Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Bmp1'

597112

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 #

R7749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70474558-70520234 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70492844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 416 (R416H)

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: R416H

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

SMART Domains

Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: R416H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	T	1: 134,390,512	M341L	probably benign	Het
Actr1a	A	T	19: 46,379,747	S254T	probably benign	Het
Adam12	G	A	7: 134,224,813	A22V	unknown	Het
Adarb2	A	G	13: 8,569,739	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,442,081	I59N	probably benign	Het
Ankrd50	C	T	3: 38,482,721	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,516		probably null	Het
Anks1	T	A	17: 28,038,141	I707N	probably damaging	Het
Atoh1	A	T	6: 64,729,920	M200L	possibly damaging	Het
Caprin1	A	G	2: 103,771,754	S548P	probably benign	Het
Ccdc167	T	A	17: 29,705,273	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,307,940	D174E	probably benign	Het
Chil3	T	G	3: 106,148,845	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,962,265	S537T	probably benign	Het
Dctn1	A	T	6: 83,186,141		probably benign	Het
Dhx57	T	A	17: 80,238,858	M1366L	probably benign	Het
Dnah9	T	A	11: 65,911,830	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,316,640	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,242,608	V812A	probably damaging	Het
Erg	A	T	16: 95,377,357	I237N	probably benign	Het
Fem1c	G	T	18: 46,524,118	N176K	probably damaging	Het
Fgd4	T	C	16: 16,475,154	Y233C	probably benign	Het
Foxd2	G	A	4: 114,907,812	A337V	unknown	Het
Gsdma2	T	C	11: 98,657,721	L433P	unknown	Het
Hmcn2	C	A	2: 31,453,033		probably null	Het
Hnrnpul2	T	C	19: 8,820,424	V48A	probably benign	Het
Hsf1	T	A	15: 76,499,187	S396T	probably benign	Het
Htr5b	G	T	1: 121,527,758	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,050,188	S29P	probably damaging	Het
Igsf10	T	A	3: 59,329,128	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 192,277,139	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,200	I158T	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nav3	T	C	10: 109,703,352	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,207,382	D47E	probably benign	Het
Nckap5	A	G	1: 126,024,646	S1390P	probably damaging	Het
Npepps	T	G	11: 97,267,628	I104L	probably benign	Het
Numb	A	G	12: 83,801,277	S229P	not run	Het
Olfr1156	G	A	2: 87,949,478	H252Y	probably damaging	Het
Olfr1342	T	C	4: 118,690,228	S75G	probably damaging	Het
Olfr1443	A	T	19: 12,680,212	I35F	probably benign	Het
Opn1sw	T	A	6: 29,380,169	I83F	probably benign	Het
Pigg	T	G	5: 108,336,296	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1l1	C	A	15: 44,527,737	H1504N	probably benign	Het
Plcd4	A	G	1: 74,565,133	N757D	possibly damaging	Het
Ppia	A	G	11: 6,419,569	T152A	probably benign	Het
Psmd8	G	A	7: 29,178,921		probably null	Het
Pxn	T	A	5: 115,548,516	Y356N	probably benign	Het
Rhoa	G	C	9: 108,336,715	C159S	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rita1	C	T	5: 120,611,441	C69Y	probably benign	Het
Satb1	A	G	17: 51,767,933	S512P	possibly damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,621,896	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,221,287	Y287H	probably benign	Het
Sntg2	A	T	12: 30,226,911	C381S	probably benign	Het
Syngap1	T	A	17: 26,959,964	M649K	probably damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Thap2	T	C	10: 115,376,384	I79V	probably damaging	Het
Thap7	T	C	16: 17,528,603	N172S	probably benign	Het
Ticrr	A	G	7: 79,679,096	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,776,315	N18084D	probably damaging	Het
Usp48	A	T	4: 137,650,417	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,086,054	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,419	C134S	probably damaging	Het
Zcchc2	A	T	1: 106,018,273	D481V	probably damaging	Het
Zfp949	G	A	9: 88,569,870	G498R	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCTTGCCCATGAGTAAGG -3'
(R):5'- GTAAAACACACATGTCCTTCAGCTC -3'

Sequencing Primer
(F):5'- ATGAGTAAGGGCCCCTTCC -3'
(R):5'- CCTGCCCTGTCTCTTAAAGGG -3'

Posted On

2019-11-26