Incidental Mutation 'R5815:Inhbc'
ID 449004
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 # R5815 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127192191-127206300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127193318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 233 (V233I)
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: V233I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: V233I

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid A G 11: 117,726,530 (GRCm39) D226G probably benign Het
Ago2 T C 15: 72,979,215 (GRCm39) probably null Het
Aldh1a1 C A 19: 20,608,034 (GRCm39) D285E probably benign Het
Alms1 T C 6: 85,599,820 (GRCm39) S1549P probably damaging Het
Apmap T C 2: 150,442,171 (GRCm39) S68G probably benign Het
Atp8a1 A T 5: 67,906,414 (GRCm39) I500N probably benign Het
B3gnt7 A C 1: 86,233,510 (GRCm39) D135A probably benign Het
Bms1 A T 6: 118,381,240 (GRCm39) L692H probably damaging Het
Cdk17 T A 10: 93,064,559 (GRCm39) V276E probably damaging Het
Cep290 A T 10: 100,393,970 (GRCm39) E2059V possibly damaging Het
Cpxm2 C A 7: 131,645,839 (GRCm39) G693V probably damaging Het
Crocc A T 4: 140,762,507 (GRCm39) V661E probably damaging Het
D1Pas1 A T 1: 186,700,206 (GRCm39) N45I probably damaging Het
Ddx19a C T 8: 111,705,781 (GRCm39) W223* probably null Het
Ddx60 C A 8: 62,416,756 (GRCm39) S567Y probably damaging Het
Dhx36 A T 3: 62,401,176 (GRCm39) N363K probably damaging Het
Gm57859 C A 11: 113,578,783 (GRCm39) probably null Het
Gpr151 G A 18: 42,712,450 (GRCm39) T76M probably benign Het
Ippk C T 13: 49,599,839 (GRCm39) L233F probably damaging Het
Lama2 A G 10: 26,862,847 (GRCm39) V2972A probably damaging Het
Lrrc37a T C 11: 103,394,612 (GRCm39) Q271R probably benign Het
Mia2 A T 12: 59,220,892 (GRCm39) K1083N possibly damaging Het
Mphosph9 A C 5: 124,453,481 (GRCm39) L277R probably damaging Het
Myo7b A T 18: 32,099,341 (GRCm39) F1694I probably damaging Het
Obscn T C 11: 58,973,015 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2w6 T C 13: 21,842,707 (GRCm39) Y262C probably damaging Het
Pcdh10 A G 3: 45,347,156 (GRCm39) T984A probably benign Het
Pcdh20 T C 14: 88,708,312 (GRCm39) S39G probably benign Het
Pdia3 T A 2: 121,266,892 (GRCm39) Y467* probably null Het
Ptpn13 C A 5: 103,745,556 (GRCm39) probably null Het
Reln A G 5: 22,152,431 (GRCm39) M2345T probably damaging Het
Rnf126 A T 10: 79,602,603 (GRCm39) I20N probably benign Het
Satb1 A G 17: 52,089,981 (GRCm39) S289P possibly damaging Het
Scd4 A T 19: 44,326,003 (GRCm39) H119L probably damaging Het
Sco2 T C 15: 89,256,574 (GRCm39) T27A probably benign Het
Slc39a14 A T 14: 70,544,194 (GRCm39) I464N probably damaging Het
Slc4a8 T A 15: 100,686,092 (GRCm39) V220E probably benign Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Tmf1 T A 6: 97,150,364 (GRCm39) T448S probably benign Het
Tspan33 G A 6: 29,710,688 (GRCm39) R87Q probably damaging Het
Vmn2r91 A T 17: 18,326,464 (GRCm39) M250L probably benign Het
Zc3h7a A T 16: 10,974,050 (GRCm39) V245D probably damaging 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
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
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'- GCTTTGAGCAGATTCAGCACTG -3'
(R):5'- AAGTCAGTACGTGGTGCAGG -3'

Sequencing Primer
(F):5'- CACTGCAGTGTGAAAGGAGGC -3'
(R):5'- TGCAGGTGAATGCCAGTG -3'
Posted On 2016-12-20