Incidental Mutation 'R2326:Fem1b'
ID 244921
Institutional Source Beutler Lab
Gene Symbol Fem1b
Ensembl Gene ENSMUSG00000032244
Gene Name fem 1 homolog b
Synonyms
MMRRC Submission 040317-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2326 (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 62704285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 325 (H325R)
Ref Sequence ENSEMBL: ENSMUSP00000034775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034775]
AlphaFold Q9Z2G0
Predicted Effect probably damaging
Transcript: ENSMUST00000034775
AA Change: H325R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034775
Gene: ENSMUSG00000032244
AA Change: H325R

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
Meta Mutation Damage Score 0.1492 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (31/31)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap3 G C 3: 88,276,819 (GRCm39) probably benign Het
Cdh3 A G 8: 107,237,940 (GRCm39) T45A probably benign Het
Cdyl2 A G 8: 117,350,537 (GRCm39) V198A probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyp7a1 A T 4: 6,268,396 (GRCm39) I443K probably benign Het
Dazap1 T A 10: 80,120,067 (GRCm39) M234K possibly damaging Het
Dnmt1 A T 9: 20,835,442 (GRCm39) probably benign Het
Dusp8 A G 7: 141,643,800 (GRCm39) Y38H probably damaging Het
Ewsr1 A G 11: 5,041,857 (GRCm39) probably null Het
Flrt3 C A 2: 140,503,311 (GRCm39) V106F possibly damaging Het
Foxp2 T A 6: 15,409,938 (GRCm39) S513T possibly damaging Het
Gm5600 G T 7: 113,307,041 (GRCm39) noncoding transcript Het
Haspin A G 11: 73,026,911 (GRCm39) I726T probably benign Het
Lama4 T A 10: 38,918,563 (GRCm39) probably null Het
Lrrc7 A T 3: 157,876,298 (GRCm39) H597Q probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Plcb4 C T 2: 135,781,893 (GRCm39) T238M probably damaging Het
Plekhd1 A G 12: 80,768,873 (GRCm39) probably null Het
Prph C G 15: 98,953,163 (GRCm39) probably benign Het
Rassf2 C T 2: 131,842,352 (GRCm39) probably null Het
Saal1 A G 7: 46,342,235 (GRCm39) F403L probably benign Het
Serpina3a C T 12: 104,082,758 (GRCm39) T177I probably benign Het
Slc23a2 C T 2: 131,936,115 (GRCm39) E52K possibly damaging Het
Stab2 T A 10: 86,790,338 (GRCm39) probably null Het
Syne3 T A 12: 104,935,493 (GRCm39) E95V probably damaging Het
Vmn1r58 G T 7: 5,413,939 (GRCm39) T97N probably damaging Het
Vmn2r61 T G 7: 41,916,287 (GRCm39) L300W probably damaging Het
Vps13a T C 19: 16,720,421 (GRCm39) E388G possibly damaging Het
Other mutations in Fem1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTTGAGCAAACCGAAGCAGATC -3'
(R):5'- GCCTCCTTTGCAAATGATCG -3'

Sequencing Primer
(F):5'- CAAACCGAAGCAGATCTTTGTG -3'
(R):5'- TCGTGAGAACTATGACATCATGAAG -3'
Posted On 2014-10-30