Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02114:Inhbc'

280303

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02114

Quality Score

Status

Chromosome

Chromosomal Location

127192191-127206300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127205971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 99 (I99V)

Ref Sequence

ENSEMBL: ENSMUSP00000026472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026472]

AlphaFold

P55104

Predicted Effect

probably benign
Transcript: ENSMUST00000026472
AA Change: I99V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: I99V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TGFB	247	352	7.32e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219640

Coding Region Coverage

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700084J12Rik	C	A	15: 33,405,844 (GRCm39)		probably benign	Het
Akap3	T	C	6: 126,842,959 (GRCm39)	V526A	probably damaging	Het
Ano6	C	A	15: 95,841,341 (GRCm39)	S479R	probably damaging	Het
Aqp8	C	A	7: 123,063,419 (GRCm39)	H90N	probably damaging	Het
Arih1	A	T	9: 59,333,452 (GRCm39)	C229S	probably damaging	Het
Col6a6	C	A	9: 105,644,398 (GRCm39)		probably null	Het
Cp	A	G	3: 20,020,511 (GRCm39)	E168G	probably benign	Het
Creb5	C	T	6: 53,581,443 (GRCm39)		probably benign	Het
Cstdc3	T	A	16: 36,131,617 (GRCm39)	Y42*	probably null	Het
Cyp2c66	C	A	19: 39,159,519 (GRCm39)		probably benign	Het
Dcpp2	C	A	17: 24,119,609 (GRCm39)	A141D	possibly damaging	Het
Dnah5	A	G	15: 28,397,270 (GRCm39)	D3321G	probably damaging	Het
Ecsit	T	C	9: 21,989,440 (GRCm39)		probably benign	Het
Gabra1	T	C	11: 42,026,402 (GRCm39)	I297V	probably damaging	Het
Gja8	T	C	3: 96,827,341 (GRCm39)	K107R	probably benign	Het
Gm16686	A	T	4: 88,673,739 (GRCm39)	L30Q	probably null	Het
Hbp1	T	C	12: 31,980,674 (GRCm39)		probably benign	Het
Kcne3	T	A	7: 99,833,697 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,947,881 (GRCm39)	Y926H	probably damaging	Het
Lhfpl5	G	T	17: 28,795,149 (GRCm39)	A59S	possibly damaging	Het
Mov10	T	A	3: 104,702,634 (GRCm39)		probably benign	Het
Myl12b	A	T	17: 71,284,164 (GRCm39)	N21K	possibly damaging	Het
Ncoa7	A	T	10: 30,538,360 (GRCm39)	V675E	probably damaging	Het
Nt5c1b	T	C	12: 10,425,444 (GRCm39)	I255T	probably damaging	Het
Numa1	T	A	7: 101,661,083 (GRCm39)		probably benign	Het
Or13c3	T	A	4: 52,856,144 (GRCm39)	Y123F	probably damaging	Het
Otop2	A	T	11: 115,217,806 (GRCm39)	D214V	possibly damaging	Het
Plec	C	A	15: 76,057,748 (GRCm39)	G3928V	probably damaging	Het
Prkcz	T	C	4: 155,356,047 (GRCm39)	E176G	probably damaging	Het
Qdpr	G	A	5: 45,592,018 (GRCm39)	T106I	possibly damaging	Het
R3hdm2	T	G	10: 127,319,978 (GRCm39)	M481R	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Skic2	C	T	17: 35,060,092 (GRCm39)	V145M	probably damaging	Het
Slx4ip	T	A	2: 136,842,120 (GRCm39)	V15D	probably damaging	Het
Stat4	T	C	1: 52,142,024 (GRCm39)	S624P	probably damaging	Het
Tecpr2	T	A	12: 110,935,321 (GRCm39)	L1380Q	probably damaging	Het
Traf2	T	C	2: 25,415,004 (GRCm39)	I286V	possibly damaging	Het
Vmn2r30	T	C	7: 7,340,408 (GRCm39)	I29V	possibly damaging	Het
Wdr43	A	G	17: 71,959,843 (GRCm39)	Q561R	probably benign	Het
Zfp607b	T	A	7: 27,403,150 (GRCm39)	F535L	probably benign	Het

Other mutations in Inhbc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:Inhbc	APN	10	127,205,968 (GRCm39)	missense	probably damaging	1.00
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
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

Posted On

2015-04-16