Incidental Mutation 'IGL03394:Bglap'
ID 421197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bglap
Ensembl Gene ENSMUSG00000074483
Gene Name bone gamma carboxyglutamate protein
Synonyms bone Gla protein, OC, mOC-A, osteocalcin, OG1, Bglap1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL03394
Quality Score
Status
Chromosome 3
Chromosomal Location 88290808-88291771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88291312 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P86546
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: 46,635,277 (GRCm39) L242P probably damaging Het
Adam22 T C 5: 8,217,379 (GRCm39) I139V probably benign Het
Ahr G T 12: 35,553,751 (GRCm39) Y789* probably null Het
Ankrd27 C A 7: 35,306,523 (GRCm39) probably null Het
Ano1 T C 7: 144,149,176 (GRCm39) probably null Het
Ap4e1 T A 2: 126,905,317 (GRCm39) M996K probably benign Het
Ccdc30 A T 4: 119,216,779 (GRCm39) S220R probably damaging Het
Clic5 A G 17: 44,548,105 (GRCm39) N50S probably benign Het
Csnk2a1-ps3 A T 1: 156,352,792 (GRCm39) Q331L probably benign Het
Cyp20a1 T G 1: 60,405,840 (GRCm39) D211E probably damaging Het
Dctn1 G A 6: 83,168,266 (GRCm39) V408I possibly damaging Het
Exoc6 T C 19: 37,588,020 (GRCm39) I551T probably benign Het
Fat4 C T 3: 38,946,168 (GRCm39) T1687M probably damaging Het
Fat4 T A 3: 39,063,513 (GRCm39) C4490S probably damaging Het
Fras1 T A 5: 96,815,336 (GRCm39) I1351N probably damaging Het
Igkv2-116 T C 6: 68,129,327 (GRCm39) noncoding transcript Het
Iws1 T G 18: 32,221,301 (GRCm39) probably benign Het
Mlh1 A T 9: 111,097,311 (GRCm39) I61N probably damaging Het
Mtmr7 C T 8: 41,061,972 (GRCm39) V38M probably damaging Het
Myh7 G T 14: 55,212,818 (GRCm39) A1409D probably damaging Het
Myt1 A T 2: 181,439,638 (GRCm39) I387F probably damaging Het
Nars2 A G 7: 96,689,220 (GRCm39) N381D possibly damaging Het
Nsd3 T C 8: 26,165,765 (GRCm39) probably benign Het
Nup107 A G 10: 117,617,933 (GRCm39) S162P probably damaging Het
Oog2 T C 4: 143,920,576 (GRCm39) F3S probably benign Het
Or8b1b A G 9: 38,375,517 (GRCm39) Y60C probably damaging Het
Oxgr1 T C 14: 120,260,022 (GRCm39) M62V possibly damaging Het
Pcgf1 A G 6: 83,056,121 (GRCm39) Y75C probably damaging Het
Ppp3cc C A 14: 70,462,477 (GRCm39) E396* probably null Het
Ptx4 T A 17: 25,343,649 (GRCm39) C300S probably damaging Het
Rassf4 C T 6: 116,618,708 (GRCm39) V192I probably damaging Het
Rundc3b T C 5: 8,598,261 (GRCm39) T203A possibly damaging Het
Serpinb3c T C 1: 107,199,603 (GRCm39) D306G probably benign Het
Sipa1l2 T C 8: 126,218,398 (GRCm39) E313G possibly damaging Het
Snx5 G A 2: 144,095,674 (GRCm39) A329V probably damaging Het
Stx1b T C 7: 127,407,056 (GRCm39) D213G probably damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Trim50 A T 5: 135,392,807 (GRCm39) I241F probably damaging Het
Ttn G A 2: 76,580,760 (GRCm39) H23378Y probably benign Het
Vmn1r193 T A 13: 22,403,939 (GRCm39) M18L probably benign Het
Vmn1r226 A G 17: 20,908,446 (GRCm39) N226S probably benign Het
Vmn2r14 T A 5: 109,367,702 (GRCm39) Q430L probably null Het
Xirp2 T A 2: 67,345,538 (GRCm39) V2593D probably damaging Het
Zfp169 A T 13: 48,643,400 (GRCm39) F576I possibly damaging Het
Zfp667 T C 7: 6,292,438 (GRCm39) probably null Het
Zzef1 A G 11: 72,777,601 (GRCm39) probably null Het
Other mutations in Bglap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Bglap APN 3 88,291,657 (GRCm39) critical splice donor site probably null
IGL02631:Bglap APN 3 88,290,987 (GRCm39) nonsense probably null
IGL02738:Bglap APN 3 88,291,715 (GRCm39) missense unknown
R0592:Bglap UTSW 3 88,290,962 (GRCm39) missense probably benign 0.01
R1945:Bglap UTSW 3 88,290,971 (GRCm39) missense probably damaging 1.00
R4067:Bglap UTSW 3 88,291,744 (GRCm39) unclassified probably benign
R4795:Bglap UTSW 3 88,291,712 (GRCm39) missense unknown
R4796:Bglap UTSW 3 88,291,712 (GRCm39) missense unknown
R7744:Bglap UTSW 3 88,290,958 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02