Incidental Mutation 'R3966:Inhbb'
ID 312333
Institutional Source Beutler Lab
Gene Symbol Inhbb
Ensembl Gene ENSMUSG00000037035
Gene Name inhibin beta-B
Synonyms activin beta-B
MMRRC Submission 040935-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.486) question?
Stock # R3966 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 119343195-119349978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119345291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 333 (G333W)
Ref Sequence ENSEMBL: ENSMUSP00000044918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038765]
AlphaFold Q04999
Predicted Effect probably damaging
Transcript: ENSMUST00000038765
AA Change: G333W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044918
Gene: ENSMUSG00000037035
AA Change: G333W

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:TGFb_propeptide 66 282 1.4e-13 PFAM
TGFB 307 411 5.55e-53 SMART
Meta Mutation Damage Score 0.5619 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 96% (47/49)
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. Homozygous knockout mice for this gene exhibit eyelid defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Some homozygotes for targeted null mutations exhibit open eyes at birth and impaired maternal nuturing. Mutant females for one line exhibit extended gestation length, retarded mammary duct elongation and alveolar morphogenesis, and are unable to nurse their pups. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T C 1: 89,762,183 (GRCm39) I371T probably damaging Het
Brwd1 G A 16: 95,845,730 (GRCm39) T731I probably damaging Het
C1galt1c1 A T X: 37,720,453 (GRCm39) V181E probably benign Het
C3 A G 17: 57,525,664 (GRCm39) V864A probably damaging Het
Cadps A T 14: 12,522,161 (GRCm38) probably null Het
Cemip T A 7: 83,600,717 (GRCm39) Y968F probably benign Het
Ces1g C A 8: 94,055,139 (GRCm39) R186L possibly damaging Het
Chd2 A G 7: 73,114,143 (GRCm39) probably benign Het
Clptm1l T C 13: 73,764,091 (GRCm39) Y404H probably damaging Het
CN725425 T A 15: 91,126,890 (GRCm39) probably null Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Cyp1a1 T A 9: 57,607,432 (GRCm39) V20D probably benign Het
E330034G19Rik G T 14: 24,356,939 (GRCm39) M158I unknown Het
Ehbp1l1 C T 19: 5,760,601 (GRCm39) probably null Het
Gm14137 T A 2: 119,005,497 (GRCm39) S19T probably benign Het
Gpr141b A G 13: 19,913,614 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Kcnb1 C T 2: 166,946,412 (GRCm39) C812Y probably damaging Het
Kdm4c A G 4: 74,216,820 (GRCm39) D193G probably damaging Het
Mbd5 A T 2: 49,162,082 (GRCm39) I855L possibly damaging Het
Mcpt1 G A 14: 56,256,503 (GRCm39) V80M probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Megf10 A G 18: 57,313,646 (GRCm39) D30G probably damaging Het
Ms4a6b T C 19: 11,499,098 (GRCm39) S71P probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Mycbp2 A G 14: 103,376,161 (GRCm39) probably benign Het
Myrf T C 19: 10,196,979 (GRCm39) E267G probably benign Het
Ncor1 T C 11: 62,235,583 (GRCm39) T624A probably damaging Het
Nfat5 G T 8: 108,093,921 (GRCm39) A721S possibly damaging Het
Nfatc2 C T 2: 168,346,469 (GRCm39) S875N probably benign Het
Npm1 C T 11: 33,110,350 (GRCm39) G148D probably benign Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Nucb2 A G 7: 116,128,110 (GRCm39) E273G probably damaging Het
Prkd1 C T 12: 50,439,724 (GRCm39) E368K probably benign Het
Ptgs2 T A 1: 149,981,226 (GRCm39) I503N probably damaging Het
Qrfpr A G 3: 36,235,149 (GRCm39) S243P possibly damaging Het
Safb2 T C 17: 56,882,356 (GRCm39) S426G probably null Het
Sos1 C T 17: 80,762,608 (GRCm39) R73H probably damaging Het
Spink10 T C 18: 62,790,975 (GRCm39) I87T probably damaging Het
Tet2 A G 3: 133,193,418 (GRCm39) S339P possibly damaging Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tmx4 T C 2: 134,441,981 (GRCm39) I206V possibly damaging Het
Tom1 A G 8: 75,785,867 (GRCm39) K360E probably benign Het
Trp73 A G 4: 154,146,493 (GRCm39) V422A probably benign Het
Vmn2r33 T C 7: 7,557,168 (GRCm39) M511V probably benign Het
Zfp628 T C 7: 4,924,744 (GRCm39) S989P probably benign Het
Other mutations in Inhbb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Inhbb APN 1 119,345,713 (GRCm39) missense probably benign 0.33
R0091:Inhbb UTSW 1 119,345,125 (GRCm39) missense probably damaging 1.00
R0609:Inhbb UTSW 1 119,345,146 (GRCm39) missense probably damaging 1.00
R1352:Inhbb UTSW 1 119,348,425 (GRCm39) missense probably benign 0.30
R2119:Inhbb UTSW 1 119,348,431 (GRCm39) missense probably benign 0.04
R3964:Inhbb UTSW 1 119,345,291 (GRCm39) missense probably damaging 1.00
R4996:Inhbb UTSW 1 119,348,548 (GRCm39) missense probably damaging 1.00
R5709:Inhbb UTSW 1 119,345,260 (GRCm39) missense probably damaging 0.97
R5973:Inhbb UTSW 1 119,345,806 (GRCm39) missense possibly damaging 0.70
R6376:Inhbb UTSW 1 119,345,411 (GRCm39) missense probably damaging 1.00
R6499:Inhbb UTSW 1 119,345,069 (GRCm39) missense probably damaging 1.00
R6685:Inhbb UTSW 1 119,345,335 (GRCm39) missense probably damaging 1.00
R7158:Inhbb UTSW 1 119,348,752 (GRCm39) nonsense probably null
R7498:Inhbb UTSW 1 119,345,608 (GRCm39) missense probably damaging 1.00
R8920:Inhbb UTSW 1 119,345,107 (GRCm39) missense probably damaging 1.00
Z1176:Inhbb UTSW 1 119,345,528 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTCGTCATCAAAGTAGAGCATG -3'
(R):5'- GATGTGCAGTGTGACAGCTG -3'

Sequencing Primer
(F):5'- CATGGACATGGAGCTCAGCTTG -3'
(R):5'- AGTGTGACAGCTGCCAGG -3'
Posted On 2015-04-29