Mutagenetix > Incidental Mutation

Incidental Mutation 'R0591:Inhba'

55997

Institutional Source

Beutler Lab

Gene Symbol

Inhba

Ensembl Gene

ENSMUSG00000041324

Gene Name

inhibin beta-A

Synonyms

activin beta-A

MMRRC Submission

038781-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16186436-16206206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16201405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 322 (K322N)

Ref Sequence

ENSEMBL: ENSMUSP00000132085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042603] [ENSMUST00000164993]

AlphaFold

Q04998

Predicted Effect

probably damaging
Transcript: ENSMUST00000042603
AA Change: K322N

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

SMART Domains

Protein: ENSMUSP00000047894
Gene: ENSMUSG00000041324
AA Change: K322N

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TGFb_propeptide	37	294	9.5e-20	PFAM
TGFB	319	424	1.3e-58	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000164993
AA Change: K322N

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

SMART Domains

Protein: ENSMUSP00000132085
Gene: ENSMUSG00000041324
AA Change: K322N

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:TGFb_propeptide	45	293	3.8e-12	PFAM
TGFB	319	424	1.3e-58	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223477

Meta Mutation Damage Score

0.4034

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

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 the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Homozygous knockout mice for this gene lack whiskers and exhibit tooth and palate defects, leading to neonatal lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a targeted null mutation lack vibrissae and lower incisors, have defects in their secondary palates, and die shortly after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 137,774,704 (GRCm39)	E1298*	probably null	Het
Aadacl2fm2	C	A	3: 59,659,550 (GRCm39)	Y334*	probably null	Het
Adam19	T	C	11: 46,012,238 (GRCm39)		probably benign	Het
Agt	A	T	8: 125,283,678 (GRCm39)	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,461,252 (GRCm39)	D1769E	probably benign	Het
Aox4	T	C	1: 58,278,261 (GRCm39)		probably benign	Het
Apol9b	G	A	15: 77,619,830 (GRCm39)	V209I	possibly damaging	Het
Appl2	A	T	10: 83,460,509 (GRCm39)	I116K	possibly damaging	Het
BC051665	A	G	13: 60,932,422 (GRCm39)		probably benign	Het
Cactin	G	T	10: 81,159,837 (GRCm39)	E89*	probably null	Het
Carf	G	T	1: 60,165,073 (GRCm39)		probably benign	Het
Ccdc167	A	G	17: 29,924,235 (GRCm39)		probably benign	Het
Ceacam3	G	A	7: 16,885,808 (GRCm39)		probably null	Het
Clca4b	T	A	3: 144,621,353 (GRCm39)	K574*	probably null	Het
Crabp1	T	A	9: 54,672,887 (GRCm39)	I64N	probably damaging	Het
Dgkd	T	A	1: 87,842,826 (GRCm39)	I118N	probably damaging	Het
Dglucy	T	C	12: 100,825,777 (GRCm39)		probably benign	Het
Dock10	C	T	1: 80,518,936 (GRCm39)		probably benign	Het
Ednrb	A	T	14: 104,060,710 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,279,973 (GRCm39)		probably benign	Het
Golga3	A	C	5: 110,336,609 (GRCm39)	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,520,445 (GRCm39)	V159A	probably benign	Het
Heatr5a	A	T	12: 51,956,884 (GRCm39)		probably benign	Het
Helz2	A	G	2: 180,873,909 (GRCm39)	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,569,295 (GRCm39)	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 192,911,984 (GRCm39)		probably benign	Het
Iftap	A	T	2: 101,406,462 (GRCm39)	D155E	probably benign	Het
Katnal1	A	T	5: 148,829,326 (GRCm39)	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,150,665 (GRCm39)	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,823,935 (GRCm39)		probably benign	Het
Mcf2l	T	G	8: 13,068,751 (GRCm39)	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470 (GRCm39)	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,433,827 (GRCm39)		probably benign	Het
Nars1	A	T	18: 64,633,638 (GRCm39)	I544N	probably damaging	Het
Or5ak23	A	G	2: 85,245,034 (GRCm39)	L63P	possibly damaging	Het
Pbrm1	A	G	14: 30,768,387 (GRCm39)		probably benign	Het
Plcb4	A	G	2: 135,796,932 (GRCm39)		probably benign	Het
Pnliprp1	A	G	19: 58,723,138 (GRCm39)	D213G	probably damaging	Het
Psap	A	G	10: 60,136,634 (GRCm39)	N538D	possibly damaging	Het
Ptdss1	A	G	13: 67,120,714 (GRCm39)		probably benign	Het
Rap1b	G	A	10: 117,654,522 (GRCm39)		probably benign	Het
Rhcg	T	A	7: 79,244,520 (GRCm39)		probably benign	Het
Ryr1	G	A	7: 28,804,220 (GRCm39)	T550I	possibly damaging	Het
Samm50	G	A	15: 84,095,369 (GRCm39)	G452R	probably benign	Het
Scin	A	G	12: 40,130,929 (GRCm39)		probably null	Het
Sesn3	T	C	9: 14,219,854 (GRCm39)	L81S	probably damaging	Het
Skint6	A	C	4: 112,715,366 (GRCm39)		probably benign	Het
Slc30a4	A	T	2: 122,527,160 (GRCm39)	L411H	probably damaging	Het
Slc44a5	C	T	3: 153,939,782 (GRCm39)		probably benign	Het
Slc4a3	C	T	1: 75,525,665 (GRCm39)	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,088,593 (GRCm39)	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,440,458 (GRCm39)	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tnks2	T	A	19: 36,849,962 (GRCm39)	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,227,037 (GRCm39)	N1490K	probably benign	Het
Ube4b	T	G	4: 149,442,034 (GRCm39)		probably benign	Het
Usp4	G	A	9: 108,225,228 (GRCm39)		probably benign	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn1r184	A	T	7: 25,966,500 (GRCm39)	D82V	probably damaging	Het

