Incidental Mutation 'IGL01306:Fem1b'
ID 73457
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) question?
Stock # IGL01306
Quality Score
Status
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

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null 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
Bltp1 T C 3: 37,059,162 (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 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
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign 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
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
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V 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
Other mutations in Fem1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Fem1b APN 9 62,704,201 (GRCm39) missense probably damaging 1.00
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
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 2013-10-07