Incidental Mutation 'R1580:Bcl2l13'
ID171348
Institutional Source Beutler Lab
Gene Symbol Bcl2l13
Ensembl Gene ENSMUSG00000009112
Gene NameBCL2-like 13 (apoptosis facilitator)
SynonymsBCL-RAMBO, Mil1, Mil-1, E430016C20Rik
MMRRC Submission 039617-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #R1580 (G1)
Quality Score215
Status Validated
Chromosome6
Chromosomal Location120836212-120892842 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120865714 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 123 (I123V)
Ref Sequence ENSEMBL: ENSMUSP00000009256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009256] [ENSMUST00000203037] [ENSMUST00000203584]
Predicted Effect probably benign
Transcript: ENSMUST00000009256
AA Change: I123V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000009256
Gene: ENSMUSG00000009112
AA Change: I123V

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
Meta Mutation Damage Score 0.1284 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,265,965 V2044I possibly damaging Het
Adgrv1 A G 13: 81,466,160 probably null Het
Arhgef38 T C 3: 133,133,704 Q526R probably benign Het
Atp2c2 A G 8: 119,752,987 N752D probably benign Het
Atp6v0a1 T C 11: 101,029,204 I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 V551A possibly damaging Het
B3galnt1 A G 3: 69,575,707 S74P possibly damaging Het
Brms1l A T 12: 55,868,222 K305N probably damaging Het
Ccdc82 C T 9: 13,252,760 R226C probably damaging Het
Chst9 T G 18: 15,453,065 K147T probably benign Het
Clec16a A G 16: 10,595,898 R390G probably damaging Het
Clec5a G T 6: 40,585,219 H4N probably benign Het
Csmd1 T A 8: 15,925,299 Q2970L probably damaging Het
Cyp2a4 T C 7: 26,307,651 I61T possibly damaging Het
Cyp3a16 T A 5: 145,442,074 K379I possibly damaging Het
Cyp3a16 T C 5: 145,442,075 K379E probably damaging Het
Dok2 A G 14: 70,776,957 D195G probably benign Het
Emilin1 A G 5: 30,917,420 E335G probably damaging Het
Fam205c T C 4: 42,874,020 probably null Het
Gm7361 G T 5: 26,257,770 L3F probably damaging Het
Haus1 T C 18: 77,766,920 D50G probably damaging Het
Igf1r T C 7: 68,207,869 V1099A probably benign Het
Kif15 T C 9: 122,959,956 V71A probably benign Het
Klk10 C T 7: 43,782,862 A73V probably damaging Het
Lins1 C A 7: 66,714,491 D711E probably benign Het
Mbtps1 C T 8: 119,538,900 V303I possibly damaging Het
Mest G A 6: 30,745,823 probably benign Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr299 A G 7: 86,465,450 E13G probably benign Het
Olfr800 G T 10: 129,660,315 V170F probably benign Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Rtf2 A G 2: 172,445,365 D68G probably damaging Het
Sbspon C A 1: 15,892,468 C62F probably damaging Het
Spg7 T A 8: 123,090,238 probably benign Het
Trabd2b T C 4: 114,580,334 V236A possibly damaging Het
Vmn2r10 A T 5: 109,006,251 N62K possibly damaging Het
Vmn2r45 T G 7: 8,471,747 S761R possibly damaging Het
Zfp580 C T 7: 5,053,285 R215C probably damaging Het
Zfpm2 A G 15: 41,103,209 D898G possibly damaging Het
Other mutations in Bcl2l13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02615:Bcl2l13 APN 6 120862867 missense probably damaging 0.98
R1344:Bcl2l13 UTSW 6 120876327 missense probably benign 0.23
R1528:Bcl2l13 UTSW 6 120870794 missense possibly damaging 0.86
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
Predicted Primers PCR Primer
(F):5'- TGTCTTCAGCCTTCACCAGCACAG -3'
(R):5'- TGTTGAAACCTGGCAGCTCACC -3'

Sequencing Primer
(F):5'- AGCACAGGCTTTGACTGTC -3'
(R):5'- TGCTTCCAGGCAAATCCG -3'
Posted On2014-04-13