Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02331:Bmp7'

288678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmp7

Ensembl Gene

ENSMUSG00000008999

Gene Name

bone morphogenetic protein 7

Synonyms

OP1, osteogenic protein 1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02331

Quality Score

Status

Chromosome

Chromosomal Location

172709805-172782114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 172714724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 362 (C362S)

Ref Sequence

ENSEMBL: ENSMUSP00000009143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009143]

AlphaFold

P23359

Predicted Effect

probably damaging
Transcript: ENSMUST00000009143
AA Change: C362S

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

SMART Domains

Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: C362S

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:TGFb_propeptide	34	279	4.3e-97	PFAM
TGFB	329	430	2.14e-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. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016]
PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [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
Ace	T	G	11: 105,862,170 (GRCm39)	F241L	possibly damaging	Het
Alx1	A	G	10: 102,858,160 (GRCm39)	F180L	possibly damaging	Het
Apaf1	T	C	10: 90,895,481 (GRCm39)	D428G	probably damaging	Het
Arap2	G	T	5: 62,807,025 (GRCm39)		probably benign	Het
Arnt2	A	G	7: 83,914,832 (GRCm39)	Y511H	probably damaging	Het
Bpifb9a	A	G	2: 154,104,307 (GRCm39)	D250G	possibly damaging	Het
Ccnk	T	A	12: 108,155,343 (GRCm39)	L100H	probably damaging	Het
Cdh23	T	C	10: 60,301,322 (GRCm39)	I451V	probably damaging	Het
Cemip	A	G	7: 83,613,192 (GRCm39)		probably null	Het
Cep78	T	A	19: 15,951,779 (GRCm39)	Q342L	probably benign	Het
Clca3b	T	C	3: 144,547,167 (GRCm39)		probably benign	Het
Cpb2	A	G	14: 75,520,844 (GRCm39)	R420G	possibly damaging	Het
Cyp2c50	A	T	19: 40,079,387 (GRCm39)		probably null	Het
Dbnl	T	C	11: 5,749,997 (GRCm39)	*433R	probably null	Het
Elovl5	T	C	9: 77,887,181 (GRCm39)	S191P	possibly damaging	Het
Fbxo42	A	G	4: 140,895,157 (GRCm39)	E40G	probably benign	Het
Fpgt	T	C	3: 154,793,499 (GRCm39)	D176G	possibly damaging	Het
Gm1110	C	A	9: 26,824,583 (GRCm39)		probably null	Het
Grik4	A	T	9: 42,453,284 (GRCm39)	S700R	probably damaging	Het
Herc4	T	C	10: 63,099,939 (GRCm39)	S121P	probably benign	Het
Hps4	T	C	5: 112,517,402 (GRCm39)	V263A	probably benign	Het
Hsd11b1	A	C	1: 192,922,924 (GRCm39)	L81R	probably damaging	Het
Ift122	T	C	6: 115,864,285 (GRCm39)	M310T	probably damaging	Het
Isg20l2	G	T	3: 87,839,394 (GRCm39)	V202L	probably damaging	Het
Klf3	A	G	5: 64,986,415 (GRCm39)	K111E	probably damaging	Het
Kxd1	T	C	8: 70,968,090 (GRCm39)	T128A	probably benign	Het
Lgals7	A	G	7: 28,565,143 (GRCm39)	T94A	probably benign	Het
Lrp5	T	C	19: 3,641,816 (GRCm39)	H1382R	possibly damaging	Het
Muc6	T	C	7: 141,226,726 (GRCm39)	T1434A	possibly damaging	Het
Mybl2	C	T	2: 162,916,605 (GRCm39)	R419W	probably damaging	Het
Myo5b	A	T	18: 74,771,111 (GRCm39)		probably null	Het
Myo7a	A	G	7: 97,702,389 (GRCm39)	V2138A	possibly damaging	Het
Naip1	T	A	13: 100,563,304 (GRCm39)	K620N	probably benign	Het
Ntrk2	T	C	13: 58,994,670 (GRCm39)		probably null	Het
Or8g21	A	G	9: 38,906,402 (GRCm39)	S110P	probably damaging	Het
Osbpl5	A	G	7: 143,263,532 (GRCm39)	V105A	probably benign	Het
Pfkp	A	C	13: 6,647,996 (GRCm39)	F527V	probably benign	Het
Pilra	C	A	5: 137,833,917 (GRCm39)	G47*	probably null	Het
Pkdrej	C	A	15: 85,705,528 (GRCm39)	C136F	probably damaging	Het
Ppp1r16a	T	A	15: 76,575,200 (GRCm39)	M36K	probably benign	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Rnf40	T	C	7: 127,188,999 (GRCm39)	V124A	probably benign	Het
St7l	A	G	3: 104,833,904 (GRCm39)	T522A	probably damaging	Het
Stox2	G	A	8: 47,644,979 (GRCm39)	P891L	probably damaging	Het
Trbv12-1	T	C	6: 41,090,972 (GRCm39)	S115P	probably damaging	Het
Trpm1	A	G	7: 63,884,800 (GRCm39)	D827G	probably benign	Het
Ttll6	T	A	11: 96,026,573 (GRCm39)	M119K	probably damaging	Het
Ufl1	C	A	4: 25,251,971 (GRCm39)	C568F	probably damaging	Het
Usp29	A	T	7: 6,965,155 (GRCm39)	I333F	probably benign	Het
Vta1	G	A	10: 14,581,138 (GRCm39)	T23M	probably damaging	Het
Zswim8	A	G	14: 20,773,325 (GRCm39)	D1771G	probably damaging	Het

