Mutagenetix > Incidental Mutation

Incidental Mutation 'R8682:Bmp10'

661803

Institutional Source

Beutler Lab

Gene Symbol

Bmp10

Ensembl Gene

ENSMUSG00000030046

Gene Name

bone morphogenetic protein 10

Synonyms

MMRRC Submission

068537-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87428994-87437677 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 87433559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032125 (fasta)

Gene Model

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

AlphaFold

Q9R229

Predicted Effect

probably null
Transcript: ENSMUST00000032125

SMART Domains

Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,423,899 (GRCm38)	L141Q	probably null	Het
Abtb2	A	T	2: 103,567,375 (GRCm38)	T217S	probably benign	Het
Adcy1	T	C	11: 7,161,328 (GRCm38)	I873T	probably damaging	Het
Angpt4	A	G	2: 151,927,085 (GRCm38)	M172V	probably benign	Het
Apaf1	A	T	10: 90,995,670 (GRCm38)	V1194D	probably damaging	Het
Arhgap30	T	C	1: 171,407,402 (GRCm38)	S479P	probably benign	Het
Asah2	C	T	19: 32,052,877 (GRCm38)	V132M	probably damaging	Het
Bsn	T	C	9: 108,106,169 (GRCm38)	Y790C		Het
Cacna2d1	C	A	5: 16,353,839 (GRCm38)	R732S	possibly damaging	Het
Casr	A	T	16: 36,495,422 (GRCm38)	F762Y	possibly damaging	Het
Cbln1	T	C	8: 87,472,107 (GRCm38)	D45G	possibly damaging	Het
Cd177	A	T	7: 24,760,013 (GRCm38)	M61K	possibly damaging	Het
Cdh11	T	C	8: 102,650,716 (GRCm38)	I433V	probably benign	Het
Cdhr5	A	G	7: 141,275,986 (GRCm38)		probably null	Het
Col12a1	T	A	9: 79,661,076 (GRCm38)	K1622I	probably benign	Het
Cyp2d9	A	G	15: 82,453,716 (GRCm38)	D103G	probably damaging	Het
Eif4a3l1	A	G	6: 136,329,029 (GRCm38)	T163A	possibly damaging	Het
Fem1b	A	T	9: 62,797,150 (GRCm38)	L276*	probably null	Het
Fggy	T	A	4: 95,812,121 (GRCm38)	V343E	probably damaging	Het
Flt3	A	G	5: 147,383,455 (GRCm38)	V33A	probably benign	Het
Gm6904	G	A	14: 59,258,584 (GRCm38)	T27I	probably benign	Het
Grn	T	C	11: 102,434,820 (GRCm38)	Y288H	probably benign	Het
Grtp1	G	A	8: 13,179,499 (GRCm38)	R272W	probably damaging	Het
H2-Aa	A	G	17: 34,283,760 (GRCm38)	I144T	possibly damaging	Het
Herc1	A	G	9: 66,462,848 (GRCm38)	D469G		Het
Hsf2	G	A	10: 57,505,171 (GRCm38)	E286K	possibly damaging	Het
Hydin	A	G	8: 110,309,166 (GRCm38)	E163G	probably damaging	Het
Il6ra	A	G	3: 89,886,669 (GRCm38)	I224T	possibly damaging	Het
Itih3	T	A	14: 30,920,716 (GRCm38)	I204F	possibly damaging	Het
Kcnj9	A	T	1: 172,326,113 (GRCm38)	M148K	possibly damaging	Het
Lepr	T	G	4: 101,792,072 (GRCm38)	V890G	probably benign	Het
Mslnl	A	G	17: 25,746,988 (GRCm38)	D612G	probably benign	Het
Myl2	T	A	5: 122,106,735 (GRCm38)	V156D	probably damaging	Het
Neb	C	A	2: 52,246,845 (GRCm38)	W3208L	probably damaging	Het
Neto2	T	C	8: 85,640,666 (GRCm38)	Y511C	probably benign	Het
Obox2	C	A	7: 15,396,987 (GRCm38)	T48K	possibly damaging	Het
Or14a259	C	T	7: 86,364,165 (GRCm38)	M57I	probably damaging	Het
Or51f2	T	A	7: 102,877,439 (GRCm38)	F106L	probably benign	Het
Or5aq6	A	T	2: 87,093,046 (GRCm38)	M117K	possibly damaging	Het
Osbpl6	C	G	2: 76,577,081 (GRCm38)	H486D	probably benign	Het
Pfkfb3	T	C	2: 11,484,333 (GRCm38)	K264E	probably benign	Het
Pla2r1	T	A	2: 60,422,776 (GRCm38)	T1324S	possibly damaging	Het
Plekhg1	A	T	10: 3,947,523 (GRCm38)	Y495F		Het
Ppp2r5d	T	C	17: 46,687,063 (GRCm38)	K225E	probably benign	Het
Ptpn11	T	C	5: 121,167,990 (GRCm38)	D64G	possibly damaging	Het
Ptprs	A	G	17: 56,435,849 (GRCm38)	I431T	probably damaging	Het
Rapgef5	T	C	12: 117,581,812 (GRCm38)	S100P	probably benign	Het
Rnf219	G	T	14: 104,480,233 (GRCm38)	R235S	probably damaging	Het
Shh	T	A	5: 28,458,060 (GRCm38)	H370L	probably benign	Het
Siah3	A	T	14: 75,525,603 (GRCm38)	H98L	possibly damaging	Het
Sim2	C	T	16: 94,123,333 (GRCm38)	H446Y	probably benign	Het
Skint4	T	C	4: 112,136,040 (GRCm38)	I320T	possibly damaging	Het
Sorcs1	A	T	19: 50,378,960 (GRCm38)	N221K	probably damaging	Het
Sox6	T	C	7: 115,476,956 (GRCm38)	S816G	probably damaging	Het
Sphkap	T	C	1: 83,279,276 (GRCm38)	T251A	probably benign	Het
Stard9	T	C	2: 120,703,315 (GRCm38)	V3351A	possibly damaging	Het
Tbc1d15	A	G	10: 115,210,290 (GRCm38)	V436A	probably benign	Het
Thsd7b	A	T	1: 129,760,274 (GRCm38)	K641*	probably null	Het
Tmc5	G	T	7: 118,670,702 (GRCm38)	V892F	possibly damaging	Het
Tpsab1	T	A	17: 25,343,711 (GRCm38)	H238L	probably benign	Het
Trank1	A	G	9: 111,365,344 (GRCm38)	N812S	probably benign	Het
Trio	T	A	15: 27,905,192 (GRCm38)	N163Y	unknown	Het
Ttc39d	A	G	17: 80,217,264 (GRCm38)	T451A	probably benign	Het
Ube3b	T	C	5: 114,412,290 (GRCm38)	L832P	probably damaging	Het
Vmn2r15	C	A	5: 109,294,072 (GRCm38)	C165F	probably damaging	Het
Vmn2r90	T	C	17: 17,712,082 (GRCm38)	F84L	possibly damaging	Het
Wdr60	A	T	12: 116,224,990 (GRCm38)	H661Q	probably damaging	Het
Wdr95	C	T	5: 149,595,287 (GRCm38)	T531I	possibly damaging	Het
Zcrb1	C	A	15: 93,386,237 (GRCm38)	G191V	probably benign	Het
Zfp111	G	A	7: 24,198,558 (GRCm38)	P544S	probably damaging	Het
Zfyve9	T	C	4: 108,719,342 (GRCm38)	S181G	probably benign	Het

