Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02065:Bmp1'

185606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02065

Quality Score

Status

Chromosome

Chromosomal Location

70474558-70520234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70486220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 725 (N725K)

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: N725K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: N725K

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

probably benign
Transcript: ENSMUST00000226906

Predicted Effect

probably benign
Transcript: ENSMUST00000227944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228501

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,312,901	E770K	possibly damaging	Het
Abhd17a	C	A	10: 80,586,561	A22S	probably benign	Het
Actbl2	A	G	13: 111,255,691	T187A	probably benign	Het
Adgrl3	G	A	5: 81,512,217	G278R	probably damaging	Het
Apoh	C	A	11: 108,414,305		probably benign	Het
Atp2b2	A	G	6: 113,813,867	F192S	probably damaging	Het
Bdh1	T	C	16: 31,449,936	I163T	possibly damaging	Het
Bmp2	T	A	2: 133,560,924	F132I	probably benign	Het
Bpifb5	T	C	2: 154,227,183	L140P	probably damaging	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Carmil3	T	C	14: 55,493,822		probably benign	Het
Ccdc57	T	C	11: 120,873,760	T730A	possibly damaging	Het
Cdh10	G	T	15: 19,013,256	K647N	probably damaging	Het
Cdh17	A	C	4: 11,771,373		probably benign	Het
Cep126	A	G	9: 8,099,924	S870P	probably benign	Het
Col6a4	T	C	9: 106,077,103	T346A	probably damaging	Het
Csmd3	A	C	15: 47,666,628	V2592G	probably damaging	Het
Dnajc16	A	T	4: 141,776,933	F239I	probably damaging	Het
F5	G	A	1: 164,190,126	V591M	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fchsd2	T	G	7: 101,177,222		probably null	Het
Flad1	A	T	3: 89,408,987	D89E	probably damaging	Het
Fsd1	C	A	17: 55,996,499	P457Q	probably damaging	Het
Gm21985	A	G	2: 112,357,584	D1012G	possibly damaging	Het
Gon4l	A	G	3: 88,857,210	D366G	probably null	Het
Hadha	A	G	5: 30,142,845		probably benign	Het
Kdr	A	G	5: 75,961,853		probably benign	Het
Kyat3	A	G	3: 142,720,375	K24R	probably benign	Het
Map3k21	A	G	8: 125,941,658	D661G	probably benign	Het
Mical1	A	T	10: 41,484,411	K615N	possibly damaging	Het
Ncor1	T	C	11: 62,419,609	K204E	possibly damaging	Het
Nmral1	T	A	16: 4,716,482	I32F	probably benign	Het
Nrros	T	C	16: 32,144,674	D175G	possibly damaging	Het
Olfr1329	G	A	4: 118,916,771	T232I	probably benign	Het
Olfr536	T	C	7: 140,504,164	I98M	probably benign	Het
Ryr2	A	G	13: 11,572,257	F4713L	possibly damaging	Het
Serpinb1b	G	A	13: 33,091,318	G142D	possibly damaging	Het
Slc10a1	A	G	12: 80,960,474	S178P	possibly damaging	Het
Spint1	G	A	2: 119,238,217	R144H	probably benign	Het
Sult6b1	C	T	17: 78,889,075	G213R	probably damaging	Het
Themis3	G	T	17: 66,555,905	H353N	probably benign	Het
Tpr	T	C	1: 150,413,774	S619P	probably benign	Het
Ttn	A	T	2: 76,814,790	V11161E	probably damaging	Het
Usp13	G	A	3: 32,933,165	V837I	probably damaging	Het
Usp25	T	C	16: 77,083,782	V677A	probably benign	Het
Wdr62	A	G	7: 30,243,469	V1001A	possibly damaging	Het
Whrn	A	T	4: 63,418,585	I580N	possibly damaging	Het
Wls	T	A	3: 159,911,356	V344D	probably damaging	Het
Zan	A	T	5: 137,386,960	Y5070*	probably null	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	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
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

Posted On

2014-05-07