Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Bmp1'

199418

Institutional Source

Beutler Lab

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70711998-70757674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70723705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 710 (D710E)

Ref Sequence

ENSEMBL: ENSMUSP00000022693 (fasta)

Gene Model

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

AlphaFold

P98063

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022693
AA Change: D710E

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: D710E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,265,995 (GRCm39)	Q1445K	probably benign	Het
Acacb	A	T	5: 114,328,148 (GRCm39)	M303L	possibly damaging	Het
Actl9	T	C	17: 33,652,096 (GRCm39)	V52A	probably damaging	Het
Adam7	T	C	14: 68,735,899 (GRCm39)	T781A	probably benign	Het
Agpat4	T	C	17: 12,435,615 (GRCm39)	V293A	probably benign	Het
Ank1	T	A	8: 23,601,479 (GRCm39)		probably benign	Het
Atp1a1	C	A	3: 101,492,115 (GRCm39)	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,527,992 (GRCm39)	F172L	probably damaging	Het
Cep126	A	T	9: 8,099,762 (GRCm39)	I924N	probably benign	Het
Chek2	G	T	5: 111,019,968 (GRCm39)	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,378 (GRCm39)	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,888,626 (GRCm39)		probably null	Het
Col1a1	A	T	11: 94,835,241 (GRCm39)		probably benign	Het
Ctbp2	T	C	7: 132,600,653 (GRCm39)	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,421,543 (GRCm39)	D203G	probably benign	Het
Cyld	C	T	8: 89,458,295 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,302,455 (GRCm39)	I84F	probably damaging	Het
Dennd3	T	A	15: 73,409,267 (GRCm39)		probably benign	Het
Desi2	A	C	1: 178,084,217 (GRCm39)		probably benign	Het
Dmxl1	T	A	18: 50,026,511 (GRCm39)	L1873*	probably null	Het
Dmxl1	T	A	18: 50,036,055 (GRCm39)	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,370,440 (GRCm39)	N880S	possibly damaging	Het
F10	T	C	8: 13,100,764 (GRCm39)	L214P	probably damaging	Het
F5	G	A	1: 164,001,719 (GRCm39)	V141M	probably damaging	Het
Fam135a	A	T	1: 24,065,734 (GRCm39)	S1022T	possibly damaging	Het
Fam13b	A	T	18: 34,620,187 (GRCm39)	N232K	probably benign	Het
Fyco1	T	C	9: 123,648,157 (GRCm39)	E1259G	probably benign	Het
Gak	A	T	5: 108,724,448 (GRCm39)	D1087E	probably benign	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,962 (GRCm39)		noncoding transcript	Het
Gpr25	A	G	1: 136,187,866 (GRCm39)	V249A	probably benign	Het
Hcn3	T	C	3: 89,055,426 (GRCm39)	H607R	probably damaging	Het
Hdac4	T	A	1: 91,875,257 (GRCm39)	T905S	probably benign	Het
Itgad	T	C	7: 127,804,279 (GRCm39)	S86P	probably benign	Het
Itgb4	G	T	11: 115,879,744 (GRCm39)	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,779,979 (GRCm39)	T284S	probably benign	Het
Klhl22	T	A	16: 17,594,888 (GRCm39)	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mybpc2	C	A	7: 44,163,099 (GRCm39)	V484L	probably benign	Het
Noa1	A	T	5: 77,454,221 (GRCm39)	V473E	probably benign	Het
Nwd1	C	G	8: 73,393,463 (GRCm39)	S242C	possibly damaging	Het
Or55b10	C	A	7: 102,143,247 (GRCm39)	C245F	probably damaging	Het
Or7e174	A	G	9: 20,012,796 (GRCm39)	H247R	probably damaging	Het
Otof	A	T	5: 30,543,815 (GRCm39)	W535R	probably damaging	Het
Peg3	T	C	7: 6,712,084 (GRCm39)	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,577,529 (GRCm39)	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,994,625 (GRCm39)		probably null	Het
Plce1	G	T	19: 38,705,282 (GRCm39)	A896S	possibly damaging	Het
Prim1	T	C	10: 127,851,193 (GRCm39)	Y26H	probably damaging	Het
Prr12	T	A	7: 44,697,780 (GRCm39)	T712S	unknown	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,740,021 (GRCm39)	E409G	probably benign	Het
Rabep1	A	G	11: 70,795,467 (GRCm39)	N274S	probably damaging	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rec114	A	G	9: 58,560,389 (GRCm39)	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,587,381 (GRCm39)	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,280,239 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 55,561,233 (GRCm39)	H566R	probably benign	Het
Slc9c1	A	G	16: 45,373,291 (GRCm39)	T290A	probably benign	Het
Smarcc1	T	A	9: 110,014,888 (GRCm39)		probably benign	Het
Srp54b	T	A	12: 55,299,544 (GRCm39)		probably null	Het
Stambpl1	C	G	19: 34,204,121 (GRCm39)	N70K	probably damaging	Het
Synj1	T	C	16: 90,761,118 (GRCm39)	K710E	probably damaging	Het
Tenm3	T	A	8: 48,763,669 (GRCm39)	D795V	probably damaging	Het
Tgm2	T	C	2: 157,976,277 (GRCm39)	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,132,895 (GRCm39)	A104S	probably damaging	Het
Top1mt	A	G	15: 75,538,100 (GRCm39)		probably null	Het
Tpgs1	T	A	10: 79,511,428 (GRCm39)	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,851,428 (GRCm39)	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,676,193 (GRCm39)	I197V	probably damaging	Het
Ube3b	A	G	5: 114,525,506 (GRCm39)	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,530,285 (GRCm39)	S164T	probably benign	Het
Zfp607a	G	T	7: 27,577,884 (GRCm39)	C318F	probably damaging	Het