Other mutations in Bmp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Bmp7	APN	2	172,717,055 (GRCm39)	missense	probably damaging	1.00
IGL01143:Bmp7	APN	2	172,721,275 (GRCm39)	missense	probably benign
IGL01636:Bmp7	APN	2	172,717,001 (GRCm39)	splice site	probably benign
IGL03211:Bmp7	APN	2	172,714,676 (GRCm39)	missense	possibly damaging	0.70
R1957:Bmp7	UTSW	2	172,781,714 (GRCm39)	missense	probably damaging	0.97
R2044:Bmp7	UTSW	2	172,781,708 (GRCm39)	missense	possibly damaging	0.46
R3772:Bmp7	UTSW	2	172,712,015 (GRCm39)	missense	probably damaging	1.00
R4392:Bmp7	UTSW	2	172,758,335 (GRCm39)	missense	probably benign	0.25
R6716:Bmp7	UTSW	2	172,714,682 (GRCm39)	missense	probably damaging	1.00
R6774:Bmp7	UTSW	2	172,714,751 (GRCm39)	missense	probably damaging	1.00
R6864:Bmp7	UTSW	2	172,781,855 (GRCm39)	missense	probably benign	0.00
R6904:Bmp7	UTSW	2	172,714,706 (GRCm39)	missense	probably damaging	0.97
R7295:Bmp7	UTSW	2	172,781,690 (GRCm39)	missense	probably damaging	1.00
R7390:Bmp7	UTSW	2	172,711,998 (GRCm39)	missense	probably damaging	1.00
R7392:Bmp7	UTSW	2	172,711,998 (GRCm39)	missense	probably damaging	1.00
R7560:Bmp7	UTSW	2	172,781,757 (GRCm39)	missense	possibly damaging	0.85
R7871:Bmp7	UTSW	2	172,781,784 (GRCm39)	missense	probably benign	0.00
R7938:Bmp7	UTSW	2	172,721,283 (GRCm39)	missense	probably benign	0.44
R8790:Bmp7	UTSW	2	172,712,060 (GRCm39)	missense	probably benign	0.08
R8927:Bmp7	UTSW	2	172,721,211 (GRCm39)	missense	probably damaging	0.99
R8928:Bmp7	UTSW	2	172,721,211 (GRCm39)	missense	probably damaging	0.99
R9458:Bmp7	UTSW	2	172,721,268 (GRCm39)	missense	possibly damaging	0.83
R9470:Bmp7	UTSW	2	172,711,960 (GRCm39)	missense	probably damaging	1.00
X0024:Bmp7	UTSW	2	172,781,594 (GRCm39)	missense	probably benign	0.25

Posted On

2015-04-16