Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Bmp1'

219292

Institutional Source

Beutler Lab

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

MMRRC Submission

040017-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70474558-70520234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70492466 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 466 (C466Y)

Ref Sequence

ENSEMBL: ENSMUSP00000022693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022693] [ENSMUST00000226246] [ENSMUST00000226906] [ENSMUST00000227944]

AlphaFold

P98063

Predicted Effect

probably damaging
Transcript: ENSMUST00000022693
AA Change: C466Y

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

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: C466Y

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: ENSMUST00000226246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226601

Predicted Effect

probably benign
Transcript: ENSMUST00000226906

Predicted Effect

probably benign
Transcript: ENSMUST00000227944

Meta Mutation Damage Score

0.9733

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	C	T	5: 98,737,702	T156I	possibly damaging	Het
1700061G19Rik	A	G	17: 56,886,478	N608S	probably benign	Het
2510039O18Rik	T	A	4: 147,941,577	C185S	probably benign	Het
Actl6b	T	A	5: 137,569,330	S409T	probably damaging	Het
Adgrf2	T	C	17: 42,710,122	T604A	probably damaging	Het
Adprhl2	T	A	4: 126,317,344	D260V	probably benign	Het
Akap9	A	G	5: 3,960,131	E296G	possibly damaging	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,905,897	W236R	probably damaging	Het
Atp11b	A	G	3: 35,855,122	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,432,726	T551S	probably benign	Het
Atp7b	A	T	8: 22,027,980	C281S	probably damaging	Het
Cabin1	T	C	10: 75,734,976		probably null	Het
Capn9	T	G	8: 124,591,685	C97G	probably damaging	Het
Cbfa2t3	A	G	8: 122,643,293	V147A	probably damaging	Het
Ccdc83	T	A	7: 90,244,141	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,476	R357L	possibly damaging	Het
Celf1	A	T	2: 91,010,408	N367I	probably damaging	Het
Cep350	T	C	1: 155,914,721	I1363V	probably benign	Het
Colec12	T	A	18: 9,874,813	D696E	probably benign	Het
Ctbp1	C	T	5: 33,250,986	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,525,392	I293T	probably damaging	Het
D430042O09Rik	C	G	7: 125,860,566	H1189D	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dctn1	C	T	6: 83,189,956	T263I	probably damaging	Het
Ddx49	A	T	8: 70,295,444	V317E	probably damaging	Het
Edil3	G	A	13: 88,944,953		probably null	Het
Egflam	A	T	15: 7,237,804	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,819,865		probably null	Het
Gigyf2	T	G	1: 87,374,113		probably null	Het
Gm5346	A	T	8: 43,627,037	V50D	probably benign	Het
Heatr4	A	G	12: 83,979,740	S248P	probably benign	Het
Hist1h1c	C	G	13: 23,739,409	S187R	probably benign	Het
Hoxd1	A	T	2: 74,764,180	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,092	L305Q	probably damaging	Het
Itch	T	A	2: 155,210,459	C660S	possibly damaging	Het
Ivd	A	T	2: 118,871,500	I138F	probably benign	Het
Lcn4	G	T	2: 26,671,216	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 120,012,665	Y192H	probably damaging	Het
Mn1	T	C	5: 111,418,857	L231P	probably damaging	Het
Morc1	A	G	16: 48,565,646	D544G	probably benign	Het
Mthfd1	C	A	12: 76,297,519	T331K	probably damaging	Het
Myo18b	T	A	5: 112,873,557	Y546F	probably benign	Het
Nod1	T	C	6: 54,939,325	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,232,973	V563A	probably damaging	Het
Olfr1253	A	T	2: 89,752,073	C252S	possibly damaging	Het
Olfr46	T	C	7: 140,610,585	Y140H	probably damaging	Het
Olfr497	T	C	7: 108,423,182	F204L	probably benign	Het
Olfr904	T	C	9: 38,464,241	S67P	probably damaging	Het
Olfr998	A	G	2: 85,591,422	N294S	probably damaging	Het
Orc3	T	A	4: 34,611,049		probably null	Het
Otog	T	C	7: 46,264,074	V777A	probably benign	Het
Pbxip1	G	T	3: 89,448,713	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,478,263	D92G	probably damaging	Het
Phkb	T	A	8: 86,056,467	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,152,621	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,199,459	V3287A	probably damaging	Het
Polq	T	A	16: 37,062,482	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,585,757	S195P	probably damaging	Het
Prdm2	T	C	4: 143,134,947	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,825,905	T268S	possibly damaging	Het
Scd2	A	T	19: 44,303,171	T350S	probably benign	Het
Scn7a	T	A	2: 66,687,747	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,979,029	L259Q	probably damaging	Het
Senp6	A	G	9: 80,126,398	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,304,303		probably null	Het
Slx4	T	C	16: 3,979,921	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,185	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,540,511	T12M	probably benign	Het
Synj2	G	T	17: 5,996,946	E20D	probably damaging	Het
Tchh	G	T	3: 93,445,974	R907L	unknown	Het
Thsd1	A	G	8: 22,259,231	E645G	probably benign	Het
Tmem176b	A	T	6: 48,835,449	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,591,406		probably null	Het
Trim44	G	A	2: 102,400,377		probably benign	Het
Triml1	T	A	8: 43,130,605	R320W	probably damaging	Het
Trmt6	A	T	2: 132,806,909	C401*	probably null	Het
Trpv5	T	C	6: 41,659,728		probably null	Het
V1rd19	T	A	7: 24,003,301	L64*	probably null	Het
Vmn1r216	A	T	13: 23,099,491	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,860,500	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,801,713	V269A	probably benign	Het
Vps13d	A	T	4: 145,155,243	V1254D	probably benign	Het
Xpr1	T	C	1: 155,281,029		probably null	Het
Zan	T	A	5: 137,452,450	T1622S	unknown	Het
Zfp112	T	C	7: 24,126,751	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,513,125	P308L	possibly 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
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
R4609:Bmp1	UTSW	14	70477966	missense	probably benign	0.00
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
R8827:Bmp1	UTSW	14	70490642	missense	probably damaging	1.00
R8945:Bmp1	UTSW	14	70490190	missense	probably damaging	1.00
R9178:Bmp1	UTSW	14	70490173	missense	possibly damaging	0.78
R9228:Bmp1	UTSW	14	70519898	missense	probably benign
R9621:Bmp1	UTSW	14	70477866	missense	probably benign	0.29
R9652:Bmp1	UTSW	14	70477920	missense	probably damaging	1.00
X0028:Bmp1	UTSW	14	70508537	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTAGGAGTCAGGGGCTCTG -3'
(R):5'- TTCTCCATCAGGGACAGCAG -3'

Sequencing Primer
(F):5'- TCTGTCAGGGAAAGGGGCTC -3'
(R):5'- AGCAAGCGGGGTTATGTTG -3'

Posted On

2014-08-25