Other mutations in Bmp10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Bmp10	APN	6	87,429,160 (GRCm38)	missense	possibly damaging	0.87
IGL00946:Bmp10	APN	6	87,434,362 (GRCm38)	missense	probably damaging	1.00
IGL01483:Bmp10	APN	6	87,433,951 (GRCm38)	missense	probably damaging	1.00
IGL02132:Bmp10	APN	6	87,434,148 (GRCm38)	missense	probably benign
R1391:Bmp10	UTSW	6	87,433,758 (GRCm38)	missense	probably benign	0.00
R1472:Bmp10	UTSW	6	87,433,797 (GRCm38)	missense	probably benign	0.34
R1938:Bmp10	UTSW	6	87,433,720 (GRCm38)	missense	possibly damaging	0.77
R2114:Bmp10	UTSW	6	87,434,459 (GRCm38)	missense	probably benign	0.10
R2158:Bmp10	UTSW	6	87,434,080 (GRCm38)	missense	probably benign	0.21
R4922:Bmp10	UTSW	6	87,433,575 (GRCm38)	missense	probably benign	0.00
R5042:Bmp10	UTSW	6	87,434,057 (GRCm38)	missense	probably damaging	0.98
R6041:Bmp10	UTSW	6	87,434,320 (GRCm38)	missense	probably damaging	1.00
R7000:Bmp10	UTSW	6	87,434,193 (GRCm38)	missense	probably benign	0.02
R7593:Bmp10	UTSW	6	87,433,669 (GRCm38)	missense	probably damaging	1.00
R8844:Bmp10	UTSW	6	87,433,699 (GRCm38)	missense	probably damaging	1.00
R9378:Bmp10	UTSW	6	87,433,702 (GRCm38)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TCCTTGTGAAGTAGCTCAGGC -3'
(R):5'- CTAAGACCAGCATGCTCCTC -3'

Sequencing Primer
(F):5'- GGTTTTACTGCTGTGAACAGACACC -3'
(R):5'- TGCACTCTCTAGTACCTCAAAAATGG -3'

Posted On

2021-03-08