Incidental Mutation 'IGL00837:Bcl2a1c'
ID9252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2a1c
Ensembl Gene ENSMUSG00000053820
Gene NameB cell leukemia/lymphoma 2 related protein A1c
SynonymsA1-c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.235) question?
Stock #IGL00837
Quality Score
Status
Chromosome9
Chromosomal Location114330135-114330578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114330492 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 113 (T113S)
Ref Sequence ENSEMBL: ENSMUSP00000063842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066460]
Predicted Effect probably benign
Transcript: ENSMUST00000066460
AA Change: T113S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000063842
Gene: ENSMUSG00000053820
AA Change: T113S

DomainStartEndE-ValueType
BCL 37 122 3.38e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1r1 T C 6: 55,461,620 probably benign Het
Adig T A 2: 158,502,789 F16Y possibly damaging Het
Alox12e T C 11: 70,321,054 T210A probably benign Het
Ankfy1 T A 11: 72,755,898 probably benign Het
Aoc1 T A 6: 48,908,664 I701N possibly damaging Het
Armc1 A C 3: 19,144,420 N125K probably benign Het
Cdh10 A T 15: 19,013,404 I697L probably benign Het
Cep350 A T 1: 155,953,391 S256T probably damaging Het
Chd6 T C 2: 161,042,079 N82S probably benign Het
Gart T C 16: 91,638,720 probably benign Het
Gtf3c6 A G 10: 40,254,474 probably benign Het
Igf1r T C 7: 68,201,352 probably benign Het
Mtmr6 T A 14: 60,280,217 Y92* probably null Het
Muc13 A T 16: 33,807,959 K360* probably null Het
Nfyc A G 4: 120,781,547 probably benign Het
Pole T A 5: 110,302,009 V774E possibly damaging Het
Rnf217 A G 10: 31,503,774 L484P probably damaging Het
Slc18a2 A T 19: 59,284,384 I373F probably benign Het
Slc5a9 A G 4: 111,893,690 probably benign Het
Tbc1d30 T C 10: 121,296,845 I205V probably damaging Het
Tfap2d A T 1: 19,119,206 D270V probably damaging Het
Tmem63c G A 12: 87,077,197 S483N probably benign Het
Tor1aip1 T A 1: 156,006,916 probably benign Het
Tsga10 A C 1: 37,801,911 probably benign Het
Ttc21b A T 2: 66,235,571 probably null Het
Wdr89 A T 12: 75,633,051 L143* probably null Het
Other mutations in Bcl2a1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Bcl2a1c APN 9 114330540 makesense probably null
IGL01633:Bcl2a1c APN 9 114330222 missense probably benign 0.00
IGL02456:Bcl2a1c APN 9 114330390 missense probably damaging 1.00
R0336:Bcl2a1c UTSW 9 114330285 missense probably damaging 1.00
R5908:Bcl2a1c UTSW 9 114330504 missense probably benign 0.00
R5973:Bcl2a1c UTSW 9 114330397 missense probably benign 0.02
R6485:Bcl2a1c UTSW 9 114330210 missense probably benign 0.02
Posted On2012-12-06