Incidental Mutation 'R5128:Inhbc'
ID 394868
Institutional Source Beutler Lab
Gene Symbol Inhbc
Ensembl Gene ENSMUSG00000025405
Gene Name inhibin beta-C
Synonyms activin beta-C
MMRRC Submission 042716-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5128 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127192191-127206300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 127193611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 135 (M135K)
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: M135K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: M135K

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 0.3489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (48/48)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,639,070 (GRCm39) S958P probably benign Het
Ahnak T C 19: 8,994,451 (GRCm39) L5245P probably damaging Het
Alg5 T A 3: 54,649,558 (GRCm39) probably null Het
Anapc1 A G 2: 128,501,837 (GRCm39) V735A probably benign Het
Arhgap45 A G 10: 79,866,793 (GRCm39) T1099A probably benign Het
Cacna1e A C 1: 154,277,767 (GRCm39) S2062A probably damaging Het
Chrna9 A G 5: 66,128,565 (GRCm39) S258G probably benign Het
Ctcfl T C 2: 172,959,189 (GRCm39) E179G probably benign Het
Dcdc2a C A 13: 25,286,512 (GRCm39) A145E probably damaging Het
Dgkz A G 2: 91,773,028 (GRCm39) I343T probably damaging Het
Dnah1 T C 14: 31,018,152 (GRCm39) probably null Het
Dqx1 T C 6: 83,037,548 (GRCm39) L374P probably damaging Het
Entpd5 A T 12: 84,441,464 (GRCm39) F101L probably benign Het
Esco1 A T 18: 10,567,468 (GRCm39) probably benign Het
Fgf1 C A 18: 38,975,078 (GRCm39) V124L probably benign Het
Gm16380 C T 9: 53,791,397 (GRCm39) noncoding transcript Het
Grid2 G A 6: 64,642,982 (GRCm39) A915T probably benign Het
Mertk C A 2: 128,580,167 (GRCm39) T207K probably damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Mtmr10 C T 7: 63,983,187 (GRCm39) T498I probably damaging Het
Muc17 A G 5: 137,167,034 (GRCm39) probably null Het
Nlrp1c-ps G T 11: 71,170,421 (GRCm39) noncoding transcript Het
Nphp4 T A 4: 152,587,448 (GRCm39) I267N probably benign Het
Obox8 A G 7: 14,066,015 (GRCm39) W168R probably damaging Het
Or2t48 A T 11: 58,420,248 (GRCm39) V188E probably damaging Het
Or4a74 A T 2: 89,439,647 (GRCm39) D266E probably damaging Het
Or8c8 T C 9: 38,164,866 (GRCm39) L48P probably damaging Het
Pafah1b1 A G 11: 74,570,262 (GRCm39) probably benign Het
Palld T C 8: 62,173,622 (GRCm39) T346A probably damaging Het
Pip4k2b A G 11: 97,609,702 (GRCm39) S412P probably benign Het
Potefam1 G A 2: 110,994,674 (GRCm39) Q251* probably null Het
Scn3a T C 2: 65,338,862 (GRCm39) S606G probably benign Het
Slc12a7 G T 13: 73,953,552 (GRCm39) S754I probably benign Het
Tep1 A G 14: 51,081,736 (GRCm39) *489R probably null Het
Tnn A T 1: 159,950,464 (GRCm39) V714E probably damaging Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Ttc16 T A 2: 32,653,009 (GRCm39) I550F probably benign Het
Vit T C 17: 78,932,575 (GRCm39) S561P probably damaging Het
Zdhhc1 T A 8: 106,210,268 (GRCm39) I50F probably benign Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp597 G A 16: 3,689,988 (GRCm39) 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
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
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'- CAGGATCAAGGAACTGTGGG -3'
(R):5'- GGTATGCTGAGAACAGAGGC -3'

Sequencing Primer
(F):5'- TACCAGCTCCAGAGTAAGGTGTC -3'
(R):5'- AACAGAGGCGGCTGGTC -3'
Posted On 2016-06-21