Incidental Mutation 'R8920:Inhbb'
ID 679173
Institutional Source Beutler Lab
Gene Symbol Inhbb
Ensembl Gene ENSMUSG00000037035
Gene Name inhibin beta-B
Synonyms activin beta-B
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.486) question?
Stock # R8920 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 119343195-119349978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119345107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 394 (N394S)
Ref Sequence ENSEMBL: ENSMUSP00000044918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038765]
AlphaFold Q04999
Predicted Effect probably damaging
Transcript: ENSMUST00000038765
AA Change: N394S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044918
Gene: ENSMUSG00000037035
AA Change: N394S

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa10 T A 8: 62,527,580 (GRCm39) Q160L probably benign Het
Apc2 A T 10: 80,149,934 (GRCm39) I1663L probably benign Het
Bahcc1 C G 11: 120,175,331 (GRCm39) R1802G probably damaging Het
C1qtnf1 T C 11: 118,339,068 (GRCm39) V246A possibly damaging Het
Cbl A G 9: 44,078,570 (GRCm39) M267T probably damaging Het
Cd300lf T C 11: 115,017,180 (GRCm39) K48E probably benign Het
Cfap46 G T 7: 139,232,442 (GRCm39) N840K Het
Cfap54 T A 10: 92,776,199 (GRCm39) probably null Het
Cnrip1 A C 11: 17,005,003 (GRCm39) K184N unknown Het
Dnah11 A T 12: 118,077,674 (GRCm39) L1273Q probably damaging Het
Dyrk1a T G 16: 94,460,488 (GRCm39) I48R probably benign Het
Exoc7 T C 11: 116,180,055 (GRCm39) E683G probably benign Het
Hdac1-ps A G 17: 78,799,171 (GRCm39) Y54C probably benign Het
Igtp A T 11: 58,096,999 (GRCm39) I57F probably damaging Het
Jag1 T C 2: 136,931,143 (GRCm39) H663R probably benign Het
Kcna6 A G 6: 126,716,610 (GRCm39) F93S probably damaging Het
L1td1 C A 4: 98,624,864 (GRCm39) S353* probably null Het
Lgals12 T C 19: 7,576,166 (GRCm39) I253V possibly damaging Het
Lgals4 C T 7: 28,540,289 (GRCm39) R195C probably benign Het
Lrp1b A T 2: 42,213,610 (GRCm39) D67E Het
Lrrc43 T C 5: 123,639,194 (GRCm39) S408P probably benign Het
Madd T C 2: 91,007,168 (GRCm39) I315V probably benign Het
Mdn1 T C 4: 32,719,280 (GRCm39) F2281S probably damaging Het
Med13l A T 5: 118,885,543 (GRCm39) K1499* probably null Het
Myoc A G 1: 162,475,127 (GRCm39) E226G probably benign Het
Nmur1 T C 1: 86,315,577 (GRCm39) Y96C probably damaging Het
Nwd2 A T 5: 63,948,863 (GRCm39) D145V probably damaging Het
Or7g18 C A 9: 18,787,394 (GRCm39) T254K probably damaging Het
Paqr8 A T 1: 21,005,245 (GRCm39) Q133L probably damaging Het
Plbd2 T C 5: 120,630,915 (GRCm39) D230G probably damaging Het
Plekha7 A G 7: 115,744,218 (GRCm39) I694T probably benign Het
Rnf139 C T 15: 58,771,529 (GRCm39) T518I possibly damaging Het
Ryr1 G T 7: 28,789,640 (GRCm39) S1498R possibly damaging Het
Senp6 T A 9: 79,999,561 (GRCm39) S72T probably benign Het
Slc12a7 C T 13: 73,946,568 (GRCm39) P554S probably damaging Het
Slc6a2 C A 8: 93,687,990 (GRCm39) R39S probably benign Het
Snrpe T G 1: 133,534,199 (GRCm39) H88P probably benign Het
Stard9 T A 2: 120,533,088 (GRCm39) V3115E probably damaging Het
Stk39 C T 2: 68,302,191 (GRCm39) V11I unknown Het
Tapbpl T C 6: 125,205,214 (GRCm39) Y244C probably damaging Het
Tpx2 A G 2: 152,726,214 (GRCm39) E393G probably damaging Het
Vmn2r100 A T 17: 19,741,620 (GRCm39) N111Y probably damaging Het
Vstm4 C T 14: 32,585,615 (GRCm39) R61C probably damaging Het
Washc2 T A 6: 116,221,615 (GRCm39) F698I possibly damaging Het
Zfp467 G A 6: 48,415,414 (GRCm39) P413S probably benign Het
Zfp532 G T 18: 65,820,390 (GRCm39) A992S probably benign Het
Zfp622 G A 15: 25,996,321 (GRCm39) W430* probably null 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
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
Z1176:Inhbb UTSW 1 119,345,528 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCTGACTGGTTTTCTACAAAGCG -3'
(R):5'- TGGCTACTACGGGAACTACTG -3'

Sequencing Primer
(F):5'- CGGGAGAACATTATTTCAGGCCTC -3'
(R):5'- CTACTACGGGAACTACTGTGAGG -3'
Posted On 2021-08-02