Incidental Mutation 'R1580:Bcl2l13'
ID 171348
Institutional Source Beutler Lab
Gene Symbol Bcl2l13
Ensembl Gene ENSMUSG00000009112
Gene Name BCL2 like 13
Synonyms Mil1, E430016C20Rik, Mil-1, BCL-RAMBO
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R1580 (G1)
Quality Score 215
Status Validated
Chromosome 6
Chromosomal Location 120813173-120869803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120842675 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P59017
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 0.0898 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: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging Het
Other mutations in Bcl2l13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02615:Bcl2l13 APN 6 120,839,828 (GRCm39) missense probably damaging 0.98
R1344:Bcl2l13 UTSW 6 120,853,288 (GRCm39) missense probably benign 0.23
R1528:Bcl2l13 UTSW 6 120,847,755 (GRCm39) missense possibly damaging 0.86
R1743:Bcl2l13 UTSW 6 120,825,504 (GRCm39) nonsense probably null
R4949:Bcl2l13 UTSW 6 120,864,191 (GRCm39) missense probably damaging 1.00
R5066:Bcl2l13 UTSW 6 120,863,982 (GRCm39) missense possibly damaging 0.86
R5470:Bcl2l13 UTSW 6 120,839,833 (GRCm39) missense probably benign 0.07
R6370:Bcl2l13 UTSW 6 120,842,583 (GRCm39) missense probably benign 0.03
R6843:Bcl2l13 UTSW 6 120,825,578 (GRCm39) critical splice donor site probably null
R6866:Bcl2l13 UTSW 6 120,839,850 (GRCm39) missense probably benign 0.07
R7661:Bcl2l13 UTSW 6 120,842,558 (GRCm39) missense possibly damaging 0.53
R7910:Bcl2l13 UTSW 6 120,842,646 (GRCm39) missense possibly damaging 0.87
R8192:Bcl2l13 UTSW 6 120,853,267 (GRCm39) missense possibly damaging 0.85
R9220:Bcl2l13 UTSW 6 120,847,735 (GRCm39) missense possibly damaging 0.93
R9749:Bcl2l13 UTSW 6 120,842,633 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- TGTCTTCAGCCTTCACCAGCACAG -3'
(R):5'- TGTTGAAACCTGGCAGCTCACC -3'

Sequencing Primer
(F):5'- AGCACAGGCTTTGACTGTC -3'
(R):5'- TGCTTCCAGGCAAATCCG -3'
Posted On 2014-04-13