Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Bmp8a'

292752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmp8a

Ensembl Gene

ENSMUSG00000032726

Gene Name

bone morphogenetic protein 8a

Synonyms

osteogenic protein 2, Bmp7r1, OP2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

123206438-123237045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 123210220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 289 (G289C)

Ref Sequence

ENSEMBL: ENSMUSP00000099701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040496] [ENSMUST00000102641]

AlphaFold

P34821

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040496
AA Change: G289C

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037779
Gene: ENSMUSG00000032726
AA Change: G289C

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TGFb_propeptide	27	248	3.1e-67	PFAM
low complexity region	250	271	N/A	INTRINSIC
TGFB	298	412	2.18e-60	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102641
AA Change: G289C

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099701
Gene: ENSMUSG00000032726
AA Change: G289C

Domain	Start	End	E-Value	Type
Pfam:TGFb_propeptide	11	248	2e-57	PFAM
low complexity region	250	271	N/A	INTRINSIC
TGFB	298	399	2e-68	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. Mice lacking a functional copy of this gene exhibit degeneration of germ cells and the epididymal epithelium. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]
PHENOTYPE: About half of the males homozygous for targeted mutations of this gene show spermatogenesis defects and germ cell degeneration. [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
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	probably benign	Het

Other mutations in Bmp8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Bmp8a	APN	4	123,207,094 (GRCm39)	missense	probably damaging	1.00
IGL01816:Bmp8a	APN	4	123,210,190 (GRCm39)	missense	probably damaging	1.00
leanmean	UTSW	4	123,207,094 (GRCm39)	missense	probably damaging	1.00
R0437:Bmp8a	UTSW	4	123,210,690 (GRCm39)	missense	probably benign	0.28
R0540:Bmp8a	UTSW	4	123,209,723 (GRCm39)	missense	probably damaging	1.00
R1443:Bmp8a	UTSW	4	123,210,758 (GRCm39)	missense	possibly damaging	0.89
R1791:Bmp8a	UTSW	4	123,218,378 (GRCm39)	missense	possibly damaging	0.91
R1832:Bmp8a	UTSW	4	123,218,885 (GRCm39)	splice site	probably benign
R2215:Bmp8a	UTSW	4	123,218,911 (GRCm39)	missense	probably benign	0.03
R4502:Bmp8a	UTSW	4	123,236,192 (GRCm39)	missense	probably damaging	1.00
R4803:Bmp8a	UTSW	4	123,218,362 (GRCm39)	missense	possibly damaging	0.94
R5179:Bmp8a	UTSW	4	123,207,094 (GRCm39)	missense	probably damaging	1.00
R5350:Bmp8a	UTSW	4	123,207,088 (GRCm39)	missense	probably damaging	1.00
R6166:Bmp8a	UTSW	4	123,218,471 (GRCm39)	missense	probably benign	0.03
R6853:Bmp8a	UTSW	4	123,236,476 (GRCm39)	missense	unknown
R6982:Bmp8a	UTSW	4	123,218,934 (GRCm39)	missense	probably damaging	1.00
R7304:Bmp8a	UTSW	4	123,236,182 (GRCm39)	missense	probably benign	0.44
R8266:Bmp8a	UTSW	4	123,209,626 (GRCm39)	missense	probably benign	0.20
R8377:Bmp8a	UTSW	4	123,236,482 (GRCm39)	missense	unknown
R8396:Bmp8a	UTSW	4	123,218,952 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16