Incidental Mutation 'IGL02486:Bmp1'
ID295443
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp1
Ensembl Gene ENSMUSG00000022098
Gene Namebone morphogenetic protein 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02486
Quality Score
Status
Chromosome14
Chromosomal Location70474558-70520234 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70504776 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 333 (D333V)
Ref Sequence ENSEMBL: ENSMUSP00000022693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022693] [ENSMUST00000226246] [ENSMUST00000226906] [ENSMUST00000227944]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022693
AA Change: D333V

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: D333V

DomainStartEndE-ValueType
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010106E10Rik T A X: 112,515,258 N147K probably benign Het
9330182L06Rik T A 5: 9,422,323 V340E probably benign Het
BC052040 T C 2: 115,777,006 V280A possibly damaging Het
Bcas1 T C 2: 170,406,398 D201G probably damaging Het
Btbd11 C A 10: 85,640,555 P900H probably damaging Het
Capn6 T C X: 143,804,677 E535G probably benign Het
Chac2 T C 11: 30,977,625 D86G probably damaging Het
Col14a1 T A 15: 55,388,696 probably benign Het
Daam1 T C 12: 71,947,145 probably benign Het
Eno4 A G 19: 58,945,665 probably null Het
Fat1 T C 8: 45,025,072 V2385A probably benign Het
Ffar4 T C 19: 38,113,760 I281T possibly damaging Het
Flcn C T 11: 59,801,043 W260* probably null Het
Fry T G 5: 150,491,177 S496A probably damaging Het
Gk T A X: 85,715,668 I373F possibly damaging Het
Gpr108 T C 17: 57,235,977 N528S probably damaging Het
Hey1 T A 3: 8,666,519 R50W probably damaging Het
Hgf A G 5: 16,602,289 Y393C probably damaging Het
Hmcn2 A T 2: 31,420,095 E3260D probably damaging Het
Ift172 A G 5: 31,257,583 I1365T probably damaging Het
Letmd1 A G 15: 100,475,111 R31G probably damaging Het
Mak16 T C 8: 31,160,586 probably benign Het
Mapkapk3 C T 9: 107,289,268 G26D probably damaging Het
Mphosph8 T C 14: 56,688,387 V603A possibly damaging Het
Myom1 G T 17: 71,099,944 probably benign Het
Neb T A 2: 52,282,603 N1564I possibly damaging Het
Nox1 C T X: 134,092,811 G433D probably damaging Het
Olfr133 T A 17: 38,149,221 L211Q probably damaging Het
Olfr554 A T 7: 102,640,420 H58L probably damaging Het
Olfr641 T C 7: 104,040,410 S205P probably damaging Het
Olfr745 T C 14: 50,642,632 F111S probably damaging Het
Rcc2 T C 4: 140,710,362 W135R probably damaging Het
Rgl2 A G 17: 33,935,980 I205V probably damaging Het
Robo4 G A 9: 37,408,374 G640E probably damaging Het
Slc26a5 A G 5: 21,846,325 F64L probably damaging Het
Slc27a2 A G 2: 126,553,350 T66A probably benign Het
St18 T C 1: 6,820,083 S580P probably damaging Het
Syt15 G A 14: 34,222,976 R160K probably damaging Het
Tmem63b A G 17: 45,673,983 S200P probably damaging Het
Tnks T A 8: 34,851,198 N841I probably damaging Het
Tnr G A 1: 159,852,094 probably null Het
Unc13d A G 11: 116,069,806 probably benign Het
Usp4 T C 9: 108,351,029 L74P probably damaging Het
Other mutations in Bmp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 not run
X0028:Bmp1 UTSW 14 70508537 missense probably damaging 1.00
Posted On2015-04-16