Incidental Mutation 'IGL02615:Bcl2l13'
ID300637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2l13
Ensembl Gene ENSMUSG00000009112
Gene NameBCL2-like 13 (apoptosis facilitator)
SynonymsBCL-RAMBO, Mil1, Mil-1, E430016C20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL02615
Quality Score
Status
Chromosome6
Chromosomal Location120836212-120892842 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120862867 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 42 (D42V)
Ref Sequence ENSEMBL: ENSMUSP00000009256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009256] [ENSMUST00000203037] [ENSMUST00000203584]
Predicted Effect probably damaging
Transcript: ENSMUST00000009256
AA Change: D42V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009256
Gene: ENSMUSG00000009112
AA Change: D42V

DomainStartEndE-ValueType
low complexity region 51 67 N/A INTRINSIC
BCL 106 197 4.19e0 SMART
transmembrane domain 409 431 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203037
Predicted Effect probably benign
Transcript: ENSMUST00000203584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204004
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,646,140 E96* probably null Het
Adck5 C T 15: 76,589,167 S72L possibly damaging Het
Afdn A G 17: 13,825,976 H404R probably benign Het
Aph1c A T 9: 66,819,406 V222E possibly damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Bhlhe22 C T 3: 18,054,900 T38I possibly damaging Het
Ccdc51 A T 9: 109,089,435 T31S probably benign Het
Ctbp2 A G 7: 132,995,347 I669T probably benign Het
Dennd4c A G 4: 86,821,467 T998A probably benign Het
Dpp4 T C 2: 62,359,328 Y410C probably damaging Het
Gli2 T A 1: 118,844,398 N526Y probably damaging Het
Gm12394 C T 4: 42,793,027 M368I probably benign Het
Ighv1-64 A G 12: 115,507,687 I70T possibly damaging Het
Mphosph10 A T 7: 64,381,045 probably benign Het
Mrps34 A G 17: 24,895,793 probably null Het
Myo1f A T 17: 33,604,656 I1053L probably benign Het
Nckap5l G A 15: 99,429,382 P142L possibly damaging Het
Platr26 T A 2: 71,730,426 noncoding transcript Het
Rag2 T A 2: 101,629,568 Y74* probably null Het
Rnf213 A T 11: 119,440,789 M2275L probably damaging Het
Rsbn1 T A 3: 103,953,752 L498Q probably damaging Het
Scp2 A G 4: 108,107,631 V62A probably benign Het
Spag17 A G 3: 100,072,085 I1421V probably benign Het
St6galnac4 A G 2: 32,594,204 H138R probably benign Het
Syne2 T A 12: 76,096,994 M1045K probably damaging Het
Tbxas1 C T 6: 39,027,866 T349M probably damaging Het
U2surp T G 9: 95,493,231 D146A probably benign Het
Usp38 T C 8: 80,985,151 M752V probably benign Het
Other mutations in Bcl2l13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1344:Bcl2l13 UTSW 6 120876327 missense probably benign 0.23
R1528:Bcl2l13 UTSW 6 120870794 missense possibly damaging 0.86
R1580:Bcl2l13 UTSW 6 120865714 missense probably benign 0.06
R1743:Bcl2l13 UTSW 6 120848543 nonsense probably null
R4949:Bcl2l13 UTSW 6 120887230 missense probably damaging 1.00
R5066:Bcl2l13 UTSW 6 120887021 missense possibly damaging 0.86
R5470:Bcl2l13 UTSW 6 120862872 missense probably benign 0.07
R6370:Bcl2l13 UTSW 6 120865622 missense probably benign 0.03
R6843:Bcl2l13 UTSW 6 120848617 critical splice donor site probably null
R6866:Bcl2l13 UTSW 6 120862889 missense probably benign 0.07
R7661:Bcl2l13 UTSW 6 120865597 missense possibly damaging 0.53
R7910:Bcl2l13 UTSW 6 120865685 missense possibly damaging 0.87
R7991:Bcl2l13 UTSW 6 120865685 missense possibly damaging 0.87
R8192:Bcl2l13 UTSW 6 120876306 missense possibly damaging 0.85
Posted On2015-04-16