Incidental Mutation 'IGL02666:Inhba'
ID 302754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inhba
Ensembl Gene ENSMUSG00000041324
Gene Name inhibin beta-A
Synonyms activin beta-A
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02666
Quality Score
Chromosome 13
Chromosomal Location 16186436-16206206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 16201664 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q04998
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

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

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: 25,138,944 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,934,431 (GRCm39) V136M probably damaging Het
Abhd3 A G 18: 10,645,148 (GRCm39) I382T probably benign Het
Cux1 C A 5: 136,304,169 (GRCm39) E1336* probably null Het
Cyb5r3 T C 15: 83,044,554 (GRCm39) I155V probably damaging Het
Ddx24 T C 12: 103,390,314 (GRCm39) T226A possibly damaging Het
Dld T C 12: 31,382,408 (GRCm39) N465S probably null Het
Dnmbp A G 19: 43,842,566 (GRCm39) probably benign Het
Dock9 T C 14: 121,818,111 (GRCm39) H1580R probably benign Het
Drd3 C A 16: 43,637,319 (GRCm39) probably benign Het
Gabrb2 G T 11: 42,420,322 (GRCm39) probably null Het
Gbp9 T C 5: 105,242,141 (GRCm39) probably null Het
Iqgap2 T C 13: 95,764,564 (GRCm39) N1560S probably damaging Het
Itsn1 A G 16: 91,617,606 (GRCm39) probably benign Het
Kat6b T C 14: 21,678,938 (GRCm39) F434L probably damaging Het
Klra1 A G 6: 130,341,278 (GRCm39) C232R probably damaging Het
Krt18 T A 15: 101,938,302 (GRCm39) I175N probably damaging Het
Lck A G 4: 129,450,212 (GRCm39) V178A probably damaging Het
Mroh4 C A 15: 74,481,624 (GRCm39) G737V probably benign Het
Mug2 A C 6: 122,058,285 (GRCm39) L1282F probably damaging Het
Myo9a A G 9: 59,832,187 (GRCm39) N2572S probably benign Het
Nup88 G T 11: 70,834,695 (GRCm39) probably benign Het
Nxph3 G T 11: 95,401,834 (GRCm39) H193Q possibly damaging Het
Or5b97 G T 19: 12,878,221 (GRCm39) H308N probably benign Het
Orm2 A G 4: 63,283,970 (GRCm39) T198A possibly damaging Het
Pom121 T C 5: 135,415,686 (GRCm39) I397V unknown Het
Prex1 C A 2: 166,414,909 (GRCm39) E1313D probably benign Het
Prkg2 T A 5: 99,145,378 (GRCm39) probably benign Het
Prl2a1 A T 13: 27,990,310 (GRCm39) K86N possibly damaging Het
Ptpro G A 6: 137,355,057 (GRCm39) S188N probably damaging Het
Ptprz1 A T 6: 23,001,209 (GRCm39) I1100F probably benign Het
Ryr1 C A 7: 28,719,188 (GRCm39) M4406I unknown Het
Sdf4 T A 4: 156,093,281 (GRCm39) Y204* probably null Het
Serinc1 A T 10: 57,400,089 (GRCm39) probably null Het
Slc39a5 C T 10: 128,234,324 (GRCm39) R193H probably damaging Het
Smad9 A G 3: 54,689,888 (GRCm39) K36R probably damaging Het
Spam1 T A 6: 24,796,123 (GRCm39) L25I possibly damaging Het
Stab2 A T 10: 86,686,766 (GRCm39) S809R possibly damaging Het
Szt2 G A 4: 118,231,252 (GRCm39) R35C probably damaging Het
Tcaf2 C A 6: 42,606,058 (GRCm39) probably benign Het
Tfap2d A C 1: 19,174,979 (GRCm39) D144A probably benign Het
Tmprss11d A T 5: 86,479,052 (GRCm39) V117D probably damaging Het
Tnxb A G 17: 34,903,913 (GRCm39) D1141G probably benign Het
Traf6 A T 2: 101,527,512 (GRCm39) T421S possibly damaging Het
Txndc16 G A 14: 45,448,607 (GRCm39) probably benign Het
Utp25 G A 1: 192,789,904 (GRCm39) Q752* probably null Het
Vmn1r73 C A 7: 11,490,865 (GRCm39) P228T probably damaging Het
Vmn2r4 A G 3: 64,296,433 (GRCm39) I784T probably benign Het
Zfp420 A G 7: 29,573,795 (GRCm39) D5G probably benign Het
Other mutations in Inhba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Inhba APN 13 16,201,557 (GRCm39) missense probably benign 0.00
IGL03138:Inhba UTSW 13 16,192,099 (GRCm39) missense probably benign
R0020:Inhba UTSW 13 16,200,949 (GRCm39) missense possibly damaging 0.46
R0591:Inhba UTSW 13 16,201,405 (GRCm39) missense probably damaging 1.00
R1510:Inhba UTSW 13 16,201,607 (GRCm39) missense probably damaging 0.99
R1667:Inhba UTSW 13 16,201,209 (GRCm39) missense possibly damaging 0.90
R1966:Inhba UTSW 13 16,201,221 (GRCm39) missense probably damaging 1.00
R4710:Inhba UTSW 13 16,201,068 (GRCm39) missense probably benign
R4893:Inhba UTSW 13 16,201,134 (GRCm39) missense possibly damaging 0.61
R5472:Inhba UTSW 13 16,201,371 (GRCm39) missense probably damaging 0.99
R5905:Inhba UTSW 13 16,191,893 (GRCm39) missense probably benign 0.05
R7555:Inhba UTSW 13 16,192,222 (GRCm39) missense probably benign 0.28
R7965:Inhba UTSW 13 16,201,572 (GRCm39) missense possibly damaging 0.75
R8031:Inhba UTSW 13 16,200,860 (GRCm39) missense possibly damaging 0.86
R8997:Inhba UTSW 13 16,201,107 (GRCm39) missense possibly damaging 0.94
R9004:Inhba UTSW 13 16,201,526 (GRCm39) missense probably benign 0.05
R9359:Inhba UTSW 13 16,191,966 (GRCm39) missense probably benign 0.01
R9403:Inhba UTSW 13 16,191,966 (GRCm39) missense probably benign 0.01
R9474:Inhba UTSW 13 16,192,263 (GRCm39) missense probably benign 0.03
R9505:Inhba UTSW 13 16,201,356 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16