Other mutations in Inhba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Inhba	APN	13	16,201,557 (GRCm39)	missense	probably benign	0.00
IGL02666:Inhba	APN	13	16,201,664 (GRCm39)	missense	possibly damaging	0.87
IGL03138:Inhba	UTSW	13	16,192,099 (GRCm39)	missense	probably benign
R0020:Inhba	UTSW	13	16,200,949 (GRCm39)	missense	possibly damaging	0.46
R1510:Inhba	UTSW	13	16,201,607 (GRCm39)	missense	probably damaging	0.99
R1667:Inhba	UTSW	13	16,201,209 (GRCm39)	missense	possibly damaging	0.90
R1966:Inhba	UTSW	13	16,201,221 (GRCm39)	missense	probably damaging	1.00
R4710:Inhba	UTSW	13	16,201,068 (GRCm39)	missense	probably benign
R4893:Inhba	UTSW	13	16,201,134 (GRCm39)	missense	possibly damaging	0.61
R5472:Inhba	UTSW	13	16,201,371 (GRCm39)	missense	probably damaging	0.99
R5905:Inhba	UTSW	13	16,191,893 (GRCm39)	missense	probably benign	0.05
R7555:Inhba	UTSW	13	16,192,222 (GRCm39)	missense	probably benign	0.28
R7965:Inhba	UTSW	13	16,201,572 (GRCm39)	missense	possibly damaging	0.75
R8031:Inhba	UTSW	13	16,200,860 (GRCm39)	missense	possibly damaging	0.86
R8997:Inhba	UTSW	13	16,201,107 (GRCm39)	missense	possibly damaging	0.94
R9004:Inhba	UTSW	13	16,201,526 (GRCm39)	missense	probably benign	0.05
R9359:Inhba	UTSW	13	16,191,966 (GRCm39)	missense	probably benign	0.01
R9403:Inhba	UTSW	13	16,191,966 (GRCm39)	missense	probably benign	0.01
R9474:Inhba	UTSW	13	16,192,263 (GRCm39)	missense	probably benign	0.03
R9505:Inhba	UTSW	13	16,201,356 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCCAGTGTCCAGCAGCATCCAG -3'
(R):5'- CCCCTCATGCGGTAGTGGTTAATG -3'

Sequencing Primer
(F):5'- AAAGAGTTCCCTGGACGTGC -3'
(R):5'- TTAATGACTGTTGAGTGGAAGGAG -3'

Posted On

2013-07-11