Incidental Mutation 'R6843:Bcl2l13'
ID534620
Institutional Source Beutler Lab
Gene Symbol Bcl2l13
Ensembl Gene ENSMUSG00000009112
Gene NameBCL2-like 13 (apoptosis facilitator)
SynonymsBCL-RAMBO, Mil1, Mil-1, E430016C20Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R6843 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location120836212-120892842 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 120848617 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009256] [ENSMUST00000009256] [ENSMUST00000203037] [ENSMUST00000203037] [ENSMUST00000203584] [ENSMUST00000203584]
Predicted Effect probably null
Transcript: ENSMUST00000009256
SMART Domains Protein: ENSMUSP00000009256
Gene: ENSMUSG00000009112

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 null
Transcript: ENSMUST00000009256
SMART Domains Protein: ENSMUSP00000009256
Gene: ENSMUSG00000009112

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 null
Transcript: ENSMUST00000203037
Predicted Effect probably null
Transcript: ENSMUST00000203037
Predicted Effect probably null
Transcript: ENSMUST00000203584
Predicted Effect probably null
Transcript: ENSMUST00000203584
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,638,401 Q78L probably benign Het
Akr1c21 A G 13: 4,575,214 H48R probably damaging Het
Anks1b T A 10: 90,948,598 S1143T probably damaging Het
Apip T G 2: 103,092,489 F217L probably benign Het
Ash1l T A 3: 88,985,388 Y1525N probably damaging Het
Cep85 C G 4: 134,155,856 A241P probably benign Het
Clk4 T G 11: 51,276,249 probably null Het
Cnr2 C T 4: 135,917,589 P326L probably benign Het
Cryaa A G 17: 31,678,173 D58G possibly damaging Het
Crybg3 G A 16: 59,559,796 T365M probably benign Het
Csmd2 A G 4: 128,463,794 N1683D probably benign Het
Dbx2 T G 15: 95,654,459 I102L possibly damaging Het
Dll4 A T 2: 119,325,994 probably benign Het
Epb42 T A 2: 121,027,685 Y264F possibly damaging Het
Exoc3l T A 8: 105,290,097 H695L probably benign Het
Fam160a1 G A 3: 85,673,045 P618S probably damaging Het
Ghsr A C 3: 27,372,527 D244A probably benign Het
Gm9195 A G 14: 72,441,211 Y2268H possibly damaging Het
Hdac1 A G 4: 129,542,590 Y14H probably damaging Het
Hdac3 A T 18: 37,941,954 Y282N probably benign Het
Heg1 T A 16: 33,719,526 N285K probably benign Het
Igkv4-90 A G 6: 68,807,686 F8S possibly damaging Het
Map2k1 A T 9: 64,187,691 D336E probably damaging Het
Map4k2 A T 19: 6,353,447 I796F probably damaging Het
Mapk13 T A 17: 28,775,453 probably null Het
Mprip A G 11: 59,759,728 I1419M possibly damaging Het
Nrap T C 19: 56,380,219 E255G probably damaging Het
Olfr1306 T C 2: 111,912,915 N5S probably damaging Het
Olfr1357 T C 10: 78,612,057 N195D probably damaging Het
Olfr1451 G T 19: 12,998,998 C4F probably benign Het
Olfr549 A G 7: 102,554,721 I146V probably benign Het
Olfr799 A G 10: 129,647,179 D17G possibly damaging Het
Oprl1 A G 2: 181,715,754 E11G probably damaging Het
Palmd T A 3: 116,924,215 D211V probably damaging Het
Pcdhga11 A G 18: 37,756,325 N129D probably damaging Het
Plekha6 T A 1: 133,274,878 M359K probably damaging Het
Plekha7 G T 7: 116,143,320 H756Q probably benign Het
Ppfibp2 C T 7: 107,727,731 P441S probably benign Het
Ptprk T C 10: 28,591,982 I1373T possibly damaging Het
Serpinb9g G T 13: 33,492,917 L227F probably damaging Het
Snapc4 C A 2: 26,373,599 A11S probably benign Het
Sqor T C 2: 122,784,980 V7A probably benign Het
Sqor G T 2: 122,809,295 G437V probably damaging Het
Srrm3 T C 5: 135,852,281 V145A probably benign Het
Stx1b G A 7: 127,814,979 Q72* probably null Het
Syt7 A G 19: 10,421,771 D77G probably damaging Het
Tvp23a G A 16: 10,447,020 A9V probably benign Het
Vmn1r66 T A 7: 10,274,765 I114F probably damaging Het
Vmn2r80 C A 10: 79,169,668 Q380K probably benign Het
Xdh C T 17: 73,923,130 E269K probably damaging Het
Zfp932 T C 5: 110,008,715 M92T probably benign 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
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
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
R8192:Bcl2l13 UTSW 6 120876306 missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GAGACATTTACTTTGGGAGTTAGAG -3'
(R):5'- ATCGTGAAGTGAACTCGCC -3'

Sequencing Primer
(F):5'- TTAGAGGAGTAGTTGGGATCAATG -3'
(R):5'- GTGAAGTGAACTCGCCCACAC -3'
Posted On2018-09-12