Incidental Mutation 'R5973:Inhbb'
ID 471505
Institutional Source Beutler Lab
Gene Symbol Inhbb
Ensembl Gene ENSMUSG00000037035
Gene Name inhibin beta-B
Synonyms activin beta-B
MMRRC Submission 044156-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.548) question?
Stock # R5973 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 119343195-119349978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119345806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 161 (V161D)
Ref Sequence ENSEMBL: ENSMUSP00000044918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038765]
AlphaFold Q04999
Predicted Effect possibly damaging
Transcript: ENSMUST00000038765
AA Change: V161D

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044918
Gene: ENSMUSG00000037035
AA Change: V161D

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.3%
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. 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,364,928 (GRCm39) I1536N probably damaging Het
Actr1b A G 1: 36,741,162 (GRCm39) S140P probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc7 A T 5: 122,566,366 (GRCm39) T92S probably benign Het
Ash2l G A 8: 26,307,642 (GRCm39) T585M possibly damaging Het
Asxl1 T C 2: 153,243,931 (GRCm39) F1495L probably damaging Het
Atp5pf T C 16: 84,625,328 (GRCm39) probably null Het
Bcl2a1c A G 9: 114,159,465 (GRCm39) N81S probably benign Het
Bfsp2 A C 9: 103,309,856 (GRCm39) probably null Het
Casq1 A G 1: 172,047,068 (GRCm39) Y64H probably damaging Het
Ceacam16 A G 7: 19,590,262 (GRCm39) V227A probably damaging Het
Cers6 T A 2: 68,898,969 (GRCm39) probably null Het
Chrnb1 A G 11: 69,686,671 (GRCm39) probably benign Het
Clpb G A 7: 101,313,204 (GRCm39) V63I probably benign Het
Dnah11 G T 12: 118,074,687 (GRCm39) D1388E probably benign Het
Dst T C 1: 34,195,938 (GRCm39) L405P probably damaging Het
Dstyk A G 1: 132,362,149 (GRCm39) E193G probably damaging Het
Dusp2 A T 2: 127,179,208 (GRCm39) S188C probably damaging Het
Ep400 T C 5: 110,877,697 (GRCm39) I810V unknown Het
Faim2 C T 15: 99,419,132 (GRCm39) G79D probably benign Het
Fpgt A T 3: 154,793,040 (GRCm39) I329K probably damaging Het
Fut8 A G 12: 77,411,771 (GRCm39) T78A probably benign Het
Gm15130 A G 2: 110,965,714 (GRCm39) probably benign Het
Gm17087 A C 17: 8,785,529 (GRCm39) I58R probably benign Het
Grk2 T C 19: 4,337,925 (GRCm39) D485G possibly damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hmcn1 A G 1: 150,439,568 (GRCm39) S5539P probably damaging Het
Hmcn2 G A 2: 31,310,335 (GRCm39) V3310M probably damaging Het
Impdh1 A T 6: 29,207,161 (GRCm39) L61Q probably damaging Het
Kansl2 C T 15: 98,427,306 (GRCm39) V192M probably damaging Het
Krt1c T C 15: 101,724,747 (GRCm39) K288E probably damaging Het
Lyar A G 5: 38,385,290 (GRCm39) K110R probably damaging Het
Lyrm9 C A 11: 78,726,961 (GRCm39) H35N probably damaging Het
Mab21l1 A G 3: 55,690,533 (GRCm39) D40G probably benign Het
Maml2 A C 9: 13,532,915 (GRCm39) probably benign Het
Mbd5 A G 2: 49,162,401 (GRCm39) H69R probably benign Het
Morc2b G T 17: 33,356,446 (GRCm39) A442E probably damaging Het
Moxd2 A T 6: 40,855,744 (GRCm39) L615Q probably damaging Het
Msh2 G A 17: 88,016,011 (GRCm39) G548S probably damaging Het
Napg G A 18: 63,128,054 (GRCm39) S279N possibly damaging Het
Ncor1 A T 11: 62,240,136 (GRCm39) probably null Het
Nkiras2 G T 11: 100,516,866 (GRCm39) R128L probably damaging Het
Npy4r T C 14: 33,868,664 (GRCm39) D208G probably benign Het
Or10ak11 C T 4: 118,687,413 (GRCm39) V75I probably benign Het
Or52e2 A G 7: 102,804,081 (GRCm39) V291A possibly damaging Het
Or8b42 G T 9: 38,341,627 (GRCm39) L16F probably damaging Het
Pcdhgb2 A G 18: 37,823,560 (GRCm39) T184A probably benign Het
Plxna4 T C 6: 32,228,000 (GRCm39) probably null Het
Pnldc1 C T 17: 13,113,260 (GRCm39) E328K probably benign Het
Pon1 T A 6: 5,185,334 (GRCm39) L55F probably damaging Het
Pramel51 T C 12: 88,142,683 (GRCm39) I312V probably benign Het
Prkci G T 3: 31,092,605 (GRCm39) D296Y probably damaging Het
Prkd1 T C 12: 50,435,038 (GRCm39) H563R probably damaging Het
Ptpru T C 4: 131,546,236 (GRCm39) N266S probably benign Het
Rapgef6 A T 11: 54,530,609 (GRCm39) I589F probably damaging Het
Rcan3 A T 4: 135,145,853 (GRCm39) S127T probably benign Het
Sh3tc2 A G 18: 62,110,975 (GRCm39) D277G probably benign Het
Sipa1l3 G A 7: 29,098,949 (GRCm39) A440V probably benign Het
Slc13a2 A C 11: 78,291,358 (GRCm39) I372S probably damaging Het
Slco1a7 T A 6: 141,700,182 (GRCm39) T117S probably benign Het
Spns1 A T 7: 125,969,495 (GRCm39) I528N probably damaging Het
Sult6b2 T C 6: 142,736,021 (GRCm39) K191R probably benign Het
Swt1 A G 1: 151,278,700 (GRCm39) probably null Het
Tcn2 A T 11: 3,877,546 (GRCm39) L34* probably null Het
Tmem131l C T 3: 83,829,553 (GRCm39) A1035T possibly damaging Het
Trpc4 A G 3: 54,223,263 (GRCm39) E733G probably damaging Het
Uap1l1 A T 2: 25,254,642 (GRCm39) H184Q possibly damaging Het
Vil1 T G 1: 74,455,192 (GRCm39) V48G possibly damaging Het
Vps39 A T 2: 120,159,186 (GRCm39) H367Q probably damaging Het
Wars2 A G 3: 99,094,962 (GRCm39) T86A probably benign Het
Wdr90 A G 17: 26,064,107 (GRCm39) S1872P probably damaging Het
Wdr90 A G 17: 26,065,381 (GRCm39) L1625P probably damaging Het
Xaf1 A T 11: 72,194,256 (GRCm39) M46L probably damaging Het
Zfp1005 A G 2: 150,109,855 (GRCm39) T182A unknown 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
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
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'- TGTGATGGGAAAGGTATGCC -3'
(R):5'- AGGTCATGGCAGAAACCTGG -3'

Sequencing Primer
(F):5'- GAAAGGTATGCCAGCCGCTAC -3'
(R):5'- GGCCCCAGGAATGGTATTTC -3'
Posted On 2017-03-31