Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01403:Inhbc'

79718

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 #

IGL01403

Quality Score

Status

Chromosome

Chromosomal Location

127192191-127206300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127205968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 100 (I100F)

Ref Sequence

ENSEMBL: ENSMUSP00000026472 (fasta)

Gene Model

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

AlphaFold

P55104

Predicted Effect

probably damaging
Transcript: ENSMUST00000026472
AA Change: I100F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: I100F

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,836,602 (GRCm39)	L1103Q	probably damaging	Het
Adam12	T	A	7: 133,521,339 (GRCm39)	Q605L	probably benign	Het
Adk	A	G	14: 21,284,983 (GRCm39)	K102R	probably damaging	Het
Afdn	C	T	17: 14,124,132 (GRCm39)	P1761S	probably damaging	Het
Ascc1	A	G	10: 59,848,280 (GRCm39)		probably benign	Het
Aspdh	A	G	7: 44,115,983 (GRCm39)		probably null	Het
Bbx	T	C	16: 50,022,876 (GRCm39)	I753V	probably benign	Het
Ccdc33	T	C	9: 58,024,668 (GRCm39)	Y186C	probably damaging	Het
Ccdc78	T	A	17: 26,007,218 (GRCm39)		probably null	Het
Ckmt1	T	C	2: 121,193,447 (GRCm39)		probably benign	Het
Csf1r	A	G	18: 61,247,897 (GRCm39)	T322A	probably benign	Het
Dnah7b	T	C	1: 46,155,460 (GRCm39)		probably benign	Het
Dr1	A	G	5: 108,417,576 (GRCm39)	N41D	possibly damaging	Het
Ehmt1	G	A	2: 24,729,638 (GRCm39)	T633I	possibly damaging	Het
Fgf7	T	A	2: 125,877,860 (GRCm39)	Y76N	probably damaging	Het
Hmcn1	A	T	1: 150,468,848 (GRCm39)	W5038R	probably damaging	Het
Ighv14-1	A	G	12: 113,895,862 (GRCm39)	V21A	probably damaging	Het
Igkv5-37	T	A	6: 69,940,420 (GRCm39)	I75F	probably damaging	Het
Irs3	A	G	5: 137,643,581 (GRCm39)	F68L	probably damaging	Het
Itpr3	T	A	17: 27,337,569 (GRCm39)	C2460S	probably damaging	Het
Krt34	A	G	11: 99,929,116 (GRCm39)	C365R	possibly damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ly6g	A	G	15: 75,030,497 (GRCm39)	N82S	probably damaging	Het
Mrpl58	A	T	11: 115,297,404 (GRCm39)	I72F	probably damaging	Het
Myo9a	G	A	9: 59,778,846 (GRCm39)	R1534H	probably damaging	Het
Npat	T	A	9: 53,466,429 (GRCm39)	F239L	probably benign	Het
Nsd2	A	G	5: 34,042,722 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,860,635 (GRCm39)	V427A	probably benign	Het
Or52b1	G	A	7: 104,978,605 (GRCm39)	R265C	probably benign	Het
Or5p55	A	G	7: 107,566,828 (GRCm39)	T75A	possibly damaging	Het
Pde4a	A	T	9: 21,116,412 (GRCm39)	I467F	probably damaging	Het
Pkhd1l1	T	A	15: 44,347,229 (GRCm39)	C198*	probably null	Het
Pla2r1	A	G	2: 60,254,632 (GRCm39)	V1312A	probably damaging	Het
Pola2	T	C	19: 6,009,121 (GRCm39)	H79R	probably benign	Het
Potefam1	T	C	2: 111,059,515 (GRCm39)		probably benign	Het
Pramel15	A	T	4: 144,103,703 (GRCm39)	M141K	probably benign	Het
Psen2	A	T	1: 180,062,548 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,334,126 (GRCm39)	K3112E	probably damaging	Het
Slc6a4	G	T	11: 76,922,498 (GRCm39)	V630L	probably benign	Het
Smg1	A	T	7: 117,757,355 (GRCm39)		probably benign	Het
Tmc8	A	G	11: 117,681,900 (GRCm39)	T510A	possibly damaging	Het
Usp18	T	A	6: 121,245,627 (GRCm39)	H334Q	possibly damaging	Het
Vmn2r103	T	C	17: 20,013,229 (GRCm39)	Y117H	probably benign	Het
Vps13b	T	A	15: 35,709,625 (GRCm39)	D1857E	probably benign	Het

Other mutations in Inhbc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-11-05