Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01318:Inha'

73930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Inha

Ensembl Gene

ENSMUSG00000032968

Gene Name

inhibin alpha

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01318

Quality Score

Status

Chromosome

Chromosomal Location

75483721-75487010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75486572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 289 (F289C)

Ref Sequence

ENSEMBL: ENSMUSP00000040310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037330] [ENSMUST00000113565] [ENSMUST00000113567]

AlphaFold

Q04997

Predicted Effect

probably damaging
Transcript: ENSMUST00000037330
AA Change: F289C

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

SMART Domains

Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968
AA Change: F289C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	189	199	N/A	INTRINSIC
TGFB	263	366	1.58e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113565

SMART Domains

Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	5e-57	PDB
Blast:IG_like	622	711	2e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113567

SMART Domains

Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
IGc2	24	91	1.23e-12	SMART
IGc2	140	216	2.33e-13	SMART
IGc2	258	326	1.48e-6	SMART
IG	347	427	9.49e-5	SMART
IG	435	511	1.04e-1	SMART
FN3	518	601	6.6e-2	SMART
PDB:2E6Q\|A	608	714	8e-57	PDB
Blast:IG_like	622	711	3e-50	BLAST
IG	723	804	3.79e-4	SMART
IG	814	893	2.58e-6	SMART
IGc2	911	977	1.12e-6	SMART
IG	996	1075	1.27e-5	SMART
IGc2	1094	1160	4.07e-4	SMART
IGc2	1186	1252	9.49e-5	SMART
IG	1274	1353	7.41e-7	SMART
IG	1363	1444	1.15e-3	SMART
IG	1454	1533	8.33e-1	SMART
IGc2	1549	1615	8.72e-4	SMART
IG	1633	1712	1e-3	SMART
IG	1723	1802	3.82e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145306

Predicted Effect

probably benign
Transcript: ENSMUST00000155084

SMART Domains

Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211

Domain	Start	End	E-Value	Type
SCOP:d1g1ca_	2	32	1e-3	SMART
IGc2	64	132	1.48e-6	SMART
IG	153	233	9.49e-5	SMART
IG	241	317	1.04e-1	SMART
FN3	324	407	6.6e-2	SMART
PDB:2E6Q\|A	414	520	4e-57	PDB
Blast:IG_like	428	517	2e-50	BLAST
IG	529	610	3.79e-4	SMART
IG	620	699	2.58e-6	SMART
IGc2	717	783	1.12e-6	SMART
IG	802	881	1.27e-5	SMART
IGc2	900	966	4.07e-4	SMART
IGc2	992	1058	9.49e-5	SMART
IG	1080	1159	7.41e-7	SMART

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 multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mice in which this gene has been ablated exhibit sex cord-stromal tumors and symptoms that mimic the human cancer cachexia syndrome. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mutant mice develop gonadal sex cord-stromal tumors with nearly 100% penetrance and develop cachexia-like symptoms. The wasting syndrome is not observed in gonadectomized mutant mice, which develop adrenal tumors. [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
Alg10b	T	C	15: 90,112,592 (GRCm39)		probably benign	Het
Ambn	T	C	5: 88,608,554 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,297,296 (GRCm39)	D585G	probably null	Het
Chaf1a	G	T	17: 56,366,336 (GRCm39)		probably benign	Het
Ddhd1	A	G	14: 45,854,008 (GRCm39)	S443P	probably damaging	Het
Dlk2	A	G	17: 46,613,390 (GRCm39)	E215G	probably damaging	Het
Efhd2	T	C	4: 141,587,176 (GRCm39)	N202S	probably benign	Het
Gkap1	A	T	13: 58,384,853 (GRCm39)	I308K	probably damaging	Het
Gm9848	T	A	13: 113,244,774 (GRCm39)		noncoding transcript	Het
Hmcn1	G	A	1: 150,594,991 (GRCm39)	T1826I	probably damaging	Het
Htr5a	T	C	5: 28,047,742 (GRCm39)	V99A	probably benign	Het
Kcna3	T	C	3: 106,945,294 (GRCm39)	V519A	probably benign	Het
Kcnma1	A	T	14: 23,364,390 (GRCm39)		probably benign	Het
Kctd1	A	G	18: 15,195,747 (GRCm39)	V292A	possibly damaging	Het
Magea13	T	A	X: 57,964,829 (GRCm39)	I196N	probably damaging	Het
Map2k4	A	G	11: 65,647,089 (GRCm39)		probably benign	Het
Mfap2	G	T	4: 140,742,856 (GRCm39)	A175S	possibly damaging	Het
Milr1	G	A	11: 106,656,071 (GRCm39)	A114T	possibly damaging	Het
Mogs	G	T	6: 83,095,558 (GRCm39)	V792F	probably damaging	Het
Nt5dc3	T	A	10: 86,661,089 (GRCm39)	M418K	possibly damaging	Het
Or5b12	A	G	19: 12,897,490 (GRCm39)	L61P	probably damaging	Het
Or7d10	A	G	9: 19,832,054 (GRCm39)	E183G	probably benign	Het
Or8h8	A	T	2: 86,753,293 (GRCm39)	N194K	probably benign	Het
Osbpl10	G	A	9: 115,061,190 (GRCm39)	W756*	probably null	Het
Pgam5	A	G	5: 110,413,391 (GRCm39)	Y235H	probably damaging	Het
Pgm5	G	T	19: 24,793,842 (GRCm39)	A274E	probably damaging	Het
Prex1	C	A	2: 166,411,260 (GRCm39)		probably benign	Het
Prps1l1	A	T	12: 35,035,377 (GRCm39)	N164I	probably benign	Het
Ralbp1	C	A	17: 66,171,277 (GRCm39)	R232L	probably damaging	Het
Rnaseh2a	C	T	8: 85,691,752 (GRCm39)		probably benign	Het
Stard9	A	T	2: 120,529,200 (GRCm39)	H1819L	possibly damaging	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Tasor2	A	C	13: 3,625,067 (GRCm39)	S946A	possibly damaging	Het
Tph1	T	G	7: 46,314,662 (GRCm39)	T22P	probably damaging	Het
Uqcrfs1	A	G	13: 30,724,904 (GRCm39)	I212T	probably benign	Het
Ush2a	T	C	1: 188,546,550 (GRCm39)	I3442T	probably benign	Het
Vinac1	C	A	2: 128,880,622 (GRCm39)	V435L	probably benign	Het
Vmn2r113	A	G	17: 23,177,309 (GRCm39)	I698V	probably benign	Het
Vmn2r75	T	C	7: 85,814,774 (GRCm39)	I240V	probably benign	Het
Wdr17	T	C	8: 55,125,585 (GRCm39)	T432A	probably damaging	Het

Other mutations in Inha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02698:Inha	APN	1	75,486,527 (GRCm39)	missense	probably damaging	1.00
IGL02728:Inha	APN	1	75,486,091 (GRCm39)	missense	probably damaging	0.99
R4555:Inha	UTSW	1	75,486,227 (GRCm39)	missense	possibly damaging	0.86
R7328:Inha	UTSW	1	75,486,760 (GRCm39)	missense	probably damaging	1.00
R9155:Inha	UTSW	1	75,486,133 (GRCm39)	missense	probably benign	0.00
R9161:Inha	UTSW	1	75,484,144 (GRCm39)	missense	probably damaging	1.00
R9478:Inha	UTSW	1	75,486,562 (GRCm39)	missense	probably benign	0.45
R9616:Inha	UTSW	1	75,486,211 (GRCm39)	missense	probably benign

Posted On

2013-10-07