Mutagenetix > Incidental Mutation

Incidental Mutation 'R7328:Inha'

569027

Institutional Source

Beutler Lab

Gene Symbol

Inha

Ensembl Gene

ENSMUSG00000032968

Gene Name

inhibin alpha

Synonyms

MMRRC Submission

045421-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75483721-75487010 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75486760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 352 (Y352H)

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: Y352H

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

SMART Domains

Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968
AA Change: Y352H

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

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	G	11: 72,060,606 (GRCm39)		probably null	Het
Abca13	T	A	11: 9,241,545 (GRCm39)	V1136E	probably benign	Het
Arl4c	C	A	1: 88,629,239 (GRCm39)	E50*	probably null	Het
Atxn7l1	T	C	12: 33,198,502 (GRCm39)		probably null	Het
Ctdsp1	A	T	1: 74,433,199 (GRCm39)	I115F	probably damaging	Het
Cyp2j5	A	G	4: 96,551,450 (GRCm39)	V91A	probably damaging	Het
Dscam	T	A	16: 96,446,235 (GRCm39)	K1469*	probably null	Het
Elf2	A	G	3: 51,174,198 (GRCm39)	C110R	probably damaging	Het
Ephb1	A	G	9: 102,072,438 (GRCm39)	Y114H	probably damaging	Het
Ephb2	C	T	4: 136,386,245 (GRCm39)		probably null	Het
Fbxw20	C	A	9: 109,061,383 (GRCm39)	C122F	probably damaging	Het
Flnb	T	C	14: 7,883,788 (GRCm38)	I338T	possibly damaging	Het
Flnb	T	A	14: 7,894,660 (GRCm38)	Y819*	probably null	Het
Foxo3	A	T	10: 42,073,258 (GRCm39)	S420T	probably benign	Het
Herpud1	T	C	8: 95,113,248 (GRCm39)	V10A	possibly damaging	Het
Hmcn1	A	T	1: 150,514,617 (GRCm39)	V3585E	possibly damaging	Het
Hsdl1	T	C	8: 120,292,830 (GRCm39)	T202A	probably benign	Het
Htr1d	G	A	4: 136,170,614 (GRCm39)	S281N	probably benign	Het
Igkv14-111	T	A	6: 68,233,709 (GRCm39)	I70N	probably damaging	Het
Igkv8-34	A	G	6: 70,021,328 (GRCm39)	S45P	probably damaging	Het
Lats1	A	T	10: 7,581,311 (GRCm39)	M699L	possibly damaging	Het
Marchf9	T	C	10: 126,894,165 (GRCm39)	E146G	probably damaging	Het
Mcm8	T	C	2: 132,674,777 (GRCm39)	V443A	probably benign	Het
Melk	A	T	4: 44,332,931 (GRCm39)	S296C	probably benign	Het
Myo18a	T	C	11: 77,698,737 (GRCm39)	S4P		Het
Myof	T	C	19: 37,904,847 (GRCm39)	Y1646C	probably damaging	Het
Noc4l	C	A	5: 110,796,789 (GRCm39)	A498S	possibly damaging	Het
Nrxn3	T	C	12: 88,762,345 (GRCm39)	S131P	probably benign	Het
Or5ae2	T	C	7: 84,506,507 (GRCm39)	I312T	probably benign	Het
Or5ak23	A	G	2: 85,244,668 (GRCm39)	I185T	probably benign	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or8g23	T	C	9: 38,971,857 (GRCm39)	Y35C	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Phldb2	T	A	16: 45,578,572 (GRCm39)		probably null	Het
Polr2b	C	T	5: 77,463,846 (GRCm39)	P81L	probably damaging	Het
Rbfa	C	A	18: 80,236,454 (GRCm39)	G215C	probably benign	Het
Rdh19	T	C	10: 127,692,896 (GRCm39)	S188P	probably damaging	Het
Scn9a	T	C	2: 66,314,931 (GRCm39)	M1596V	probably benign	Het
Sele	A	T	1: 163,876,844 (GRCm39)	Y40F	probably benign	Het
Setd1b	T	A	5: 123,290,442 (GRCm39)	V803D	unknown	Het
Siglecf	C	T	7: 43,001,691 (GRCm39)	T167I	possibly damaging	Het
Slc39a6	T	C	18: 24,733,987 (GRCm39)	E234G	probably benign	Het
Slco1a1	T	A	6: 141,882,134 (GRCm39)	D145V	possibly damaging	Het
Son	G	A	16: 91,455,278 (GRCm39)	V1342I	probably benign	Het
Sybu	G	A	15: 44,651,190 (GRCm39)	P38L	not run	Het
Taf15	C	T	11: 83,375,658 (GRCm39)	T41M	possibly damaging	Het
Tm4sf4	A	T	3: 57,333,925 (GRCm39)	N71Y	probably benign	Het
Tm7sf2	C	T	19: 6,114,156 (GRCm39)	V226I	possibly damaging	Het
Trim66	C	A	7: 109,056,958 (GRCm39)	Q1066H	probably damaging	Het
Tyw1	T	C	5: 130,291,685 (GRCm39)	V51A	probably benign	Het
Vav3	A	T	3: 109,410,744 (GRCm39)	I192L	probably benign	Het

Other mutations in Inha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01318:Inha	APN	1	75,486,572 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTACTGCCATGGTAGCTGC -3'
(R):5'- ATTGTTATCCACAGGACCTGG -3'

Sequencing Primer
(F):5'- CCATGGTAGCTGCGGGATG -3'
(R):5'- TCCCTCATACTGAAAGATGTAGGG -3'

Posted On

2019-09-13