Incidental Mutation 'R9505:Inhba'
ID 717792
Institutional Source Beutler Lab
Gene Symbol Inhba
Ensembl Gene ENSMUSG00000041324
Gene Name inhibin beta-A
Synonyms activin beta-A
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 16186436-16206206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16201356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 306 (R306H)
Ref Sequence ENSEMBL: ENSMUSP00000047894 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042603] [ENSMUST00000164993]
AlphaFold Q04998
Predicted Effect probably damaging
Transcript: ENSMUST00000042603
AA Change: R306H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047894
Gene: ENSMUSG00000041324
AA Change: R306H

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 probably damaging
Transcript: ENSMUST00000164993
AA Change: R306H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132085
Gene: ENSMUSG00000041324
AA Change: R306H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,185,782 (GRCm39) probably benign Het
Adamts17 A C 7: 66,774,683 (GRCm39) N961T probably benign Het
Adamts3 G A 5: 89,855,751 (GRCm39) T373I probably damaging Het
Bcan G A 3: 87,900,748 (GRCm39) P495L probably benign Het
Bicd1 A C 6: 149,385,522 (GRCm39) E85A probably benign Het
Brca1 G T 11: 101,403,592 (GRCm39) H1437N probably benign Het
Camk2n1 T C 4: 138,182,567 (GRCm39) I24T possibly damaging Het
Ces2f T A 8: 105,676,669 (GRCm39) M121K probably benign Het
Cfap299 A G 5: 98,477,213 (GRCm39) M1V probably null Het
CN725425 T A 15: 91,124,867 (GRCm39) Y136N possibly damaging Het
Ctla2a T A 13: 61,084,342 (GRCm39) M2L unknown Het
Cyp3a57 A T 5: 145,286,139 (GRCm39) Y25F probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Dnah3 A T 7: 119,644,912 (GRCm39) I1123N probably damaging Het
Fcgbpl1 A T 7: 27,841,909 (GRCm39) K615* probably null Het
Fkbp10 G T 11: 100,306,826 (GRCm39) E73* probably null Het
Flnb C A 14: 7,904,665 (GRCm38) H1023N probably benign Het
Gapvd1 T A 2: 34,613,026 (GRCm39) Q312H Het
Garre1 A T 7: 33,984,371 (GRCm39) L84Q probably damaging Het
Htr1d A T 4: 136,170,889 (GRCm39) I373F probably benign Het
Inka1 T A 9: 107,862,092 (GRCm39) K75* probably null Het
Iqcg A T 16: 32,861,247 (GRCm39) D156E probably benign Het
Ireb2 C A 9: 54,813,921 (GRCm39) T798K probably damaging Het
Klk1b8 G A 7: 43,451,605 (GRCm39) A199T probably damaging Het
Lgi2 T C 5: 52,711,775 (GRCm39) T182A probably benign Het
Ltbp2 C A 12: 84,900,638 (GRCm39) R228L probably damaging Het
Lyrm1 A G 7: 119,509,090 (GRCm39) K22E possibly damaging Het
Mybbp1a A G 11: 72,339,897 (GRCm39) D967G probably benign Het
Nr6a1 C T 2: 38,630,485 (GRCm39) R259Q probably benign Het
Or4e2 A G 14: 52,687,929 (GRCm39) N20D probably benign Het
Or51aa5 T C 7: 103,167,446 (GRCm39) I48M probably benign Het
Or51i1 C A 7: 103,670,698 (GRCm39) V276F probably damaging Het
Pak5 A T 2: 135,958,812 (GRCm39) I92N probably damaging Het
Pcdhb5 T A 18: 37,454,664 (GRCm39) I348K possibly damaging Het
Phf2 C T 13: 48,957,134 (GRCm39) A1078T probably damaging Het
Rnf103 T C 6: 71,487,049 (GRCm39) V560A probably benign Het
Slc27a4 A G 2: 29,701,608 (GRCm39) I409V probably benign Het
Spata18 T A 5: 73,809,017 (GRCm39) probably null Het
Spon1 A G 7: 113,632,311 (GRCm39) T545A probably damaging Het
Stab1 A G 14: 30,877,722 (GRCm39) S772P probably damaging Het
Stox2 A T 8: 47,645,304 (GRCm39) S719T probably benign Het
Syne1 A G 10: 4,980,394 (GRCm39) V864A probably benign Het
Syngap1 A G 17: 27,180,579 (GRCm39) S836G probably benign Het
Tiparp G T 3: 65,439,577 (GRCm39) E298* probably null Het
Tmem52 A G 4: 155,554,615 (GRCm39) T114A probably damaging Het
Trim36 C A 18: 46,329,281 (GRCm39) C53F probably damaging Het
Ttn T C 2: 76,720,811 (GRCm39) K6871R unknown Het
Ttn C A 2: 76,715,468 (GRCm39) probably null Het
Ube2d1 T C 10: 71,098,094 (GRCm39) probably null Het
Unc13c T C 9: 73,838,824 (GRCm39) T676A probably benign Het
Vinac1 A T 2: 128,878,838 (GRCm39) D1029E unknown Het
Vps13a A T 19: 16,719,908 (GRCm39) Y417N possibly damaging Het
Zfp729a C T 13: 67,767,673 (GRCm39) C852Y probably damaging Het
Other mutations in Inhba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02116:Inhba APN 13 16,201,557 (GRCm39) missense probably benign 0.00
IGL02666:Inhba APN 13 16,201,664 (GRCm39) missense possibly damaging 0.87
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
Predicted Primers PCR Primer
(F):5'- TGGTGCCAGTCTAGTGCTTC -3'
(R):5'- CATGACTTAAGGTTGGCAAAGG -3'

Sequencing Primer
(F):5'- CAGTCTAGTGCTTCTGGGCAAG -3'
(R):5'- CCTCATGCGGTAGTGGTTAATGAC -3'
Posted On 2022-07-18