Incidental Mutation 'R0042:Inhbc'
ID 63253
Institutional Source Beutler Lab
Gene Symbol Inhbc
Ensembl Gene ENSMUSG00000025405
Gene Name inhibin beta-C
Synonyms activin beta-C
MMRRC Submission 038336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0042 (G1)
Quality Score 129
Status Validated
Chromosome 10
Chromosomal Location 127192191-127206300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127193302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 238 (I238T)
Ref Sequence ENSEMBL: ENSMUSP00000026472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026472] [ENSMUST00000059718]
AlphaFold P55104
Predicted Effect probably benign
Transcript: ENSMUST00000026472
AA Change: I238T

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: I238T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TGFB 247 352 7.32e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000059718
SMART Domains Protein: ENSMUSP00000053977
Gene: ENSMUSG00000047492

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 144 157 N/A INTRINSIC
TGFB 247 350 3.63e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219640
Meta Mutation Damage Score 0.0917 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (71/71)
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 homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null mutation display decreased serum albumin in females but are fertile with normal liver and reproductive morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,059,245 (GRCm39) probably benign Het
Acr T A 15: 89,458,535 (GRCm39) H405Q probably benign Het
Adad1 T C 3: 37,137,322 (GRCm39) probably benign Het
Alox5ap T C 5: 149,216,069 (GRCm39) probably benign Het
Ank2 T C 3: 126,730,280 (GRCm39) D3568G probably damaging Het
Atl3 T G 19: 7,506,388 (GRCm39) I306S probably damaging Het
Atr T A 9: 95,809,409 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,326,335 (GRCm39) V34A probably benign Het
Cdh12 A C 15: 21,537,763 (GRCm39) probably benign Het
Cib1 C T 7: 79,880,126 (GRCm39) V45M probably benign Het
Col6a6 T C 9: 105,657,896 (GRCm39) E772G possibly damaging Het
Dmxl1 C A 18: 49,997,102 (GRCm39) T466K probably benign Het
Dym T C 18: 75,258,610 (GRCm39) probably null Het
Enpp3 A C 10: 24,650,722 (GRCm39) F805V probably damaging Het
Eya1 T C 1: 14,254,713 (GRCm39) D373G probably damaging Het
Gpr179 C T 11: 97,225,757 (GRCm39) V2133I probably benign Het
Grb10 G T 11: 11,886,798 (GRCm39) H435Q probably damaging Het
Gzmm T C 10: 79,530,399 (GRCm39) I190T probably benign Het
Helt T C 8: 46,745,433 (GRCm39) Y150C probably damaging Het
Hrg A T 16: 22,779,886 (GRCm39) probably benign Het
Il17ra T C 6: 120,449,086 (GRCm39) probably benign Het
Itgb3 A G 11: 104,557,966 (GRCm39) T787A possibly damaging Het
Jakmip2 T G 18: 43,685,210 (GRCm39) probably benign Het
Krt4 T G 15: 101,831,187 (GRCm39) probably benign Het
Lgsn C T 1: 31,229,534 (GRCm39) T85I probably benign Het
Metap1 C T 3: 138,177,918 (GRCm39) V217I probably benign Het
Mib2 A T 4: 155,743,897 (GRCm39) C48* probably null Het
Mroh4 T A 15: 74,482,154 (GRCm39) I768F probably damaging Het
Npas3 T A 12: 54,095,624 (GRCm39) D361E probably damaging Het
Obscn A G 11: 58,943,411 (GRCm39) L4246P probably damaging Het
Or4a78 A C 2: 89,497,798 (GRCm39) V144G probably benign Het
Or7e169 A G 9: 19,757,075 (GRCm39) M280T probably benign Het
Or8h7 A G 2: 86,720,835 (GRCm39) I228T probably damaging Het
P4hb G A 11: 120,459,092 (GRCm39) R134C probably damaging Het
Plcb3 T C 19: 6,943,788 (GRCm39) D71G probably damaging Het
Prex2 T A 1: 11,150,305 (GRCm39) V159E probably damaging Het
Prpsap1 T A 11: 116,370,482 (GRCm39) K158N probably benign Het
Prr35 C A 17: 26,166,956 (GRCm39) E194* probably null Het
Ptger1 G T 8: 84,394,795 (GRCm39) V91L probably benign Het
Rdh10 T C 1: 16,178,260 (GRCm39) probably benign Het
Rgs9bp C A 7: 35,284,458 (GRCm39) R63L probably damaging Het
Slc13a5 A T 11: 72,149,940 (GRCm39) V173E probably benign Het
Spata31 A T 13: 65,070,377 (GRCm39) I842L probably benign Het
Stk32b A C 5: 37,874,092 (GRCm39) D13E probably benign Het
Svep1 T C 4: 58,123,192 (GRCm39) D708G possibly damaging Het
Taar6 T C 10: 23,861,021 (GRCm39) D175G probably benign Het
Thbs1 A C 2: 117,953,358 (GRCm39) D925A probably damaging Het
Tnr A T 1: 159,714,595 (GRCm39) T825S probably benign Het
Ttc23l A C 15: 10,551,627 (GRCm39) L33W probably damaging Het
Ttc39d T C 17: 80,523,379 (GRCm39) Y13H probably benign Het
Vmn2r102 C A 17: 19,880,851 (GRCm39) P64Q probably damaging Het
Vps11 G T 9: 44,267,588 (GRCm39) Y341* probably null Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwce C T 19: 10,624,177 (GRCm39) A356V probably benign Het
Other mutations in Inhbc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Inhbc APN 10 127,205,968 (GRCm39) missense probably damaging 1.00
IGL02114:Inhbc APN 10 127,205,971 (GRCm39) missense probably benign 0.00
LCD18:Inhbc UTSW 10 127,367,140 (GRCm38) intron probably benign
R0760:Inhbc UTSW 10 127,193,237 (GRCm39) missense probably damaging 1.00
R1339:Inhbc UTSW 10 127,193,510 (GRCm39) missense probably benign
R1754:Inhbc UTSW 10 127,206,162 (GRCm39) missense possibly damaging 0.84
R1867:Inhbc UTSW 10 127,193,416 (GRCm39) missense probably benign 0.01
R2902:Inhbc UTSW 10 127,193,621 (GRCm39) missense probably benign
R4622:Inhbc UTSW 10 127,193,146 (GRCm39) missense probably benign 0.26
R5128:Inhbc UTSW 10 127,193,611 (GRCm39) missense probably benign 0.12
R5285:Inhbc UTSW 10 127,193,269 (GRCm39) missense probably damaging 1.00
R5423:Inhbc UTSW 10 127,193,296 (GRCm39) missense probably damaging 1.00
R5807:Inhbc UTSW 10 127,193,411 (GRCm39) nonsense probably null
R5815:Inhbc UTSW 10 127,193,318 (GRCm39) missense probably benign 0.01
R6483:Inhbc UTSW 10 127,193,309 (GRCm39) nonsense probably null
R7423:Inhbc UTSW 10 127,193,275 (GRCm39) missense probably damaging 1.00
R8285:Inhbc UTSW 10 127,206,010 (GRCm39) missense probably benign
R8778:Inhbc UTSW 10 127,193,693 (GRCm39) missense probably damaging 1.00
R8859:Inhbc UTSW 10 127,192,984 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGGAAGGCCATTCTACCTCAGG -3'
(R):5'- TGACAAGTCAGTACGTGGTGCAG -3'

Sequencing Primer
(F):5'- GCTTTGAGCAGATTCAGCAC -3'
(R):5'- TGCAGGTGAATGCCAGTG -3'
Posted On 2013-07-30