Incidental Mutation 'R1352:Inhbb'
ID 156686
Institutional Source Beutler Lab
Gene Symbol Inhbb
Ensembl Gene ENSMUSG00000037035
Gene Name inhibin beta-B
Synonyms activin beta-B
MMRRC Submission 039417-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R1352 (G1)
Quality Score 209
Status Validated
Chromosome 1
Chromosomal Location 119343195-119349978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119348425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 131 (D131G)
Ref Sequence ENSEMBL: ENSMUSP00000044918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038765]
AlphaFold Q04999
Predicted Effect probably benign
Transcript: ENSMUST00000038765
AA Change: D131G

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044918
Gene: ENSMUSG00000037035
AA Change: D131G

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 0.0599 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.5%
Validation Efficiency 95% (42/44)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,784,892 (GRCm39) probably benign Het
Acbd3 T A 1: 180,566,095 (GRCm39) Y263N probably damaging Het
Aldh4a1 T C 4: 139,362,830 (GRCm39) V142A probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cass4 T C 2: 172,258,415 (GRCm39) S138P probably damaging Het
Cbln4 T C 2: 171,879,376 (GRCm39) K171E possibly damaging Het
Cd226 A G 18: 89,265,298 (GRCm39) Y79C probably damaging Het
Dclre1a T C 19: 56,533,595 (GRCm39) D333G probably damaging Het
Dst T A 1: 34,268,329 (GRCm39) probably null Het
Eml5 A G 12: 98,797,262 (GRCm39) probably benign Het
Evx1 T C 6: 52,293,995 (GRCm39) S388P probably damaging Het
Gins1 T A 2: 150,772,768 (GRCm39) L177* probably null Het
Gm5422 A C 10: 31,126,731 (GRCm39) noncoding transcript Het
Gmppa T A 1: 75,417,178 (GRCm39) D204E probably benign Het
Ifna7 A C 4: 88,734,897 (GRCm39) T145P possibly damaging Het
Itpr2 T C 6: 146,013,240 (GRCm39) K2679E probably damaging Het
Kif20b C A 19: 34,902,035 (GRCm39) H4N probably benign Het
Kng1 G T 16: 22,886,444 (GRCm39) probably null Het
Lrrfip1 C T 1: 91,043,089 (GRCm39) A498V probably benign Het
Myo3a T A 2: 22,328,486 (GRCm39) probably null Het
Nkapl T C 13: 21,652,230 (GRCm39) R128G unknown Het
Or51v8 T C 7: 103,319,518 (GRCm39) H240R probably damaging Het
Or5bw2 A T 7: 6,573,782 (GRCm39) Y264F probably benign Het
Prlr T C 15: 10,328,872 (GRCm39) V449A probably benign Het
Rbm44 C A 1: 91,080,764 (GRCm39) D317E probably damaging Het
Sirt5 T C 13: 43,548,283 (GRCm39) S310P probably damaging Het
Spice1 T C 16: 44,207,185 (GRCm39) S856P probably damaging Het
Sptan1 T A 2: 29,911,199 (GRCm39) probably benign Het
St6gal1 A G 16: 23,140,401 (GRCm39) K191E probably damaging Het
Stat6 A T 10: 127,486,680 (GRCm39) Q152L probably benign Het
Stk3 T C 15: 35,008,371 (GRCm39) D253G probably damaging Het
Tas2r139 C T 6: 42,117,874 (GRCm39) A2V probably benign Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Topbp1 T A 9: 103,224,207 (GRCm39) C1445S probably benign Het
Trappc11 A T 8: 47,978,081 (GRCm39) H195Q possibly damaging Het
Ttc21a A T 9: 119,783,718 (GRCm39) E600V possibly damaging Het
Ttn T C 2: 76,677,041 (GRCm39) probably benign Het
Vmn2r88 T C 14: 51,656,007 (GRCm39) S740P probably damaging Het
Wrn A C 8: 33,784,944 (GRCm39) V476G probably benign Het
Zdbf2 C A 1: 63,342,212 (GRCm39) A197E probably damaging 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
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
R3966: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'- CGCAGTATAGAAAAGGACTGCCACC -3'
(R):5'- TGAAGAGACACATCTTGAGCCGCC -3'

Sequencing Primer
(F):5'- TCTGCCCGGAGCCTAAATG -3'
(R):5'- CATCACGCACGCTGTCC -3'
Posted On 2014-02-11