Incidental Mutation 'R2326:Bglap3'
ID244908
Institutional Source Beutler Lab
Gene Symbol Bglap3
Ensembl Gene ENSMUSG00000074489
Gene Namebone gamma-carboxyglutamate protein 3
SynonymsORG, Bglap-rs1, mOC-X
MMRRC Submission 040317-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #R2326 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location88368616-88372743 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to C at 88369512 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075523] [ENSMUST00000107542] [ENSMUST00000107543] [ENSMUST00000147948] [ENSMUST00000147991]
Predicted Effect unknown
Transcript: ENSMUST00000075523
AA Change: L9V
SMART Domains Protein: ENSMUSP00000074965
Gene: ENSMUSG00000074489
AA Change: L9V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.9e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107542
AA Change: L9V
SMART Domains Protein: ENSMUSP00000103166
Gene: ENSMUSG00000074489
AA Change: L9V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.9e-22 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107543
AA Change: L9V
SMART Domains Protein: ENSMUSP00000103167
Gene: ENSMUSG00000074489
AA Change: L9V

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
GLA 31 91 5.9e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147818
Predicted Effect probably benign
Transcript: ENSMUST00000147948
SMART Domains Protein: ENSMUSP00000119656
Gene: ENSMUSG00000041423

DomainStartEndE-ValueType
Pfam:HlyIII 59 161 6.8e-18 PFAM
transmembrane domain 180 202 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147991
SMART Domains Protein: ENSMUSP00000114166
Gene: ENSMUSG00000041423

DomainStartEndE-ValueType
Pfam:HlyIII 43 271 5.5e-51 PFAM
transmembrane domain 292 314 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152477
Meta Mutation Damage Score 0.1777 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (31/31)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh3 A G 8: 106,511,308 T45A probably benign Het
Cdyl2 A G 8: 116,623,798 V198A probably benign Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Cyp7a1 A T 4: 6,268,396 I443K probably benign Het
Dazap1 T A 10: 80,284,233 M234K possibly damaging Het
Dnmt1 A T 9: 20,924,146 probably benign Het
Dusp8 A G 7: 142,090,063 Y38H probably damaging Het
Ewsr1 A G 11: 5,091,857 probably null Het
Fem1b T C 9: 62,797,003 H325R probably damaging Het
Flrt3 C A 2: 140,661,391 V106F possibly damaging Het
Foxp2 T A 6: 15,409,939 S513T possibly damaging Het
Gm5600 G T 7: 113,707,804 noncoding transcript Het
Haspin A G 11: 73,136,085 I726T probably benign Het
Lama4 T A 10: 39,042,567 probably null Het
Lrrc7 A T 3: 158,170,661 H597Q probably damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Plcb4 C T 2: 135,939,973 T238M probably damaging Het
Plekhd1 A G 12: 80,722,099 probably null Het
Prph C G 15: 99,055,282 probably benign Het
Rassf2 C T 2: 132,000,432 probably null Het
Saal1 A G 7: 46,692,811 F403L probably benign Het
Serpina3a C T 12: 104,116,499 T177I probably benign Het
Slc23a2 C T 2: 132,094,195 E52K possibly damaging Het
Stab2 T A 10: 86,954,474 probably null Het
Syne3 T A 12: 104,969,234 E95V probably damaging Het
Vmn1r58 G T 7: 5,410,940 T97N probably damaging Het
Vmn2r61 T G 7: 42,266,863 L300W probably damaging Het
Vps13a T C 19: 16,743,057 E388G possibly damaging Het
Other mutations in Bglap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Bglap3 APN 3 88369116 missense possibly damaging 0.90
IGL02984:Bglap3 UTSW 3 88368791 missense possibly damaging 0.66
R0496:Bglap3 UTSW 3 88369137 missense probably damaging 0.98
R1435:Bglap3 UTSW 3 88369146 missense possibly damaging 0.70
R1903:Bglap3 UTSW 3 88368761 missense probably benign 0.01
R1970:Bglap3 UTSW 3 88376993 unclassified probably benign
R2296:Bglap3 UTSW 3 88369512 unclassified probably benign
R2917:Bglap3 UTSW 3 88369512 unclassified probably benign
R4967:Bglap3 UTSW 3 88376364 unclassified probably benign
R5941:Bglap3 UTSW 3 88376346 unclassified probably benign
R6259:Bglap3 UTSW 3 88368760 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTACCTTTGTCAGACTCAGGGC -3'
(R):5'- AGACTCCTGCATGCATGTTGAAAG -3'

Sequencing Primer
(F):5'- CGTGGCATCTGTAAAGCAAAC -3'
(R):5'- CTGCATGCATGTTGAAAGGTTCC -3'
Posted On2014-10-30