Incidental Mutation 'R2902:Inhbc'
ID 261515
Institutional Source Beutler Lab
Gene Symbol Inhbc
Ensembl Gene ENSMUSG00000025405
Gene Name inhibin beta-C
Synonyms activin beta-C
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2902 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127192191-127206300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127193621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 132 (T132A)
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: T132A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: T132A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apobec2 T C 17: 48,730,409 (GRCm39) T86A probably benign Het
C1qtnf1 A G 11: 118,338,930 (GRCm39) probably null Het
Cacng3 A G 7: 122,353,750 (GRCm39) K78R possibly damaging Het
Cep68 A G 11: 20,190,187 (GRCm39) L275P probably damaging Het
Chrm4 A G 2: 91,758,302 (GRCm39) K237E probably benign Het
Clvs1 A G 4: 9,281,972 (GRCm39) K139E probably damaging Het
Col25a1 A T 3: 130,340,040 (GRCm39) E351V probably damaging Het
Cyp4f18 A T 8: 72,756,255 (GRCm39) I107N probably damaging Het
Dagla A G 19: 10,225,467 (GRCm39) L899P probably damaging Het
Dnah3 T C 7: 119,550,722 (GRCm39) K3199R possibly damaging Het
Ecpas G A 4: 58,809,691 (GRCm39) T1592M probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Fam186a G T 15: 99,843,049 (GRCm39) T1065K possibly damaging Het
Ferd3l T G 12: 33,978,952 (GRCm39) M155R probably damaging Het
Fgd4 A G 16: 16,243,729 (GRCm39) Y602H probably damaging Het
Gldn T C 9: 54,243,098 (GRCm39) L360P possibly damaging Het
Gm9920 C A 15: 54,975,867 (GRCm39) probably benign Het
Krt23 T C 11: 99,374,797 (GRCm39) D260G probably damaging Het
Lrch3 G A 16: 32,770,766 (GRCm39) A123T probably damaging Het
Mark2 A T 19: 7,260,813 (GRCm39) S408T probably benign Het
Nme8 A T 13: 19,859,834 (GRCm39) V23E probably benign Het
Nod2 A T 8: 89,402,091 (GRCm39) I912F probably damaging Het
Nxpe4 A G 9: 48,305,446 (GRCm39) I279V probably benign Het
Oas3 A G 5: 120,896,982 (GRCm39) F880L probably damaging Het
Or5ak23 C T 2: 85,244,396 (GRCm39) V276M possibly damaging Het
Or6c6c A G 10: 129,541,320 (GRCm39) H191R probably benign Het
Or8c11 T A 9: 38,289,337 (GRCm39) N53K possibly damaging Het
Pcnt C T 10: 76,211,064 (GRCm39) R2371H probably damaging Het
Prex2 A T 1: 11,278,838 (GRCm39) N1389I possibly damaging Het
Prf1 A T 10: 61,136,098 (GRCm39) N125Y probably damaging Het
Prr12 C T 7: 44,697,036 (GRCm39) G960R unknown Het
Rap1b A G 10: 117,660,507 (GRCm39) S17P probably damaging Het
Rhot2 G T 17: 26,062,950 (GRCm39) Q63K probably damaging Het
Rnpepl1 C T 1: 92,844,102 (GRCm39) L278F probably damaging Het
Slco1a6 A G 6: 142,042,046 (GRCm39) L510P probably damaging Het
Ssc4d G A 5: 135,993,517 (GRCm39) P113L possibly damaging Het
Sv2a A T 3: 96,101,072 (GRCm39) N690I possibly damaging Het
Tbc1d24 T C 17: 24,426,220 (GRCm39) Y452C probably benign Het
Tmem132d G T 5: 127,860,832 (GRCm39) H1096Q probably benign Het
Tmem82 C A 4: 141,343,775 (GRCm39) G165V probably benign Het
Tpo T A 12: 30,169,448 (GRCm39) T96S possibly damaging Het
Triobp A G 15: 78,857,618 (GRCm39) E1073G possibly damaging Het
Tspoap1 C T 11: 87,668,801 (GRCm39) P1358L probably benign Het
Usp47 A G 7: 111,692,658 (GRCm39) Y1020C probably damaging Het
Washc4 C A 10: 83,390,627 (GRCm39) Y153* probably null 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
R0042:Inhbc UTSW 10 127,193,302 (GRCm39) missense probably benign 0.17
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
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'- TCCAGAGTAAGGTGTCCCTG -3'
(R):5'- CACATGTCTGTGTGCATCTG -3'

Sequencing Primer
(F):5'- TAAGGTGTCCCTGGCTGCAAG -3'
(R):5'- GGACCATCAGTTCAAGGTTGTCC -3'
Posted On 2015-01-23