Mutagenetix > Incidental Mutation

Incidental Mutation 'R0760:Inhbc'

70055

Institutional Source

Beutler Lab

Gene Symbol

Inhbc

Ensembl Gene

ENSMUSG00000025405

Gene Name

inhibin beta-C

Synonyms

activin beta-C

MMRRC Submission

038940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127192191-127206300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127193237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 260 (G260S)

Ref Sequence

ENSEMBL: ENSMUSP00000026472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026472] [ENSMUST00000059718]

AlphaFold

P55104

Predicted Effect

probably damaging
Transcript: ENSMUST00000026472
AA Change: G260S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: G260S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.6195

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.8%

Validation Efficiency

95% (39/41)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,324,661 (GRCm39)	V120A	possibly damaging	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Alcam	C	T	16: 52,116,035 (GRCm39)	V180M	probably benign	Het
Catip	A	G	1: 74,402,118 (GRCm39)		probably benign	Het
Ccm2l	A	C	2: 152,914,104 (GRCm39)	N298T	probably damaging	Het
Ccni	A	G	5: 93,331,188 (GRCm39)	V261A	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5d1	A	G	11: 69,285,999 (GRCm39)	F41L	probably benign	Het
Fbxw8	A	G	5: 118,203,966 (GRCm39)		probably null	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gpaa1	T	C	15: 76,216,119 (GRCm39)	I33T	probably benign	Het
Grip1	T	A	10: 119,853,983 (GRCm39)	S512T	probably damaging	Het
Gtpbp1	G	A	15: 79,603,356 (GRCm39)	G140E	probably damaging	Het
Hspa4l	T	A	3: 40,739,155 (GRCm39)	L681*	probably null	Het
Hspg2	A	G	4: 137,239,660 (GRCm39)	T456A	probably damaging	Het
Igkv3-1	A	T	6: 70,681,119 (GRCm39)	D106V	probably damaging	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Kif5c	T	C	2: 49,578,765 (GRCm39)	I131T	probably damaging	Het
Kmt2c	A	G	5: 25,558,315 (GRCm39)	Y1133H	possibly damaging	Het
Lama2	A	G	10: 26,920,429 (GRCm39)		probably null	Het
N4bp1	A	G	8: 87,573,540 (GRCm39)	Y744H	probably damaging	Het
Or14j7	C	T	17: 38,235,005 (GRCm39)	Q183*	probably null	Het
Or1n2	A	G	2: 36,797,233 (GRCm39)	S92G	probably benign	Het
Ovol2	A	G	2: 144,173,679 (GRCm39)		probably null	Het
Pappa2	C	A	1: 158,544,531 (GRCm39)		probably null	Het
Pcdh10	G	A	3: 45,335,005 (GRCm39)	E440K	probably benign	Het
Pcsk4	A	G	10: 80,161,775 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,915,802 (GRCm39)	N937S	possibly damaging	Het
Ppp6r1	A	G	7: 4,642,722 (GRCm39)	F541L	probably benign	Het
Rad54l2	A	G	9: 106,596,805 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,312,613 (GRCm39)	P1111L	possibly damaging	Het
Rasal3	A	G	17: 32,611,146 (GRCm39)	F929S	probably benign	Het
Rnf111	A	G	9: 70,336,960 (GRCm39)	V909A	probably damaging	Het
Rnf168	A	G	16: 32,117,204 (GRCm39)		probably null	Het
Slc2a5	T	C	4: 150,224,124 (GRCm39)	L244P	probably benign	Het
Snta1	T	A	2: 154,222,860 (GRCm39)	I288F	probably damaging	Het
Sv2a	G	A	3: 96,095,498 (GRCm39)	C297Y	probably damaging	Het
Trim44	C	T	2: 102,230,905 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,200,805 (GRCm39)	I1164N	possibly damaging	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
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
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'- CTGTCCCTGTCATAGTAGAGCAAAG -3'
(R):5'- TGAAGCTCAAGCTGCTTGC -3'

Posted On

2013-09-30