Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Bmp1'

735405

Institutional Source

Beutler Lab

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70711998-70757674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70715360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 925 (D925G)

Ref Sequence

ENSEMBL: ENSMUSP00000022693 (fasta)

Gene Model

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

AlphaFold

P98063

Predicted Effect

probably damaging
Transcript: ENSMUST00000022693
AA Change: D925G

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

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: D925G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,790,848 (GRCm39)	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	possibly 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
R1732:Bmp1	UTSW	14	70,723,705 (GRCm39)	missense	possibly damaging	0.67
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
X0028:Bmp1	UTSW	14	70,745,977 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTAGCTTCTCAGAGGGCCG -3'
(R):5'- TGGTGATCAATCTTGTCATCCAC -3'

Sequencing Primer
(F):5'- TCAGAGGGCCGGGCAAG -3'
(R):5'- GTCATCCACTCCCTGCAGAG -3'

Posted On

2022-11-14