Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Inhbb'

557414

Institutional Source

Beutler Lab

Gene Symbol

Inhbb

Ensembl Gene

ENSMUSG00000037035

Gene Name

inhibin beta-B

Synonyms

activin beta-B

MMRRC Submission

045329-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R7158 (G1)

Quality Score

137.008

Status

Validated

Chromosome

Chromosomal Location

119343195-119349978 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 119348752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 22 (L22*)

Ref Sequence

ENSEMBL: ENSMUSP00000044918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038765]

AlphaFold

Q04999

Predicted Effect

probably null
Transcript: ENSMUST00000038765
AA Change: L22*

SMART Domains

Protein: ENSMUSP00000044918
Gene: ENSMUSG00000037035
AA Change: L22*

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:TGFb_propeptide	66	282	1.4e-13	PFAM
TGFB	307	411	5.55e-53	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

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. Homozygous knockout mice for this gene exhibit eyelid defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Some homozygotes for targeted null mutations exhibit open eyes at birth and impaired maternal nuturing. Mutant females for one line exhibit extended gestation length, retarded mammary duct elongation and alveolar morphogenesis, and are unable to nurse their pups. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Abca8b	T	A	11: 109,825,415 (GRCm39)	E1595V	probably damaging	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Ddx43	A	C	9: 78,319,501 (GRCm39)	Q276H	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nfic	C	T	10: 81,256,439 (GRCm39)	R75Q	probably damaging	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rasa4	A	G	5: 136,130,875 (GRCm39)	E382G	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,449,737 (GRCm39)	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Smchd1	A	C	17: 71,707,145 (GRCm39)	I941R	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	probably benign	Het

Other mutations in Inhbb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02212:Inhbb	APN	1	119,345,713 (GRCm39)	missense	probably benign	0.33
R0091:Inhbb	UTSW	1	119,345,125 (GRCm39)	missense	probably damaging	1.00
R0609:Inhbb	UTSW	1	119,345,146 (GRCm39)	missense	probably damaging	1.00
R1352:Inhbb	UTSW	1	119,348,425 (GRCm39)	missense	probably benign	0.30
R2119:Inhbb	UTSW	1	119,348,431 (GRCm39)	missense	probably benign	0.04
R3964:Inhbb	UTSW	1	119,345,291 (GRCm39)	missense	probably damaging	1.00
R3966:Inhbb	UTSW	1	119,345,291 (GRCm39)	missense	probably damaging	1.00
R4996:Inhbb	UTSW	1	119,348,548 (GRCm39)	missense	probably damaging	1.00
R5709:Inhbb	UTSW	1	119,345,260 (GRCm39)	missense	probably damaging	0.97
R5973:Inhbb	UTSW	1	119,345,806 (GRCm39)	missense	possibly damaging	0.70
R6376:Inhbb	UTSW	1	119,345,411 (GRCm39)	missense	probably damaging	1.00
R6499:Inhbb	UTSW	1	119,345,069 (GRCm39)	missense	probably damaging	1.00
R6685:Inhbb	UTSW	1	119,345,335 (GRCm39)	missense	probably damaging	1.00
R7498:Inhbb	UTSW	1	119,345,608 (GRCm39)	missense	probably damaging	1.00
R8920:Inhbb	UTSW	1	119,345,107 (GRCm39)	missense	probably damaging	1.00
Z1176:Inhbb	UTSW	1	119,345,528 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGATGTGTCTCTTCACCGCC -3'
(R):5'- TTCAGTCTCCAGAGCGACTTG -3'

Sequencing Primer
(F):5'- TCTTCACCGCCTCCAGGAAG -3'
(R):5'- TCGCTTCACCCCGATCAGG -3'

Posted On

2019-06-26