Mutagenetix > Incidental Mutations

Incidental Mutation 'R4609:Bmp1'

344545

Institutional Source

Beutler Lab

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

MMRRC Submission

041820-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70474558-70520234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70477966 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 910 (V910M)

Ref Sequence

ENSEMBL: ENSMUSP00000022693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022693] [ENSMUST00000226906] [ENSMUST00000227944]

Predicted Effect

probably benign
Transcript: ENSMUST00000022693
AA Change: V910M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: V910M

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
ZnMc	131	273	1.32e-54	SMART
CUB	327	439	4.35e-43	SMART
CUB	440	552	7.86e-50	SMART
EGF_CA	552	593	5.03e-11	SMART
CUB	596	708	1.13e-50	SMART
EGF_CA	708	748	4.81e-8	SMART
CUB	752	864	3.99e-51	SMART
CUB	865	981	7.35e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226906

Predicted Effect

probably benign
Transcript: ENSMUST00000227944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228501

Meta Mutation Damage Score

0.0830

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous targeted mutant embryos have reduced ossification of the skull, persistent herniation of the gut, abnormal collagen fibrils in the amnion, and die at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,494,169	D91G	unknown	Het
Adam10	T	C	9: 70,740,143	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,250,261	C183S	probably damaging	Het
Bbs10	A	G	10: 111,301,134	K703E	probably benign	Het
Brdt	G	A	5: 107,359,936	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,579	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267	D71V	possibly damaging	Het
Chml	A	T	1: 175,687,157	Y399*	probably null	Het
Clasp1	A	G	1: 118,503,035		probably benign	Het
Cntnap5b	G	A	1: 99,772,847		probably null	Het
Cpvl	A	T	6: 53,974,620		probably null	Het
Crocc2	G	A	1: 93,168,794	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,455,429	Y226C	probably damaging	Het
Dio3	G	T	12: 110,280,010	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,446,512	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,456,657	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999	Y223*	probably null	Het
Dpysl4	T	C	7: 139,098,621	V499A	probably damaging	Het
Ets2	A	T	16: 95,711,774	K101N	probably benign	Het
Fam160a2	A	G	7: 105,388,224	I384T	probably damaging	Het
Fbn2	A	T	18: 58,190,269	Y200*	probably null	Het
Fem1c	A	T	18: 46,505,948	I329N	probably damaging	Het
Gm8919	T	C	3: 11,659,470		noncoding transcript	Het
H2-Q5	A	T	17: 35,397,080	H206L	probably benign	Het
Hexa	T	C	9: 59,557,319	F164S	probably benign	Het
Hk1	G	T	10: 62,358,415		probably benign	Het
Ick	T	A	9: 78,167,789		probably benign	Het
Itih4	G	A	14: 30,901,669	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,405,068		probably null	Het
Krtap10-4	A	T	10: 77,826,796		probably benign	Het
Maml3	G	T	3: 51,855,592	H650Q	probably damaging	Het
Mief1	C	A	15: 80,248,253	P112Q	probably benign	Het
Morc3	A	G	16: 93,864,968	E472G	probably benign	Het
Nap1l1	T	A	10: 111,492,880	Y223*	probably null	Het
Nfix	A	T	8: 84,726,490	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,558,584	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,834,086	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,417,748	Y299F	probably benign	Het
Nnt	T	C	13: 119,357,536	I556V	possibly damaging	Het
Oasl2	A	T	5: 114,899,796	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,328,432	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,957,721	V431L	probably damaging	Het
Olfr507	A	T	7: 108,622,504	M231L	probably benign	Het
Olfr984	T	C	9: 40,100,806	H228R	possibly damaging	Het
Palb2	G	T	7: 122,124,723	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,505,796	M458I	probably benign	Het
Pde11a	T	C	2: 76,291,241	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,958,964	E347K	unknown	Het
Pou2af1	G	A	9: 51,238,225	V206I	possibly damaging	Het
Prr16	A	G	18: 51,118,067	D46G	possibly damaging	Het
Pus1	A	G	5: 110,780,318	M1T	probably null	Het
Pygm	T	A	19: 6,391,409	V566D	possibly damaging	Het
Rb1	T	A	14: 73,262,514		probably benign	Het
Rhoj	A	T	12: 75,400,206	K200*	probably null	Het
Rnf213	A	G	11: 119,437,695	I1985V	possibly damaging	Het
Sept11	G	T	5: 93,162,254	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,415,704	Y383C	probably damaging	Het
Sfpq	G	C	4: 127,021,611	Q65H	unknown	Het
Stard3nl	G	T	13: 19,370,264	A180E	probably damaging	Het
Tanc2	A	G	11: 105,910,240	N1094S	probably benign	Het
Trf	C	T	9: 103,211,985	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,594,827		probably benign	Het
Tubb3	A	G	8: 123,420,919	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,918,712	H135R	probably damaging	Het
Ugt1a10	A	T	1: 88,055,482	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 20,994,415	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,418,074	D580V	probably damaging	Het
Vps33b	A	G	7: 80,291,118	Y593C	probably benign	Het
Wdr19	A	G	5: 65,228,542	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,140,200	R853Q	probably damaging	Het
Wdr61	A	G	9: 54,728,179	V46A	probably benign	Het
Xirp1	T	C	9: 120,016,506	T1104A	probably benign	Het
Yipf1	G	A	4: 107,344,683		probably null	Het
Zbtb17	A	G	4: 141,466,498	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,680,542	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,454,043	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889	T1285M	probably damaging	Het

