Incidental Mutation 'IGL03211:Bmp7'
ID413307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp7
Ensembl Gene ENSMUSG00000008999
Gene Namebone morphogenetic protein 7
Synonymsosteogenic protein 1, OP1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03211
Quality Score
Status
Chromosome2
Chromosomal Location172868012-172940321 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 172872883 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 378 (V378I)
Ref Sequence ENSEMBL: ENSMUSP00000009143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009143]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009143
AA Change: V378I

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009143
Gene: ENSMUSG00000008999
AA Change: V378I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:TGFb_propeptide 34 279 4.3e-97 PFAM
TGFB 329 430 2.14e-68 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016]
PHENOTYPE: Various homozygous targeted mutations result in postnatal lethality, a wide range of skeletal and cartilage abnormalities, renal dysplasia and polycystic kidney, and eye defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209b G T 8: 3,918,830 probably benign Het
Cilp A T 9: 65,280,175 Q1184L probably benign Het
Cysltr2 A T 14: 73,029,715 M185K possibly damaging Het
Dcaf6 A G 1: 165,422,933 F121L possibly damaging Het
Dnajc8 T A 4: 132,544,737 Y95N possibly damaging Het
Ebf3 A G 7: 137,231,304 V214A probably benign Het
Elavl3 A G 9: 22,018,678 V310A probably damaging Het
Emc2 C T 15: 43,507,672 R131* probably null Het
Hcn4 G A 9: 58,858,151 V639M unknown Het
Kif21a T G 15: 90,997,963 D46A possibly damaging Het
Kitl T C 10: 100,080,859 S175P probably benign Het
Klhl32 C T 4: 24,792,616 probably null Het
Plcg1 C T 2: 160,759,691 T972I possibly damaging Het
Prdm13 T C 4: 21,678,492 H666R probably damaging Het
Rap1gap G A 4: 137,715,846 probably null Het
Rdh7 T C 10: 127,887,623 N121S probably benign Het
Ric8b T A 10: 85,001,793 I488N probably damaging Het
Slc38a2 A T 15: 96,698,272 probably null Het
Slc9a9 G A 9: 95,137,990 probably benign Het
Tk2 T A 8: 104,243,441 I64F probably damaging Het
Virma G A 4: 11,548,770 W1776* probably null Het
Vrk1 C T 12: 106,036,588 A15V probably benign Het
Wdfy3 T C 5: 101,844,912 probably benign Het
Wfdc10 T C 2: 164,657,252 V94A probably benign Het
Zfp780b A T 7: 27,963,175 C652S possibly damaging Het
Other mutations in Bmp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Bmp7 APN 2 172875262 missense probably damaging 1.00
IGL01143:Bmp7 APN 2 172879482 missense probably benign
IGL01636:Bmp7 APN 2 172875208 splice site probably benign
IGL02331:Bmp7 APN 2 172872931 missense probably damaging 1.00
R1957:Bmp7 UTSW 2 172939921 missense probably damaging 0.97
R2044:Bmp7 UTSW 2 172939915 missense possibly damaging 0.46
R3772:Bmp7 UTSW 2 172870222 missense probably damaging 1.00
R4392:Bmp7 UTSW 2 172916542 missense probably benign 0.25
R6716:Bmp7 UTSW 2 172872889 missense probably damaging 1.00
R6774:Bmp7 UTSW 2 172872958 missense probably damaging 1.00
R6864:Bmp7 UTSW 2 172940062 missense probably benign 0.00
R6904:Bmp7 UTSW 2 172872913 missense probably damaging 0.97
R7295:Bmp7 UTSW 2 172939897 missense probably damaging 1.00
R7390:Bmp7 UTSW 2 172870205 missense probably damaging 1.00
R7392:Bmp7 UTSW 2 172870205 missense probably damaging 1.00
R7560:Bmp7 UTSW 2 172939964 missense possibly damaging 0.85
R7871:Bmp7 UTSW 2 172939991 missense probably benign 0.00
R7954:Bmp7 UTSW 2 172939991 missense probably benign 0.00
X0024:Bmp7 UTSW 2 172939801 missense probably benign 0.25
Posted On2016-08-02