Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4377001:Bmp3'

554916

Institutional Source

Beutler Lab

Gene Symbol

Bmp3

Ensembl Gene

ENSMUSG00000029335

Gene Name

bone morphogenetic protein 3

Synonyms

9530029I04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4377001 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

98854415-98884396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98879749 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 434 (I434V)

Ref Sequence

ENSEMBL: ENSMUSP00000142907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031278] [ENSMUST00000200388]

Predicted Effect

silent
Transcript: ENSMUST00000031278

SMART Domains

Protein: ENSMUSP00000031278
Gene: ENSMUSG00000029335

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TGFb_propeptide	34	231	7.9e-9	PFAM
TGFB	366	468	6.17e-60	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000200388
AA Change: I434V

SMART Domains

Protein: ENSMUSP00000142907
Gene: ENSMUSG00000029335
AA Change: I434V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TGFb_propeptide	40	227	1.4e-9	PFAM
TGFB	366	442	3.9e-11	SMART

Coding Region Coverage

1x: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

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 suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. Homozygous knockout mice for this gene exhibit increased bone density and volume, while overexpression of this gene in a transgenic mouse causes bone defects resulting in spontaneous rib fractures. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in increased bone density. [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
1700009N14Rik	T	C	4: 39,451,129	C112R	possibly damaging	Het
Acadl	G	A	1: 66,838,405	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,528,985	L1909P	probably damaging	Het
Aff3	A	C	1: 38,538,963	V31G	probably damaging	Het
Bag3	A	G	7: 128,545,717	D352G	probably damaging	Het
Bcas3	A	T	11: 85,495,842	T368S	probably damaging	Het
Casq1	T	A	1: 172,212,001	T336S	probably benign	Het
Cib2	T	G	9: 54,559,987	E11A	probably damaging	Het
Cttn	C	A	7: 144,440,096	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,757,588	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,544,405	A586T	probably benign	Het
Defb1	C	A	8: 21,776,700	Q17K	possibly damaging	Het
Dgat2	T	C	7: 99,157,135	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,263,975	F732Y	probably damaging	Het
Dock2	T	G	11: 34,721,008	D176A	probably benign	Het
Epha6	A	G	16: 60,205,552	I509T	probably damaging	Het
Fblim1	C	T	4: 141,595,409	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,221,727	H371L	probably benign	Het
Foxa1	T	A	12: 57,542,781	I218F	probably damaging	Het
Fstl1	A	T	16: 37,815,805	I53F	probably benign	Het
Gdnf	A	G	15: 7,834,530	R141G	probably benign	Het
Gemin7	G	A	7: 19,565,317	R118*	probably null	Het
Gm43218	T	C	6: 70,240,581	T64A	probably benign	Het
Gnat3	G	A	5: 18,015,559	M243I		Het
Gramd1a	A	T	7: 31,143,670	I71N	possibly damaging	Het
Hist1h4k	C	G	13: 21,750,484	G8R	unknown	Het
Htt	A	T	5: 34,875,965	D1859V	probably benign	Het
Hyal1	T	C	9: 107,579,269	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,991,238	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,766,208	R64G	probably benign	Het
Itgb1	T	A	8: 128,710,383	V95D	probably damaging	Het
Jak1	A	C	4: 101,179,551	N297K	probably benign	Het
Kcna4	T	A	2: 107,296,860	N646K	possibly damaging	Het
Krt42	A	G	11: 100,263,105	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,502,762	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,716,695	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,474,354	T410M	probably damaging	Het
Nav3	T	C	10: 109,716,605	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,948,439	C49R	probably benign	Het
Neurl4	A	G	11: 69,910,406	H1201R	probably benign	Het
Nfasc	T	C	1: 132,583,066	Y1073C	unknown	Het
Nrbp2	A	G	15: 76,087,096	Y253H	probably benign	Het
Olfr1279	T	A	2: 111,306,880	V225D	probably damaging	Het
Olfr1295	T	C	2: 111,565,211	T78A	probably damaging	Het
Olfr95	T	A	17: 37,211,089	I255F	probably benign	Het
Pcsk5	A	T	19: 17,439,102	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,220,912	D147A	probably damaging	Het
Siglec15	T	A	18: 78,057,375		probably benign	Het
Skint5	T	A	4: 113,597,703	T1011S	unknown	Het
Slc9a2	A	G	1: 40,743,841	T422A	probably damaging	Het
Tert	C	T	13: 73,628,261	T377I	possibly damaging	Het
Tex15	T	A	8: 33,571,101	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,696,918	D212G	probably benign	Het
Tnc	T	G	4: 64,017,736	D321A	probably damaging	Het
Topbp1	G	A	9: 103,309,889	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,370,203	M1I	probably null	Het
Vipr2	G	A	12: 116,094,798	D112N	probably benign	Het
Vps13a	T	C	19: 16,740,901	E485G	probably damaging	Het
Vps37a	T	A	8: 40,537,046	I198N	possibly damaging	Het
Zbtb9	T	C	17: 26,974,761	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,242,742	V343L	probably damaging	Het

Other mutations in Bmp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Bmp3	APN	5	98872379	missense	possibly damaging	0.47
IGL02396:Bmp3	APN	5	98872719	missense	possibly damaging	0.47
IGL03058:Bmp3	APN	5	98872094	missense	probably damaging	1.00
IGL03189:Bmp3	APN	5	98872720	missense	probably benign	0.23
IGL03400:Bmp3	APN	5	98872098	missense	probably damaging	1.00
R0139:Bmp3	UTSW	5	98879909	missense	possibly damaging	0.72
R0653:Bmp3	UTSW	5	98872111	missense	probably damaging	1.00
R0881:Bmp3	UTSW	5	98872602	missense	possibly damaging	0.95
R1261:Bmp3	UTSW	5	98879926	missense	probably damaging	1.00
R1413:Bmp3	UTSW	5	98872405	missense	probably damaging	0.98
R1481:Bmp3	UTSW	5	98872470	missense	probably damaging	1.00
R3009:Bmp3	UTSW	5	98879837	missense	probably damaging	1.00
R4507:Bmp3	UTSW	5	98879774	missense	probably damaging	1.00
R4750:Bmp3	UTSW	5	98872558	missense	possibly damaging	0.89
R4833:Bmp3	UTSW	5	98855207	missense	probably damaging	1.00
R4921:Bmp3	UTSW	5	98872061	missense	probably damaging	1.00
R5022:Bmp3	UTSW	5	98872824	missense	probably damaging	1.00
R6039:Bmp3	UTSW	5	98872350	missense	probably benign	0.00
R6039:Bmp3	UTSW	5	98872350	missense	probably benign	0.00
R7179:Bmp3	UTSW	5	98872763	missense	probably damaging	1.00
R7448:Bmp3	UTSW	5	98872218	missense	probably damaging	0.96
R7880:Bmp3	UTSW	5	98872575	missense	probably damaging	1.00
R7963:Bmp3	UTSW	5	98872575	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-06-07