Incidental Mutation 'IGL02666:Inhba'
ID302754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inhba
Ensembl Gene ENSMUSG00000041324
Gene Nameinhibin beta-A
Synonymsactivin
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02666
Quality Score
Status
Chromosome13
Chromosomal Location16011851-16031621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 16027079 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 409 (I409F)
Ref Sequence ENSEMBL: ENSMUSP00000132085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042603] [ENSMUST00000164993]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042603
AA Change: I409F

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047894
Gene: ENSMUSG00000041324
AA Change: I409F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TGFb_propeptide 37 294 9.5e-20 PFAM
TGFB 319 424 1.3e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000164993
AA Change: I409F

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132085
Gene: ENSMUSG00000041324
AA Change: I409F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:TGFb_propeptide 45 293 3.8e-12 PFAM
TGFB 319 424 1.3e-58 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223477
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Homozygous knockout mice for this gene lack whiskers and exhibit tooth and palate defects, leading to neonatal lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a targeted null mutation lack vibrissae and lower incisors, have defects in their secondary palates, and die shortly after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 noncoding transcript Het
Abca15 G A 7: 120,335,208 V136M probably damaging Het
Abhd3 A G 18: 10,645,148 I382T probably benign Het
Cux1 C A 5: 136,275,315 E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 I155V probably damaging Het
Ddx24 T C 12: 103,424,055 T226A possibly damaging Het
Diexf G A 1: 193,107,596 Q752* probably null Het
Dld T C 12: 31,332,409 N465S probably null Het
Dnmbp A G 19: 43,854,127 probably benign Het
Dock9 T C 14: 121,580,699 H1580R probably benign Het
Drd3 C A 16: 43,816,956 probably benign Het
Gabrb2 G T 11: 42,529,495 probably null Het
Gbp9 T C 5: 105,094,275 probably null Het
Iqgap2 T C 13: 95,628,056 N1560S probably damaging Het
Itsn1 A G 16: 91,820,718 probably benign Het
Kat6b T C 14: 21,628,870 F434L probably damaging Het
Klra1 A G 6: 130,364,315 C232R probably damaging Het
Krt18 T A 15: 102,029,867 I175N probably damaging Het
Lck A G 4: 129,556,419 V178A probably damaging Het
Mroh4 C A 15: 74,609,775 G737V probably benign Het
Mug2 A C 6: 122,081,326 L1282F probably damaging Het
Myo9a A G 9: 59,924,904 N2572S probably benign Het
Nup88 G T 11: 70,943,869 probably benign Het
Nxph3 G T 11: 95,511,008 H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 H308N probably benign Het
Orm2 A G 4: 63,365,733 T198A possibly damaging Het
Pom121 T C 5: 135,386,832 I397V unknown Het
Prex1 C A 2: 166,572,989 E1313D probably benign Het
Prkg2 T A 5: 98,997,519 probably benign Het
Prl2a1 A T 13: 27,806,327 K86N possibly damaging Het
Ptpro G A 6: 137,378,059 S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 I1100F probably benign Het
Ryr1 C A 7: 29,019,763 M4406I unknown Het
Sdf4 T A 4: 156,008,824 Y204* probably null Het
Serinc1 A T 10: 57,523,993 probably null Het
Slc39a5 C T 10: 128,398,455 R193H probably damaging Het
Smad9 A G 3: 54,782,467 K36R probably damaging Het
Spam1 T A 6: 24,796,124 L25I possibly damaging Het
Stab2 A T 10: 86,850,902 S809R possibly damaging Het
Szt2 G A 4: 118,374,055 R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 probably benign Het
Tfap2d A C 1: 19,104,755 D144A probably benign Het
Tmprss11d A T 5: 86,331,193 V117D probably damaging Het
Tnxb A G 17: 34,684,939 D1141G probably benign Het
Traf6 A T 2: 101,697,167 T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 probably benign Het
Vmn1r73 C A 7: 11,756,938 P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 I784T probably benign Het
Zfp420 A G 7: 29,874,370 D5G probably benign Het
Other mutations in Inhba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Inhba APN 13 16026972 missense probably benign 0.00
IGL03138:Inhba UTSW 13 16017514 missense probably benign
R0020:Inhba UTSW 13 16026364 missense possibly damaging 0.46
R0591:Inhba UTSW 13 16026820 missense probably damaging 1.00
R1510:Inhba UTSW 13 16027022 missense probably damaging 0.99
R1667:Inhba UTSW 13 16026624 missense possibly damaging 0.90
R1966:Inhba UTSW 13 16026636 missense probably damaging 1.00
R4710:Inhba UTSW 13 16026483 missense probably benign
R4893:Inhba UTSW 13 16026549 missense possibly damaging 0.61
R5472:Inhba UTSW 13 16026786 missense probably damaging 0.99
R5905:Inhba UTSW 13 16017308 missense probably benign 0.05
R7555:Inhba UTSW 13 16017637 missense probably benign 0.28
Posted On2015-04-16