Incidental Mutation 'IGL01483:Bmp10'
ID88696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmp10
Ensembl Gene ENSMUSG00000030046
Gene Namebone morphogenetic protein 10
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01483
Quality Score
Status
Chromosome6
Chromosomal Location87428994-87437677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87433951 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 242 (D242V)
Ref Sequence ENSEMBL: ENSMUSP00000032125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032125]
Predicted Effect probably damaging
Transcript: ENSMUST00000032125
AA Change: D242V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032125
Gene: ENSMUSG00000030046
AA Change: D242V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:TGFb_propeptide 52 256 8.1e-24 PFAM
TGFB 320 420 6.7e-52 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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. Homozygous knockout mice for this gene exhibit impaired heart development and embryonic lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice display decreased embryo size, cardiac dysgenesis, defects in early embryonic vascular development, enlarged pericardium, arteriovenous malformations, and embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Notum T C 11: 120,656,656 D271G probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Bmp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Bmp10 APN 6 87429160 missense possibly damaging 0.87
IGL00946:Bmp10 APN 6 87434362 missense probably damaging 1.00
IGL02132:Bmp10 APN 6 87434148 missense probably benign
R1391:Bmp10 UTSW 6 87433758 missense probably benign 0.00
R1472:Bmp10 UTSW 6 87433797 missense probably benign 0.34
R1938:Bmp10 UTSW 6 87433720 missense possibly damaging 0.77
R2114:Bmp10 UTSW 6 87434459 missense probably benign 0.10
R2158:Bmp10 UTSW 6 87434080 missense probably benign 0.21
R4922:Bmp10 UTSW 6 87433575 missense probably benign 0.00
R5042:Bmp10 UTSW 6 87434057 missense probably damaging 0.98
R6041:Bmp10 UTSW 6 87434320 missense probably damaging 1.00
R7000:Bmp10 UTSW 6 87434193 missense probably benign 0.02
R7593:Bmp10 UTSW 6 87433669 missense probably damaging 1.00
Posted On2013-11-18