Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Bmp10'

232925

Institutional Source

Beutler Lab

Gene Symbol

Bmp10

Ensembl Gene

ENSMUSG00000030046

Gene Name

bone morphogenetic protein 10

Synonyms

MMRRC Submission

040118-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87428994-87437677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87434459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 411 (E411D)

Ref Sequence

ENSEMBL: ENSMUSP00000032125 (fasta)

Gene Model

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

AlphaFold

Q9R229

Predicted Effect

probably benign
Transcript: ENSMUST00000032125
AA Change: E411D

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: E411D

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: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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 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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 155,047,729	R72G	probably benign	Het
Adgrb1	T	A	15: 74,540,562		probably null	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,787,938	V685I	probably benign	Het
Apba3	T	C	10: 81,273,112	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Ash1l	C	T	3: 88,983,264	L817F	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Ces1a	A	G	8: 93,039,551	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,179,489	V345I	probably damaging	Het
Ckmt2	T	A	13: 91,855,845	I345F	probably benign	Het
Col5a2	T	A	1: 45,376,804	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,144,035	N1492S	probably damaging	Het
Dock3	T	C	9: 106,993,544	N557S	probably benign	Het
Edem2	G	A	2: 155,702,559	R424C	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
Eya1	A	T	1: 14,270,774	F163I	probably damaging	Het
Ezh1	A	C	11: 101,208,185	S290A	probably benign	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Fat4	A	T	3: 38,981,484	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,506,640	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,714,241	C173W	probably damaging	Het
Gcc2	T	A	10: 58,269,540	C99*	probably null	Het
Gcn1l1	A	T	5: 115,598,825	M1276L	probably benign	Het
Gm14124	T	A	2: 150,267,899	C170S	unknown	Het
Gm266	T	G	12: 111,485,682	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,673,012	E264V	probably damaging	Het
Ift74	A	G	4: 94,627,259	T138A	probably benign	Het
Ikzf1	T	G	11: 11,769,473	H480Q	probably damaging	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,739,359	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,759,595	M4T	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lrwd1	T	A	5: 136,130,478	Y431F	probably damaging	Het
Madd	A	G	2: 91,164,022	V884A	probably damaging	Het
Maz	C	A	7: 127,025,505	C281F	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mllt10	A	G	2: 18,162,569	N435S	probably benign	Het
Mrm3	T	C	11: 76,244,521	M186T	possibly damaging	Het
Naprt	T	C	15: 75,891,788	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,546,909	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,133,265	N157I	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Obscn	C	T	11: 59,131,658	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,436,212	E137G	probably damaging	Het
Pdk2	A	G	11: 95,027,262	Y382H	probably damaging	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pik3r2	T	C	8: 70,769,385	I585V	probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,320,970	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,469,450	N9D	probably damaging	Het
Prex2	T	A	1: 11,186,713	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,667,395	M236L	possibly damaging	Het
Prkar2b	T	A	12: 31,967,280	N257I	probably damaging	Het
Prkcd	A	G	14: 30,605,851	C208R	probably damaging	Het
Prkch	T	A	12: 73,702,516	S347T	probably benign	Het
Prr12	A	G	7: 45,046,082	V1320A	unknown	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptx3	T	A	3: 66,224,766	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rgr	T	A	14: 37,038,852		probably null	Het
Rgs7	T	A	1: 175,091,073	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,817,549	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,149,567	E781V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Rusc1	T	C	3: 89,091,707	D256G	probably benign	Het
Scap	T	C	9: 110,381,273	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Slc24a2	C	T	4: 86,991,355	V664I	probably benign	Het
Stim2	A	G	5: 54,104,477	Q237R	probably damaging	Het
Synpo2	T	A	3: 123,079,888	H1143L	probably benign	Het
Syt4	A	G	18: 31,440,467	Y332H	probably damaging	Het
Tcf23	G	A	5: 30,973,575	D186N	probably benign	Het
Tcf3	C	A	10: 80,410,206	G628W	probably damaging	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,975,629	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,622,551	E92G	probably damaging	Het
Ttn	A	T	2: 76,747,008	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,145,027	E587G	probably benign	Het
Ubr4	A	T	4: 139,429,611	K2316*	probably null	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Vat1	A	T	11: 101,465,742	V131E	probably damaging	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Zfp592	G	A	7: 81,024,796	V503M	probably damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	probably damaging	Het
Zscan30	A	G	18: 23,971,116		noncoding transcript	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
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
R7000:Bmp10	UTSW	6	87434193	missense	probably benign	0.02
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'- TATGAAGCCTATGAGTGCCGG -3'
(R):5'- ATAACTGGATGGGACTGGATTG -3'

Sequencing Primer
(F):5'- GTGTGTGTAACTACCCTCTGGC -3'
(R):5'- GTGGAGCAAAATACACATTTCCTAC -3'

Posted On

2014-09-18