Mutagenetix > Incidental Mutations

Incidental Mutation 'R6041:Bmp10'

483542

Institutional Source

Beutler Lab

Gene Symbol

Bmp10

Ensembl Gene

ENSMUSG00000030046

Gene Name

bone morphogenetic protein 10

Synonyms

MMRRC Submission

044209-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87428994-87437677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87434320 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 365 (K365R)

Ref Sequence

ENSEMBL: ENSMUSP00000032125 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032125
AA Change: K365R

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

SMART Domains

Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: K365R

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

Meta Mutation Damage Score

0.5757

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,376,380	M297K	probably damaging	Het
Ace	A	C	11: 105,975,308	H34P	probably benign	Het
Agbl2	A	T	2: 90,808,027	N652I	probably benign	Het
Auh	T	A	13: 52,919,086	L86F	possibly damaging	Het
Cacna1d	A	T	14: 30,042,357	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,717,939	R105L	possibly damaging	Het
Casc3	T	G	11: 98,828,559	V509G	probably damaging	Het
Clmn	A	G	12: 104,781,872	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,759,427	S142C	probably damaging	Het
Derl3	T	C	10: 75,893,501	L26P	probably damaging	Het
Dgkh	C	T	14: 78,587,627	A863T	probably damaging	Het
Dhx30	C	T	9: 110,084,598	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,416,753	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,289,645	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,868,721	N156I	probably benign	Het
Dpep1	A	T	8: 123,200,655	E316V	probably damaging	Het
F2rl2	T	A	13: 95,701,109	F221I	probably benign	Het
Fam189a2	A	T	19: 23,984,829	M270K	probably benign	Het
Flg2	T	A	3: 93,220,361	D173E	probably benign	Het
Fshr	A	T	17: 88,985,986	D421E	probably damaging	Het
Gfm2	T	A	13: 97,172,623	V612E	probably benign	Het
Gm17655	T	G	5: 110,047,573	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,278,184		probably benign	Het
Gm5724	A	C	6: 141,739,038	D230E	probably benign	Het
Gpr142	A	T	11: 114,806,377	I250F	probably damaging	Het
Hexa	A	G	9: 59,563,236	Q447R	probably damaging	Het
Leng8	T	C	7: 4,145,569	L780P	probably benign	Het
Lrrk1	T	C	7: 66,262,133	D1893G	probably benign	Het
Macf1	T	A	4: 123,513,848	I139F	probably damaging	Het
Megf10	A	T	18: 57,180,549	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549		noncoding transcript	Het
Myh13	A	T	11: 67,364,730	E1642V	probably damaging	Het
Myof	A	G	19: 37,924,620	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,324,264	D1765V	probably damaging	Het
Npy5r	A	T	8: 66,682,023	N39K	possibly damaging	Het
Olfr1026	G	A	2: 85,923,391	G41D	probably damaging	Het
Pax6	A	G	2: 105,683,902	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,360,572	Y307H	probably benign	Het
Pmf1	A	C	3: 88,396,051	Y68D	probably damaging	Het
Psen2	C	A	1: 180,245,727	E10*	probably null	Het
Ptprs	T	A	17: 56,419,080	M991L	probably benign	Het
R3hdm4	A	G	10: 79,913,661	V20A	possibly damaging	Het
Rad17	T	C	13: 100,617,766	N649D	probably benign	Het
Rad9b	A	T	5: 122,351,352	C38S	probably damaging	Het
Rapgef2	T	C	3: 79,069,162	M1296V	probably benign	Het
Rbp3	T	C	14: 33,956,482	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,344,782	S54P	probably benign	Het
Sclt1	T	A	3: 41,627,177	I688F	probably damaging	Het
Scn10a	A	G	9: 119,609,469	I1778T	probably damaging	Het
Scrib	C	T	15: 76,067,172	R159Q	possibly damaging	Het
Senp1	C	T	15: 98,058,216	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,342,250	F417I	probably damaging	Het
Smcr8	A	G	11: 60,779,568	D514G	probably damaging	Het
Tbc1d23	T	G	16: 57,173,150	D551A	probably benign	Het
Tet1	G	T	10: 62,813,373	T149N	probably damaging	Het
Them4	A	T	3: 94,317,499	D61V	possibly damaging	Het
Trak1	A	T	9: 121,460,412	I597F	probably damaging	Het
Trank1	A	G	9: 111,377,796	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,142,984	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,771,231	R575G	probably benign	Het
Zfp941	A	T	7: 140,812,245	C400*	probably null	Het
Zswim5	A	C	4: 116,962,621	S408R	probably benign	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
R7000:Bmp10	UTSW	6	87434193	missense	probably benign	0.02
R7593:Bmp10	UTSW	6	87433669	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCAGATGAGGTCGAACATG -3'
(R):5'- TAAATAAGCCATGGGACGCC -3'

Sequencing Primer
(F):5'- CGAACATGATTGATGATTCGTCCGC -3'
(R):5'- ATGGGACGCCTCTCCTC -3'

Posted On

2017-07-14