Incidental Mutation 'IGL02065:Bmp1'
ID185607
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 #IGL02065
Quality Score
Status
Chromosome14
Chromosomal Location70474558-70520234 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70490107 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 679 (I679F)
Ref Sequence ENSEMBL: ENSMUSP00000022693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022693] [ENSMUST00000226246] [ENSMUST00000226906] [ENSMUST00000227944]
Predicted Effect probably damaging
Transcript: ENSMUST00000022693
AA Change: I679F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022693
Gene: ENSMUSG00000022098
AA Change: I679F

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: ENSMUST00000226601
Predicted Effect probably benign
Transcript: ENSMUST00000226906
Predicted Effect probably benign
Transcript: ENSMUST00000227944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228501
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,312,901 E770K possibly damaging Het
Abhd17a C A 10: 80,586,561 A22S probably benign Het
Actbl2 A G 13: 111,255,691 T187A probably benign Het
Adgrl3 G A 5: 81,512,217 G278R probably damaging Het
Apoh C A 11: 108,414,305 probably benign Het
Atp2b2 A G 6: 113,813,867 F192S probably damaging Het
Bdh1 T C 16: 31,449,936 I163T possibly damaging Het
Bmp2 T A 2: 133,560,924 F132I probably benign Het
Bpifb5 T C 2: 154,227,183 L140P probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil3 T C 14: 55,493,822 probably benign Het
Ccdc57 T C 11: 120,873,760 T730A possibly damaging Het
Cdh10 G T 15: 19,013,256 K647N probably damaging Het
Cdh17 A C 4: 11,771,373 probably benign Het
Cep126 A G 9: 8,099,924 S870P probably benign Het
Col6a4 T C 9: 106,077,103 T346A probably damaging Het
Csmd3 A C 15: 47,666,628 V2592G probably damaging Het
Dnajc16 A T 4: 141,776,933 F239I probably damaging Het
F5 G A 1: 164,190,126 V591M probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fchsd2 T G 7: 101,177,222 probably null Het
Flad1 A T 3: 89,408,987 D89E probably damaging Het
Fsd1 C A 17: 55,996,499 P457Q probably damaging Het
Gm21985 A G 2: 112,357,584 D1012G possibly damaging Het
Gon4l A G 3: 88,857,210 D366G probably null Het
Hadha A G 5: 30,142,845 probably benign Het
Kdr A G 5: 75,961,853 probably benign Het
Kyat3 A G 3: 142,720,375 K24R probably benign Het
Map3k21 A G 8: 125,941,658 D661G probably benign Het
Mical1 A T 10: 41,484,411 K615N possibly damaging Het
Ncor1 T C 11: 62,419,609 K204E possibly damaging Het
Nmral1 T A 16: 4,716,482 I32F probably benign Het
Nrros T C 16: 32,144,674 D175G possibly damaging Het
Olfr1329 G A 4: 118,916,771 T232I probably benign Het
Olfr536 T C 7: 140,504,164 I98M probably benign Het
Ryr2 A G 13: 11,572,257 F4713L possibly damaging Het
Serpinb1b G A 13: 33,091,318 G142D possibly damaging Het
Slc10a1 A G 12: 80,960,474 S178P possibly damaging Het
Spint1 G A 2: 119,238,217 R144H probably benign Het
Sult6b1 C T 17: 78,889,075 G213R probably damaging Het
Themis3 G T 17: 66,555,905 H353N probably benign Het
Tpr T C 1: 150,413,774 S619P probably benign Het
Ttn A T 2: 76,814,790 V11161E probably damaging Het
Usp13 G A 3: 32,933,165 V837I probably damaging Het
Usp25 T C 16: 77,083,782 V677A probably benign Het
Wdr62 A G 7: 30,243,469 V1001A possibly damaging Het
Whrn A T 4: 63,418,585 I580N possibly damaging Het
Wls T A 3: 159,911,356 V344D probably damaging Het
Zan A T 5: 137,386,960 Y5070* probably null 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
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
X0028:Bmp1 UTSW 14 70508537 missense probably damaging 1.00
Posted On2014-05-07