Mutagenetix > Incidental Mutations

Incidental Mutation 'R1604:Bmp1'

176357

Institutional Source

Beutler Lab

Gene Symbol

Bmp1

Ensembl Gene

ENSMUSG00000022098

Gene Name

bone morphogenetic protein 1

Synonyms

MMRRC Submission

039641-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70474558-70520234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70508004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 247 (Q247R)

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: Q247R

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: Q247R

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: ENSMUST00000226539

Predicted Effect

probably benign
Transcript: ENSMUST00000226906

Predicted Effect

probably benign
Transcript: ENSMUST00000227944

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.1%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,471	M212V	probably benign	Het
Aldoart2	A	G	12: 55,565,620	D110G	probably damaging	Het
Angptl2	T	C	2: 33,243,773	M369T	possibly damaging	Het
Anks3	C	T	16: 4,948,253	V151M	probably damaging	Het
Arl6ip6	T	C	2: 53,192,496	L125P	probably damaging	Het
Ccdc30	A	G	4: 119,331,596	I491T	probably damaging	Het
Cdhr1	T	A	14: 37,095,093	I104F	probably benign	Het
Cdk17	G	T	10: 93,232,498	M372I	probably damaging	Het
Cyp2c54	A	G	19: 40,070,343	V215A	probably benign	Het
D430041D05Rik	T	A	2: 104,205,142	I1614F	probably damaging	Het
Ddx55	A	G	5: 124,559,306	N244D	probably damaging	Het
Dopey2	G	T	16: 93,762,570	V617F	probably benign	Het
Erbb4	G	T	1: 68,346,569	A287E	possibly damaging	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Gad2	T	C	2: 22,623,840		probably null	Het
Gm17421	G	A	12: 113,369,535		noncoding transcript	Het
Gm9894	T	A	13: 67,764,889		noncoding transcript	Het
Gnpat	T	C	8: 124,876,961	S193P	probably damaging	Het
Gpr20	C	T	15: 73,696,004	V179M	probably damaging	Het
Hdgf	T	A	3: 87,914,040		probably null	Het
Itgb8	A	T	12: 119,202,530	L89M	probably damaging	Het
Lnx2	T	C	5: 147,029,325	D328G	probably benign	Het
Lrguk	A	G	6: 34,072,370	T341A	possibly damaging	Het
Map1b	A	G	13: 99,429,572	S2214P	unknown	Het
Mms22l	T	C	4: 24,502,804	F131L	probably damaging	Het
Msmo1	A	G	8: 64,727,655	I75T	probably damaging	Het
Olfr444	G	A	6: 42,955,716	A73T	possibly damaging	Het
Olfr639	G	T	7: 104,011,955	A249E	probably damaging	Het
Olfr891	A	G	9: 38,180,349	V158A	probably benign	Het
Olfr924	T	G	9: 38,848,704	F197V	probably benign	Het
Olfr934	A	T	9: 38,982,618	M142K	probably benign	Het
Pkhd1l1	C	T	15: 44,467,367	R113*	probably null	Het
Polr2m	T	C	9: 71,483,677	D81G	probably damaging	Het
Ppp1r15b	T	A	1: 133,132,549	M268K	probably benign	Het
Ptprcap	T	A	19: 4,156,074	L52*	probably null	Het
Rasgrp2	C	T	19: 6,407,057	T277I	possibly damaging	Het
Rrbp1	T	C	2: 143,989,390	N286D	probably damaging	Het
Scml2	G	T	X: 161,231,446	E566D	possibly damaging	Het
Scrib	A	C	15: 76,048,240	S1557A	probably damaging	Het
Sergef	C	A	7: 46,443,359	V409L	probably benign	Het
Slc6a13	A	G	6: 121,332,369	M280V	probably benign	Het
Slc9a8	C	T	2: 167,471,432	P409S	probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,700,943		probably benign	Het
Spc25	T	C	2: 69,205,154	D4G	probably damaging	Het
Specc1	C	T	11: 62,043,057	R88C	probably damaging	Het
Srsf11	C	T	3: 158,019,311		probably null	Het
Stt3b	T	C	9: 115,250,927	E639G	probably damaging	Het
Sult3a1	A	C	10: 33,866,620	E81A	probably damaging	Het
Taf1b	G	A	12: 24,556,624	G481D	probably benign	Het
Tgm4	T	C	9: 123,045,064	V123A	probably benign	Het
Tie1	G	T	4: 118,474,407	H973N	probably damaging	Het
Tmem117	C	T	15: 95,094,544	R362W	probably damaging	Het
Txnip	A	T	3: 96,558,961	Q107L	probably benign	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Vcan	A	G	13: 89,689,661	V1628A	probably benign	Het
Vmn2r115	T	A	17: 23,345,271	M139K	probably benign	Het
Wwp1	A	G	4: 19,659,709	V193A	probably benign	Het
Zcchc8	C	T	5: 123,700,658	A606T	probably benign	Het
Zfp131	G	A	13: 119,768,780	L371F	probably damaging	Het
Zfp518b	T	C	5: 38,673,606	D352G	probably damaging	Het
Zfp784	A	G	7: 5,036,454		probably benign	Het
Zfp940	A	T	7: 29,846,075	F136I	probably benign	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
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
X0028:Bmp1	UTSW	14	70508537	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGCAGAAAAGCCTGGAGAACTTG -3'
(R):5'- CTGCCATTGATATGGCTCAGACCC -3'

Sequencing Primer
(F):5'- GCCTGGAGAACTTGCTGAAG -3'
(R):5'- CTGGCAAAAAGCCTGCG -3'

Posted On

2014-04-24