Other mutations in Bmp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Bmp1	APN	14	70,729,901 (GRCm39)	missense	probably damaging	1.00
IGL02065:Bmp1	APN	14	70,727,547 (GRCm39)	missense	probably damaging	0.99
IGL02065:Bmp1	APN	14	70,723,660 (GRCm39)	missense	probably damaging	0.97
IGL02349:Bmp1	APN	14	70,744,989 (GRCm39)	missense	possibly damaging	0.61
IGL02486:Bmp1	APN	14	70,742,216 (GRCm39)	missense	possibly damaging	0.48
PIT4519001:Bmp1	UTSW	14	70,727,469 (GRCm39)	missense	possibly damaging	0.65
R0394:Bmp1	UTSW	14	70,727,474 (GRCm39)	missense	probably damaging	0.99
R1371:Bmp1	UTSW	14	70,729,906 (GRCm39)	missense	probably damaging	1.00
R1604:Bmp1	UTSW	14	70,745,444 (GRCm39)	missense	possibly damaging	0.66
R1834:Bmp1	UTSW	14	70,746,271 (GRCm39)	missense	possibly damaging	0.73
R2008:Bmp1	UTSW	14	70,729,906 (GRCm39)	missense	probably damaging	1.00
R2197:Bmp1	UTSW	14	70,723,712 (GRCm39)	missense	possibly damaging	0.83
R3157:Bmp1	UTSW	14	70,729,547 (GRCm39)	missense	possibly damaging	0.63
R4397:Bmp1	UTSW	14	70,727,982 (GRCm39)	splice site	probably null
R4609:Bmp1	UTSW	14	70,715,406 (GRCm39)	missense	probably benign	0.00
R4613:Bmp1	UTSW	14	70,745,963 (GRCm39)	missense	probably damaging	1.00
R4675:Bmp1	UTSW	14	70,730,284 (GRCm39)	missense	probably damaging	0.99
R4796:Bmp1	UTSW	14	70,729,513 (GRCm39)	splice site	probably null
R4884:Bmp1	UTSW	14	70,712,655 (GRCm39)	missense	probably benign	0.01
R4905:Bmp1	UTSW	14	70,728,802 (GRCm39)	missense	probably benign	0.06
R5088:Bmp1	UTSW	14	70,723,659 (GRCm39)	missense	possibly damaging	0.84
R5225:Bmp1	UTSW	14	70,717,605 (GRCm39)	missense	probably damaging	0.97
R5271:Bmp1	UTSW	14	70,745,568 (GRCm39)	missense	probably benign	0.34
R5625:Bmp1	UTSW	14	70,723,606 (GRCm39)	missense	probably benign	0.19
R5653:Bmp1	UTSW	14	70,727,534 (GRCm39)	missense	probably benign	0.00
R6155:Bmp1	UTSW	14	70,745,447 (GRCm39)	missense	probably damaging	1.00
R6295:Bmp1	UTSW	14	70,728,823 (GRCm39)	missense	possibly damaging	0.88
R6618:Bmp1	UTSW	14	70,728,808 (GRCm39)	missense	probably damaging	1.00
R6649:Bmp1	UTSW	14	70,728,058 (GRCm39)	missense	probably damaging	1.00
R6653:Bmp1	UTSW	14	70,728,058 (GRCm39)	missense	probably damaging	1.00
R6951:Bmp1	UTSW	14	70,746,298 (GRCm39)	missense	probably benign	0.26
R6983:Bmp1	UTSW	14	70,745,647 (GRCm39)	missense	probably damaging	0.96
R7207:Bmp1	UTSW	14	70,717,000 (GRCm39)	missense	possibly damaging	0.56
R7500:Bmp1	UTSW	14	70,727,562 (GRCm39)	missense	probably benign	0.44
R7716:Bmp1	UTSW	14	70,715,362 (GRCm39)	nonsense	probably null
R7749:Bmp1	UTSW	14	70,730,284 (GRCm39)	missense	probably damaging	1.00
R7763:Bmp1	UTSW	14	70,729,524 (GRCm39)	missense	probably damaging	1.00
R7834:Bmp1	UTSW	14	70,746,005 (GRCm39)	missense	probably damaging	1.00
R8232:Bmp1	UTSW	14	70,757,329 (GRCm39)	missense	probably damaging	0.97
R8490:Bmp1	UTSW	14	70,727,573 (GRCm39)	missense	possibly damaging	0.94
R8827:Bmp1	UTSW	14	70,728,082 (GRCm39)	missense	probably damaging	1.00
R8945:Bmp1	UTSW	14	70,727,630 (GRCm39)	missense	probably damaging	1.00
R9178:Bmp1	UTSW	14	70,727,613 (GRCm39)	missense	possibly damaging	0.78
R9228:Bmp1	UTSW	14	70,757,338 (GRCm39)	missense	probably benign
R9621:Bmp1	UTSW	14	70,715,306 (GRCm39)	missense	probably benign	0.29
R9652:Bmp1	UTSW	14	70,715,360 (GRCm39)	missense	probably damaging	1.00
X0028:Bmp1	UTSW	14	70,745,977 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTTCCCTTGCTCAGGATGGAGATG -3'
(R):5'- ATGGTAGAGGTTCCCATGCTGGTC -3'

Sequencing Primer
(F):5'- TGTGAGGTGCTCAGCAAGC -3'
(R):5'- TGGTCAGCTCCAGACCC -3'

Posted On

2014-05-23