |
T |
A |
4: 116,571,309 (GRCm39) |
C44* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,873,156 (GRCm39) |
T400A |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,216,965 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,844 (GRCm39) |
I242T |
possibly damaging |
Het |
| Efnb2 |
A |
C |
8: 8,689,347 (GRCm39) |
C92G |
probably damaging |
Het |
| Fam90a1a |
T |
A |
8: 22,453,057 (GRCm39) |
S137R |
possibly damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fsd1 |
T |
A |
17: 56,302,849 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,045,983 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
A |
C |
1: 173,464,893 (GRCm39) |
I8L |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,266,889 (GRCm39) |
E182G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,703,743 (GRCm39) |
L87H |
probably damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,210 (GRCm39) |
I160T |
probably benign |
Het |
| Lbp |
T |
A |
2: 158,161,673 (GRCm39) |
V52D |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,347 (GRCm39) |
V318A |
possibly damaging |
Het |
| Myo16 |
C |
T |
8: 10,463,245 (GRCm39) |
S604L |
probably benign |
Het |
| Or10ag52 |
C |
T |
2: 87,043,287 (GRCm39) |
T17I |
probably benign |
Het |
| Or10g1 |
T |
A |
14: 52,647,961 (GRCm39) |
M123L |
probably damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,589 (GRCm39) |
V28A |
probably benign |
Het |
| Or6c38 |
A |
T |
10: 128,928,966 (GRCm39) |
N292K |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,525 (GRCm39) |
D346G |
probably damaging |
Het |
| Ppara |
A |
T |
15: 85,673,229 (GRCm39) |
D140V |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Prss36 |
T |
A |
7: 127,532,814 (GRCm39) |
I192F |
probably damaging |
Het |
| Psg25 |
T |
C |
7: 18,258,776 (GRCm39) |
E300G |
probably damaging |
Het |
| Pxylp1 |
A |
G |
9: 96,738,424 (GRCm39) |
F26L |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,073,101 (GRCm39) |
T796S |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,534,267 (GRCm39) |
H3508R |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,081,529 (GRCm39) |
D1282V |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,310 (GRCm39) |
E59G |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,401,177 (GRCm39) |
H1040Q |
probably benign |
Het |
| Usp10 |
G |
A |
8: 120,667,872 (GRCm39) |
E58K |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,232 (GRCm39) |
T512A |
probably benign |
Het |
| Vmn2r52 |
C |
T |
7: 9,892,959 (GRCm39) |
D727N |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,655,979 (GRCm39) |
K346* |
probably null |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,546 (GRCm39) |
F2I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,332,780 (GRCm39) |
S69P |
probably benign |
Het |
| Zftraf1 |
A |
C |
15: 76,542,844 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACTTGAGCAAACCGAAGCAG -3'
(R):5'- CCTCCTTTGCAAATGATCGTGAG -3'
Sequencing Primer
(F):5'- CAAACCGAAGCAGATCTTTGTG -3'
(R):5'- TCGTGAGAACTATGACATCATGAAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation