Mutagenetix > Incidental Mutation

Incidental Mutation 'R7834:Bmp1'

605879

Institutional Source

Beutler Lab

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

MMRRC Submission

045888-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70711998-70757674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70746005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 153 (R153W)

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: R153W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: R153W

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 damaging
Transcript: ENSMUST00000226246
AA Change: R153W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226906
AA Change: R153W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227944
AA Change: R16W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,115,068 (GRCm39)	I626N	probably damaging	Het
Abcc12	T	A	8: 87,258,179 (GRCm39)	Y779F	possibly damaging	Het
Abcc12	C	T	8: 87,284,859 (GRCm39)	C252Y	probably damaging	Het
Adam22	A	T	5: 8,180,535 (GRCm39)	C521S	probably damaging	Het
Adcy5	C	A	16: 34,977,570 (GRCm39)	H368N	probably benign	Het
Akap13	T	A	7: 75,392,390 (GRCm39)	I2411N	possibly damaging	Het
Ankrd12	A	G	17: 66,294,347 (GRCm39)	F339S	probably damaging	Het
Bmp6	T	C	13: 38,653,643 (GRCm39)	F237L	probably damaging	Het
Cacna1c	A	G	6: 118,587,542 (GRCm39)	S1628P		Het
Ccdc141	T	C	2: 76,889,889 (GRCm39)	R468G	possibly damaging	Het
Cdc40	A	T	10: 40,758,945 (GRCm39)	S43T	probably benign	Het
Celf4	A	G	18: 25,886,542 (GRCm39)	M48T	probably benign	Het
Clec4g	A	T	8: 3,766,500 (GRCm39)	M267K	probably damaging	Het
Col6a1	G	T	10: 76,545,762 (GRCm39)	S903R	unknown	Het
Creg2	A	G	1: 39,689,802 (GRCm39)	F103L	probably damaging	Het
Cul9	T	C	17: 46,836,630 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,414,774 (GRCm39)	A756V	probably benign	Het
Diaph1	G	A	18: 37,986,762 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,054,044 (GRCm39)	G2550D	probably damaging	Het
Dst	G	T	1: 34,233,186 (GRCm39)	R3396I	probably benign	Het
Dync2h1	T	C	9: 7,118,953 (GRCm39)	T2171A	probably benign	Het
Fgd2	C	T	17: 29,583,925 (GRCm39)	T113M	probably damaging	Het
Galnt6	G	T	15: 100,611,984 (GRCm39)	S219R	probably damaging	Het
Gbp6	T	A	5: 105,421,131 (GRCm39)	E558V	probably benign	Het
Gnas	A	T	2: 174,140,783 (GRCm39)	K377*	probably null	Het
Hars2	T	C	18: 36,922,634 (GRCm39)	I389T	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,091 (GRCm39)	I123V	possibly damaging	Het
Igkv6-14	A	T	6: 70,411,992 (GRCm39)	N97K	possibly damaging	Het
Isg20	T	C	7: 78,569,867 (GRCm39)	L168P	probably damaging	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnn3	A	G	3: 89,428,661 (GRCm39)	I296V	probably damaging	Het
Kif18a	G	A	2: 109,127,119 (GRCm39)	R351H	probably damaging	Het
Klra5	A	T	6: 129,876,253 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,492 (GRCm39)	T180A	probably benign	Het
Lhx8	T	C	3: 154,017,174 (GRCm39)	S323G	probably null	Het
Lpcat2	T	A	8: 93,644,729 (GRCm39)	L506H	possibly damaging	Het
Map2	A	G	1: 66,455,647 (GRCm39)	E1447G	probably damaging	Het
Mapk8ip2	A	T	15: 89,345,576 (GRCm39)	I779F	probably damaging	Het
Mcmdc2	G	A	1: 9,982,399 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,949,182 (GRCm39)	E217K	probably damaging	Het
Muc5b	G	A	7: 141,412,807 (GRCm39)	G1918R	unknown	Het
Mug2	T	C	6: 122,013,241 (GRCm39)	I336T	probably benign	Het
Myh10	T	C	11: 68,676,652 (GRCm39)	V878A	probably damaging	Het
Nomo1	T	C	7: 45,706,162 (GRCm39)		probably null	Het
Ogdhl	T	A	14: 32,062,666 (GRCm39)	I584N	probably benign	Het
Pdzrn3	G	A	6: 101,128,156 (GRCm39)	R837C	probably damaging	Het
Pkhd1	A	G	1: 20,382,273 (GRCm39)	M2626T	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Pnliprp2	T	C	19: 58,762,591 (GRCm39)	S399P	probably benign	Het
Prelp	T	C	1: 133,842,510 (GRCm39)	T212A	probably damaging	Het
Ptpn13	T	A	5: 103,610,014 (GRCm39)	S4T	probably damaging	Het
Ptprb	A	C	10: 116,175,329 (GRCm39)	E821A	probably benign	Het
Rabgap1	T	C	2: 37,359,419 (GRCm39)		probably benign	Het
Reln	C	T	5: 22,244,633 (GRCm39)	V782M	possibly damaging	Het
Rpl3l	T	C	17: 24,952,437 (GRCm39)	V52A	possibly damaging	Het
Rrp1b	T	C	17: 32,270,698 (GRCm39)	V219A	probably benign	Het
Rtn1	T	A	12: 72,350,806 (GRCm39)	I468F	probably damaging	Het
Safb	T	A	17: 56,900,881 (GRCm39)	M129K	unknown	Het
Sall1	C	A	8: 89,760,002 (GRCm39)	S34I	probably benign	Het
Slc2a8	C	T	2: 32,866,919 (GRCm39)	G227D	probably damaging	Het
Slco4a1	G	T	2: 180,107,470 (GRCm39)	V295L	probably benign	Het
Slfn5	A	T	11: 82,851,278 (GRCm39)	Q525L	possibly damaging	Het
Speg	C	T	1: 75,361,571 (GRCm39)	T195M	probably damaging	Het
Syne2	A	T	12: 76,014,021 (GRCm39)	T3071S	probably benign	Het
Syngr1	G	T	15: 79,995,818 (GRCm39)	W119L	probably damaging	Het
Tenm2	A	G	11: 35,915,681 (GRCm39)	L1951P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Ush2a	G	A	1: 188,465,637 (GRCm39)	W2735*	probably null	Het
Usp17lb	T	A	7: 104,490,718 (GRCm39)	T70S	probably damaging	Het
Vmn2r6	T	G	3: 64,445,443 (GRCm39)	N761H	probably damaging	Het
Vps13d	A	T	4: 144,835,143 (GRCm39)	I2741K		Het
Wdr38	A	T	2: 38,890,196 (GRCm39)	Q110L	possibly damaging	Het
Zfp872	A	G	9: 22,111,406 (GRCm39)	K295R	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
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
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'- CAGGGTCTGAGCCATATCAATG -3'
(R):5'- TGTGAGCCTATACCTGGCCTTG -3'

Sequencing Primer
(F):5'- CCAGCTTAGGGGCAGCAAG -3'
(R):5'- ATACCTGGCCTTGGCCTTG -3'

Posted On

2019-12-20