Incidental Mutation 'IGL03394:Bglap'
ID421197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bglap
Ensembl Gene ENSMUSG00000074483
Gene Namebone gamma carboxyglutamate protein
SynonymsBglap, Bglap1, bone Gla protein, mOC-A, OC, OG1, osteocalcin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL03394
Quality Score
Status
Chromosome3
Chromosomal Location88383501-88384464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88384005 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 42 (K42E)
Ref Sequence ENSEMBL: ENSMUSP00000075425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076048]
Predicted Effect probably benign
Transcript: ENSMUST00000076048
AA Change: K42E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075425
Gene: ENSMUSG00000074483
AA Change: K42E

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.22e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107540
SMART Domains Protein: ENSMUSP00000103164
Gene: ENSMUSG00000078691

DomainStartEndE-ValueType
Pfam:HlyIII 5 127 3.4e-21 PFAM
transmembrane domain 148 170 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128732
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes one of the most abundant non-collagenous proteins in bone tissue that is localized to the mineralized matrix of bone. The encoded preproprotein undergoes proteolytic processing and post-translational gamma carboxylation to generate a mature, calcium-binding protein. Mice lacking the encoded protein develop abnormalities of bone remodelling. This gene is located adjacent to two other osteocalcin-related genes on chromosome 3. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of both Bglap1 and Bglap2 exhibit decreased circulating insulin, impaired glucose tolerance, increased adipose tissue, increased bone density, and decreased male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A G 17: 46,324,351 L242P probably damaging Het
Adam22 T C 5: 8,167,379 I139V probably benign Het
Ahr G T 12: 35,503,752 Y789* probably null Het
Ankrd27 C A 7: 35,607,098 probably null Het
Ano1 T C 7: 144,595,439 probably null Het
Ap4e1 T A 2: 127,063,397 M996K probably benign Het
Ccdc30 A T 4: 119,359,582 S220R probably damaging Het
Clic5 A G 17: 44,237,218 N50S probably benign Het
Cyp20a1 T G 1: 60,366,681 D211E probably damaging Het
Dctn1 G A 6: 83,191,284 V408I possibly damaging Het
Exoc6 T C 19: 37,599,572 I551T probably benign Het
Fat4 C T 3: 38,892,019 T1687M probably damaging Het
Fat4 T A 3: 39,009,364 C4490S probably damaging Het
Fras1 T A 5: 96,667,477 I1351N probably damaging Het
Gm10031 A T 1: 156,525,222 Q331L probably benign Het
Igkv2-116 T C 6: 68,152,343 noncoding transcript Het
Iws1 T G 18: 32,088,248 probably benign Het
Mlh1 A T 9: 111,268,243 I61N probably damaging Het
Mtmr7 C T 8: 40,608,929 V38M probably damaging Het
Myh7 G T 14: 54,975,361 A1409D probably damaging Het
Myt1 A T 2: 181,797,845 I387F probably damaging Het
Nars2 A G 7: 97,040,013 N381D possibly damaging Het
Nsd3 T C 8: 25,675,749 probably benign Het
Nup107 A G 10: 117,782,028 S162P probably damaging Het
Olfr904 A G 9: 38,464,221 Y60C probably damaging Het
Oog2 T C 4: 144,194,006 F3S probably benign Het
Oxgr1 T C 14: 120,022,610 M62V possibly damaging Het
Pcgf1 A G 6: 83,079,140 Y75C probably damaging Het
Ppp3cc C A 14: 70,225,028 E396* probably null Het
Ptx4 T A 17: 25,124,675 C300S probably damaging Het
Rassf4 C T 6: 116,641,747 V192I probably damaging Het
Rundc3b T C 5: 8,548,261 T203A possibly damaging Het
Serpinb3c T C 1: 107,271,873 D306G probably benign Het
Sipa1l2 T C 8: 125,491,659 E313G possibly damaging Het
Snx5 G A 2: 144,253,754 A329V probably damaging Het
Stx1b T C 7: 127,807,884 D213G probably damaging Het
Tpd52l2 G A 2: 181,515,086 V172I probably benign Het
Trim50 A T 5: 135,363,953 I241F probably damaging Het
Ttn G A 2: 76,750,416 H23378Y probably benign Het
Vmn1r193 T A 13: 22,219,769 M18L probably benign Het
Vmn1r226 A G 17: 20,688,184 N226S probably benign Het
Vmn2r14 T A 5: 109,219,836 Q430L probably null Het
Xirp2 T A 2: 67,515,194 V2593D probably damaging Het
Zfp169 A T 13: 48,489,924 F576I possibly damaging Het
Zfp667 T C 7: 6,289,439 probably null Het
Zzef1 A G 11: 72,886,775 probably null Het
Other mutations in Bglap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Bglap APN 3 88384350 critical splice donor site probably null
IGL02631:Bglap APN 3 88383680 nonsense probably null
IGL02738:Bglap APN 3 88384408 missense unknown
R0592:Bglap UTSW 3 88383655 missense probably benign 0.01
R1945:Bglap UTSW 3 88383664 missense probably damaging 1.00
R4067:Bglap UTSW 3 88384437 unclassified probably benign
R4795:Bglap UTSW 3 88384405 missense unknown
R4796:Bglap UTSW 3 88384405 missense unknown
Posted On2016-08-02