Mutagenetix > Incidental Mutation

Incidental Mutation 'R8031:Inhba'

617971

Institutional Source

Beutler Lab

Gene Symbol

Inhba

Ensembl Gene

ENSMUSG00000041324

Gene Name

inhibin beta-A

Synonyms

activin beta-A

MMRRC Submission

067469-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8031 (G1)

Quality Score

176.009

Status

Validated

Chromosome

Chromosomal Location

16186436-16206206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16200860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 141 (S141T)

Ref Sequence

ENSEMBL: ENSMUSP00000047894 (fasta)

Gene Model

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

AlphaFold

Q04998

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042603
AA Change: S141T

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047894
Gene: ENSMUSG00000041324
AA Change: S141T

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

possibly damaging
Transcript: ENSMUST00000164993
AA Change: S141T

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132085
Gene: ENSMUSG00000041324
AA Change: S141T

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

Coding Region Coverage

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

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,888,924 (GRCm39)		probably null	Het
Arhgdib	A	G	6: 136,901,274 (GRCm39)	Y152H	probably benign	Het
Atxn10	T	G	15: 85,277,594 (GRCm39)	S354A	probably benign	Het
Cacng6	T	C	7: 3,473,401 (GRCm39)	V75A	possibly damaging	Het
Cdc23	A	G	18: 34,784,741 (GRCm39)	V7A	unknown	Het
Cdc40	T	A	10: 40,728,512 (GRCm39)	E157D	probably benign	Het
Defa25	T	A	8: 21,575,253 (GRCm39)	N77K	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab3	T	C	11: 104,772,295 (GRCm39)	V2659A	possibly damaging	Het
Efcab6	T	C	15: 83,867,699 (GRCm39)	K260E	possibly damaging	Het
Eif4a3	T	C	11: 119,179,731 (GRCm39)	Y352C	probably damaging	Het
Erc2	A	T	14: 27,733,649 (GRCm39)	K566N	probably damaging	Het
Fam3b	A	C	16: 97,283,052 (GRCm39)	Y74*	probably null	Het
Flg2	T	A	3: 93,127,521 (GRCm39)	S2144R	unknown	Het
Fmo4	G	T	1: 162,626,421 (GRCm39)	S375*	probably null	Het
Fsip2	A	G	2: 82,817,235 (GRCm39)	T4323A	probably benign	Het
Gm16503	A	T	4: 147,625,767 (GRCm39)	H87L	unknown	Het
Hes7	C	T	11: 69,013,591 (GRCm39)	A150V	probably damaging	Het
Hk1	T	A	10: 62,132,478 (GRCm39)	N190I	probably benign	Het
Il17rc	A	G	6: 113,459,782 (GRCm39)	D576G	probably damaging	Het
Itga8	G	T	2: 12,160,297 (GRCm39)	D840E	probably benign	Het
Kazn	T	C	4: 141,881,862 (GRCm39)	E126G		Het
Kcnk13	A	G	12: 99,932,438 (GRCm39)	Y78C	probably damaging	Het
Kcnt1	C	A	2: 25,798,054 (GRCm39)		probably benign	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Myo9a	A	G	9: 59,687,374 (GRCm39)	K160E	probably benign	Het
Nlrp1b	T	C	11: 71,107,747 (GRCm39)	R585G	probably benign	Het
Ntrk2	T	C	13: 59,022,193 (GRCm39)	I416T	probably benign	Het
Or4c112	A	T	2: 88,853,972 (GRCm39)	I125N	probably damaging	Het
Or52h7	T	A	7: 104,214,316 (GRCm39)	I296N	probably damaging	Het
Or5k14	T	C	16: 58,693,054 (GRCm39)	N153S	probably benign	Het
Or8k33	G	A	2: 86,384,447 (GRCm39)	T7I	probably damaging	Het
P4ha3	A	G	7: 99,941,905 (GRCm39)	E106G	probably damaging	Het
Pcif1	A	G	2: 164,728,442 (GRCm39)	N233S	probably damaging	Het
Pgm2l1	C	A	7: 99,921,625 (GRCm39)	R619S	probably damaging	Het
Pkhd1l1	A	G	15: 44,376,230 (GRCm39)	Q964R	probably damaging	Het
Pla2g4a	T	A	1: 149,776,964 (GRCm39)	I89F	possibly damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Psmd4	T	C	3: 94,943,203 (GRCm39)	D67G	probably damaging	Het
Ptprt	G	A	2: 161,977,377 (GRCm39)	T307I	probably damaging	Het
Rnf213	C	A	11: 119,321,107 (GRCm39)	C1188*	probably null	Het
Ror2	C	T	13: 53,267,193 (GRCm39)	C426Y	probably damaging	Het
Sacs	C	T	14: 61,441,640 (GRCm39)	H1229Y	probably damaging	Het
Slc25a25	A	T	2: 32,311,517 (GRCm39)	L118Q	probably damaging	Het
Slc38a6	G	A	12: 73,397,377 (GRCm39)	A340T	probably benign	Het
Smarca5	A	T	8: 81,431,311 (GRCm39)	Y969N	probably damaging	Het
Sorbs1	C	A	19: 40,314,933 (GRCm39)	M626I	probably benign	Het
Spink5	T	A	18: 44,143,303 (GRCm39)	D753E	probably benign	Het
Taf1d	T	G	9: 15,221,695 (GRCm39)	I226S	probably damaging	Het
Tmem225	A	G	9: 40,060,689 (GRCm39)	I83V	possibly damaging	Het
Top2b	A	G	14: 16,412,986 (GRCm38)	D965G	probably damaging	Het
Traf3ip1	A	G	1: 91,429,141 (GRCm39)	K303E	probably damaging	Het
Ube2n	C	T	10: 95,377,244 (GRCm39)	R70C	probably benign	Het
Ubl7	C	T	9: 57,830,489 (GRCm39)	P312S	probably damaging	Het
Vmn1r34	A	T	6: 66,614,165 (GRCm39)	M191K	probably damaging	Het
Vmn2r103	C	T	17: 20,013,759 (GRCm39)	H184Y	probably benign	Het
Vmn2r104	T	C	17: 20,263,048 (GRCm39)	I138V	probably benign	Het
Vmn2r49	T	C	7: 9,720,408 (GRCm39)	E361G	possibly damaging	Het
Vmn2r78	T	C	7: 86,604,075 (GRCm39)	L751P	probably damaging	Het
Zc3h13	T	A	14: 75,568,070 (GRCm39)	I1121N	not run	Het
Zfp235	T	A	7: 23,841,114 (GRCm39)	V511E	probably benign	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
R0591:Inhba	UTSW	13	16,201,405 (GRCm39)	missense	probably damaging	1.00
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
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'- CGTGGGCTATAAATTGCTGACTC -3'
(R):5'- AGCAACAGTTCACTCCTCTC -3'

Sequencing Primer
(F):5'- CTGACTCTGTATTGTGTGCAATAGC -3'
(R):5'- AGTTCACTCCTCTCCCCCTTTAAG -3'

Posted On

2020-01-23