Mutagenetix > Incidental Mutations

Incidental Mutation 'R7000:Bmp10'

544468

Institutional Source

Beutler Lab

Gene Symbol

Bmp10

Ensembl Gene

ENSMUSG00000030046

Gene Name

bone morphogenetic protein 10

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87428994-87437677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87434193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 323 (T323A)

Ref Sequence

ENSEMBL: ENSMUSP00000032125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032125]

AlphaFold

Q9R229

Predicted Effect

probably benign
Transcript: ENSMUST00000032125
AA Change: T323A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: T323A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:TGFb_propeptide	52	256	8.1e-24	PFAM
TGFB	320	420	6.7e-52	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. Homozygous knockout mice for this gene exhibit impaired heart development and embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice display decreased embryo size, cardiac dysgenesis, defects in early embryonic vascular development, enlarged pericardium, arteriovenous malformations, and embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,702,823	A525T	probably benign	Het
Abcc6	A	G	7: 46,005,522	I515T	possibly damaging	Het
Abi1	G	A	2: 22,942,041	A420V	probably damaging	Het
Abtb2	A	T	2: 103,712,442	I887F	possibly damaging	Het
Acap3	G	A	4: 155,903,849	G602S	possibly damaging	Het
Auts2	T	A	5: 131,440,218	T754S	probably benign	Het
AW551984	T	C	9: 39,600,789	R12G	probably benign	Het
AW822073	T	C	10: 58,222,992	T647A	possibly damaging	Het
Bcan	G	A	3: 87,988,379	R817*	probably null	Het
Bpnt1	T	C	1: 185,349,856	L165P	probably damaging	Het
Casz1	G	A	4: 148,929,236	A86T	probably damaging	Het
Cd1d2	T	C	3: 86,987,773	F189L	probably benign	Het
Cep72	A	G	13: 74,058,325	M126T	probably damaging	Het
Cep85l	T	A	10: 53,298,199	T483S	probably damaging	Het
Cfi	C	A	3: 129,872,873	T415K	probably damaging	Het
Chrna7	A	G	7: 63,106,039	L253S	probably damaging	Het
Col4a4	T	C	1: 82,497,330	H596R	unknown	Het
Cyp2j8	A	T	4: 96,447,351	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,463,170		probably null	Het
Dhdh	T	C	7: 45,475,274	K332E	possibly damaging	Het
Dnah11	C	A	12: 118,017,661	C2590F	probably damaging	Het
Dnah17	T	C	11: 118,025,702		probably null	Het
Dtx1	A	G	5: 120,695,083	Y97H	probably damaging	Het
Elf1	A	G	14: 79,570,768	D183G	probably damaging	Het
Esyt3	A	C	9: 99,322,153	L94R	probably damaging	Het
Exoc3	A	G	13: 74,182,166	Y521H	probably benign	Het
F5	C	T	1: 164,179,506	T293M	probably damaging	Het
Fam118b	A	T	9: 35,235,264	H102Q	probably damaging	Het
Flad1	T	C	3: 89,402,242		probably benign	Het
Flrt3	G	A	2: 140,660,884	R275*	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Fscn1	T	A	5: 142,960,627	V60E	probably damaging	Het
Gm17175	A	T	14: 51,573,961	M1K	probably null	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,615,047	S694G	probably benign	Het
Iglon5	A	T	7: 43,476,830		probably null	Het
Iqch	T	C	9: 63,454,610	T874A	probably benign	Het
Lamc2	T	A	1: 153,166,127	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,209,580	D37E	probably benign	Het
Lman1l	G	C	9: 57,615,948	Q109E	probably benign	Het
Loxhd1	T	C	18: 77,372,433		probably null	Het
Lxn	T	G	3: 67,462,371	E60D	probably benign	Het
Man2b2	A	G	5: 36,821,869	W276R	probably damaging	Het
Mast1	T	C	8: 84,928,969	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,216,977	R923Q	probably benign	Het
Nov	A	T	15: 54,752,347	T303S	probably damaging	Het
Obscn	A	G	11: 59,136,038	L113P	probably damaging	Het
Ocln	C	T	13: 100,534,962		probably null	Het
Olfr1467	A	G	19: 13,364,623		probably benign	Het
Olfr671	G	A	7: 104,975,131	P285S	probably damaging	Het
Oog2	A	T	4: 144,195,327	Q269L	probably damaging	Het
Osbpl3	A	G	6: 50,297,157	S826P	probably damaging	Het
Otogl	T	C	10: 107,779,831	N1869S	probably benign	Het
Pamr1	G	A	2: 102,611,623	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,726,893	I334K	probably benign	Het
Pde7b	A	G	10: 20,443,292	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,192,129	V994E	probably damaging	Het
Pkp1	T	C	1: 135,889,954	M148V	probably benign	Het
Plbd1	T	G	6: 136,612,838	K461Q	probably benign	Het
Pmfbp1	A	G	8: 109,530,589	E594G	possibly damaging	Het
Pold3	A	T	7: 100,106,658	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,580,467	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,467,816		probably null	Het
Scarb2	T	C	5: 92,454,075	D320G	probably benign	Het
Sdk2	T	C	11: 113,803,169	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,937,025	T204N	probably benign	Het
Slc23a2	T	C	2: 132,094,203	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108	T94I	probably damaging	Het
Spem2	C	T	11: 69,817,756	G128S	probably benign	Het
Supt16	A	T	14: 52,171,450	S822R	probably damaging	Het
Syn3	T	C	10: 86,080,252	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,627,708	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,882,779	V148A	probably damaging	Het
Trim24	C	A	6: 37,958,678	T832K	probably benign	Het
Ubr4	C	T	4: 139,414,404	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,841,285	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,894,337	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,559,611	C553S	probably damaging	Het
Vps37c	G	T	19: 10,710,329	E51D	probably damaging	Het
Zfp62	T	G	11: 49,216,379	Y432*	probably null	Het

Other mutations in Bmp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Bmp10	APN	6	87429160	missense	possibly damaging	0.87
IGL00946:Bmp10	APN	6	87434362	missense	probably damaging	1.00
IGL01483:Bmp10	APN	6	87433951	missense	probably damaging	1.00
IGL02132:Bmp10	APN	6	87434148	missense	probably benign
R1391:Bmp10	UTSW	6	87433758	missense	probably benign	0.00
R1472:Bmp10	UTSW	6	87433797	missense	probably benign	0.34
R1938:Bmp10	UTSW	6	87433720	missense	possibly damaging	0.77
R2114:Bmp10	UTSW	6	87434459	missense	probably benign	0.10
R2158:Bmp10	UTSW	6	87434080	missense	probably benign	0.21
R4922:Bmp10	UTSW	6	87433575	missense	probably benign	0.00
R5042:Bmp10	UTSW	6	87434057	missense	probably damaging	0.98
R6041:Bmp10	UTSW	6	87434320	missense	probably damaging	1.00
R7593:Bmp10	UTSW	6	87433669	missense	probably damaging	1.00
R8682:Bmp10	UTSW	6	87433559	critical splice acceptor site	probably null
R8844:Bmp10	UTSW	6	87433699	missense	probably damaging	1.00
R9378:Bmp10	UTSW	6	87433702	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AAATAAGCATGACCCTTTGCTGG -3'
(R):5'- CTGGGAATTCTTGAGGTGGACC -3'

Sequencing Primer
(F):5'- TGTGTTTTCTGATGACCAAAGC -3'
(R):5'- CCAAGGCCTGAATAATTGCGTG -3'

Posted On

2019-05-13