Incidental Mutation 'IGL01581:Mgp'
ID 91378
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mgp
Ensembl Gene ENSMUSG00000030218
Gene Name matrix Gla protein
Synonyms Mglap
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # IGL01581
Quality Score
Status
Chromosome 6
Chromosomal Location 136849433-136852821 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 136852660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032342]
AlphaFold P19788
Predicted Effect probably benign
Transcript: ENSMUST00000032342
SMART Domains Protein: ENSMUSP00000032342
Gene: ENSMUSG00000030218

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
GLA 31 96 4.9e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203103
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. This protein also inhibits angiogenesis. Mice lacking a functional copy of this gene exhibit impaired differentiation of endothelial cells, reduced stature, and calcification and rupture of the vasculature leading to premature death. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit growth plate calcification leading to reduced stature, osteopenia, and fractures, and arterial calcification and rupture resulting in death by eight weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Gmfg A T 7: 28,142,646 (GRCm39) N18I probably benign Het
Mex3a T C 3: 88,443,671 (GRCm39) I249T probably damaging Het
Sdsl A G 5: 120,597,632 (GRCm39) V225A possibly damaging Het
Sh3pxd2b A G 11: 32,337,973 (GRCm39) K93R possibly damaging Het
Slc22a26 C T 19: 7,779,549 (GRCm39) R89H probably benign Het
Smpd2 T C 10: 41,365,524 (GRCm39) D28G possibly damaging Het
Vmn2r70 A T 7: 85,213,122 (GRCm39) probably null Het
Other mutations in Mgp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1157:Mgp UTSW 6 136,850,204 (GRCm39) missense possibly damaging 0.68
R2473:Mgp UTSW 6 136,850,162 (GRCm39) splice site probably null
R3115:Mgp UTSW 6 136,849,683 (GRCm39) missense probably damaging 1.00
R5434:Mgp UTSW 6 136,849,772 (GRCm39) missense probably benign 0.37
R6178:Mgp UTSW 6 136,849,722 (GRCm39) missense probably damaging 1.00
Z1088:Mgp UTSW 6 136,851,261 (GRCm39) splice site probably null
Posted On 2013-12-09