Other mutations in Bmp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Bmp1	APN	14	70492461	missense	probably damaging	1.00
IGL02065:Bmp1	APN	14	70486220	missense	probably damaging	0.97
IGL02065:Bmp1	APN	14	70490107	missense	probably damaging	0.99
IGL02349:Bmp1	APN	14	70507549	missense	possibly damaging	0.61
IGL02486:Bmp1	APN	14	70504776	missense	possibly damaging	0.48
PIT4519001:Bmp1	UTSW	14	70490029	missense	possibly damaging	0.65
R0394:Bmp1	UTSW	14	70490034	missense	probably damaging	0.99
R1371:Bmp1	UTSW	14	70492466	missense	probably damaging	1.00
R1604:Bmp1	UTSW	14	70508004	missense	possibly damaging	0.66
R1732:Bmp1	UTSW	14	70486265	missense	possibly damaging	0.67
R1834:Bmp1	UTSW	14	70508831	missense	possibly damaging	0.73
R2008:Bmp1	UTSW	14	70492466	missense	probably damaging	1.00
R2197:Bmp1	UTSW	14	70486272	missense	possibly damaging	0.83
R3157:Bmp1	UTSW	14	70492107	missense	possibly damaging	0.63
R4397:Bmp1	UTSW	14	70490542	splice site	probably null
R4613:Bmp1	UTSW	14	70508523	missense	probably damaging	1.00
R4675:Bmp1	UTSW	14	70492844	missense	probably damaging	0.99
R4796:Bmp1	UTSW	14	70492073	splice site	probably null
R4884:Bmp1	UTSW	14	70475215	missense	probably benign	0.01
R4905:Bmp1	UTSW	14	70491362	missense	probably benign	0.06
R5088:Bmp1	UTSW	14	70486219	missense	possibly damaging	0.84
R5225:Bmp1	UTSW	14	70480165	missense	probably damaging	0.97
R5271:Bmp1	UTSW	14	70508128	missense	probably benign	0.34
R5625:Bmp1	UTSW	14	70486166	missense	probably benign	0.19
R5653:Bmp1	UTSW	14	70490094	missense	probably benign	0.00
R6155:Bmp1	UTSW	14	70508007	missense	probably damaging	1.00
R6295:Bmp1	UTSW	14	70491383	missense	possibly damaging	0.88
R6618:Bmp1	UTSW	14	70491368	missense	probably damaging	1.00
R6649:Bmp1	UTSW	14	70490618	missense	probably damaging	1.00
R6653:Bmp1	UTSW	14	70490618	missense	probably damaging	1.00
R6951:Bmp1	UTSW	14	70508858	missense	probably benign	0.26
R6983:Bmp1	UTSW	14	70508207	missense	probably damaging	0.96
R7207:Bmp1	UTSW	14	70479560	missense	possibly damaging	0.56
R7500:Bmp1	UTSW	14	70490122	missense	probably benign	0.44
R7716:Bmp1	UTSW	14	70477922	nonsense	probably null
R7749:Bmp1	UTSW	14	70492844	missense	probably damaging	1.00
R7763:Bmp1	UTSW	14	70492084	missense	probably damaging	1.00
R7834:Bmp1	UTSW	14	70508565	missense	probably damaging	1.00
R8232:Bmp1	UTSW	14	70519889	missense	probably damaging	0.97
R8490:Bmp1	UTSW	14	70490133	missense	possibly damaging	0.94
X0028:Bmp1	UTSW	14	70508537	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCACTCAGCCTAGTACCCTAG -3'
(R):5'- ATCATCACACACTGATCGGTC -3'

Sequencing Primer
(F):5'- TAGTACCCTAGGTCTCCAGGGATG -3'
(R):5'- ATCGGTCATCAGTGGTGATCAATC -3'

Posted On

2015-09-25