Incidental Mutation 'IGL02028:Figla'
ID 184265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Figla
Ensembl Gene ENSMUSG00000030001
Gene Name folliculogenesis specific basic helix-loop-helix
Synonyms bHLHc8, FIG alpha
Accession Numbers
Essential gene? Possibly essential (E-score: 0.589) question?
Stock # IGL02028
Quality Score
Status
Chromosome 6
Chromosomal Location 85993476-85997978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85994345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 40 (L40P)
Ref Sequence ENSEMBL: ENSMUSP00000032070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032070]
AlphaFold O55208
Predicted Effect probably damaging
Transcript: ENSMUST00000032070
AA Change: L40P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032070
Gene: ENSMUSG00000030001
AA Change: L40P

DomainStartEndE-ValueType
HLH 65 117 5.01e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201361
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 a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]
PHENOTYPE: Inactivation of this locus results in female sterility owing to an absence of primordial follicles and oocyte depletion. Mutant males are fertile and exhibit no apparent defects of the reproductive system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,473,442 (GRCm39) Y53C probably damaging Het
Acacb T A 5: 114,304,076 (GRCm39) D166E probably damaging Het
Akap8l T C 17: 32,557,495 (GRCm39) probably null Het
Arl6ip5 A G 6: 97,206,611 (GRCm39) Y97C probably damaging Het
Atad5 T A 11: 80,024,936 (GRCm39) S1772R probably benign Het
Ccdc106 A G 7: 5,062,645 (GRCm39) Q155R probably damaging Het
Ccdc33 T C 9: 57,983,861 (GRCm39) N446S probably benign Het
Cdh2 T C 18: 16,783,477 (GRCm39) D84G probably benign Het
Cntn6 A G 6: 104,836,387 (GRCm39) K918E probably damaging Het
Dock6 T C 9: 21,750,122 (GRCm39) D521G probably damaging Het
Dync2i1 C A 12: 116,219,681 (GRCm39) R87L probably benign Het
Etv6 C T 6: 134,225,696 (GRCm39) A309V probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Gabra4 T A 5: 71,790,939 (GRCm39) Q301L probably damaging Het
Glt1d1 G A 5: 127,783,984 (GRCm39) V313M possibly damaging Het
Gm28778 T A 1: 53,357,120 (GRCm39) I94K possibly damaging Het
Gm4847 T C 1: 166,469,765 (GRCm39) K103E probably benign Het
Gne A G 4: 44,066,852 (GRCm39) S23P probably damaging Het
Hipk2 A G 6: 38,795,691 (GRCm39) C186R possibly damaging Het
Lrp1b C T 2: 41,401,464 (GRCm39) V283I probably damaging Het
Mcm10 A T 2: 5,013,511 (GRCm39) D40E possibly damaging Het
Morc2b T A 17: 33,356,387 (GRCm39) I462F possibly damaging Het
Myh1 T A 11: 67,101,441 (GRCm39) I711N probably damaging Het
Oit3 A G 10: 59,274,477 (GRCm39) F108L probably damaging Het
Or4f4b T C 2: 111,313,816 (GRCm39) F14L probably benign Het
Or8b49 T A 9: 38,505,715 (GRCm39) L66* probably null Het
Polr1g T C 7: 19,091,003 (GRCm39) K368R probably damaging Het
Rbm19 A G 5: 120,258,301 (GRCm39) D172G probably damaging Het
Ribc2 A G 15: 85,027,536 (GRCm39) D339G possibly damaging Het
Rras2 C A 7: 113,659,597 (GRCm39) V56L probably benign Het
Scn2a A G 2: 65,594,002 (GRCm39) E1617G probably damaging Het
Slc13a1 T A 6: 24,118,030 (GRCm39) M236L probably benign Het
Snrnp27 C T 6: 86,659,955 (GRCm39) R13H unknown Het
Srgap2 T C 1: 131,224,173 (GRCm39) K92E probably damaging Het
Suco T C 1: 161,684,428 (GRCm39) K231E possibly damaging Het
Tll2 C A 19: 41,087,088 (GRCm39) E588* probably null Het
Tmem215 A T 4: 40,473,940 (GRCm39) I6L possibly damaging Het
Tnc A C 4: 63,884,909 (GRCm39) probably benign Het
Tob1 G A 11: 94,105,052 (GRCm39) G196D probably benign Het
Ubtfl1 T A 9: 18,320,849 (GRCm39) Y126N possibly damaging Het
Uck1 G T 2: 32,148,149 (GRCm39) Q192K probably damaging Het
Vdac3-ps1 A G 13: 18,205,469 (GRCm39) noncoding transcript Het
Vmn1r88 C T 7: 12,911,719 (GRCm39) S25L probably benign Het
Vmn2r109 T G 17: 20,761,342 (GRCm39) I672L probably benign Het
Vmn2r23 T C 6: 123,718,819 (GRCm39) F724S probably damaging Het
Vmn2r54 A T 7: 12,366,088 (GRCm39) F282Y probably damaging Het
Vmn2r82 A T 10: 79,215,057 (GRCm39) I347F probably benign Het
Wasf2 G A 4: 132,923,112 (GRCm39) R474H probably damaging Het
Zmym5 T C 14: 57,041,617 (GRCm39) H162R possibly damaging Het
Other mutations in Figla
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1584:Figla UTSW 6 85,997,764 (GRCm39) missense probably benign 0.06
R2029:Figla UTSW 6 85,997,624 (GRCm39) intron probably benign
R3433:Figla UTSW 6 85,994,411 (GRCm39) missense probably damaging 1.00
R5682:Figla UTSW 6 85,995,604 (GRCm39) missense probably damaging 1.00
R6379:Figla UTSW 6 85,995,562 (GRCm39) missense probably damaging 1.00
R7762:Figla UTSW 6 85,994,308 (GRCm39) missense probably benign
R8723:Figla UTSW 6 85,997,724 (GRCm39) missense probably benign 0.05
R9495:Figla UTSW 6 85,997,689 (GRCm39) missense probably benign 0.00
R9514:Figla UTSW 6 85,997,689 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07