Incidental Mutation 'IGL01012:Bcl2l15'
ID53483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2l15
Ensembl Gene ENSMUSG00000044165
Gene NameBCLl2-like 15
SynonymsBfk, LOC229672
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01012
Quality Score
Status
Chromosome3
Chromosomal Location103832601-103854618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103833414 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 65 (D65E)
Ref Sequence ENSEMBL: ENSMUSP00000102435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062945] [ENSMUST00000106822] [ENSMUST00000199710]
Predicted Effect probably damaging
Transcript: ENSMUST00000062945
AA Change: D65E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052210
Gene: ENSMUSG00000044165
AA Change: D65E

DomainStartEndE-ValueType
Blast:BCL 60 162 2e-54 BLAST
SCOP:d1k3ka_ 61 165 5e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106822
AA Change: D65E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102435
Gene: ENSMUSG00000044165
AA Change: D65E

DomainStartEndE-ValueType
Blast:BCL 60 162 2e-54 BLAST
SCOP:d1maz__ 60 162 1e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199710
SMART Domains Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053

DomainStartEndE-ValueType
Pfam:Cnd1 35 212 5e-9 PFAM
Pfam:Adaptin_N 35 450 1.2e-62 PFAM
B2-adapt-app_C 544 656 3.75e-42 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,839,701 M249K possibly damaging Het
Adamtsl1 T C 4: 86,342,189 F879S possibly damaging Het
Afap1l2 T C 19: 56,930,261 E30G probably damaging Het
Aqp9 A G 9: 71,130,549 probably benign Het
Arhgap17 A T 7: 123,286,568 probably benign Het
Arhgef10 T C 8: 14,979,977 S921P probably damaging Het
Atp6v0e2 T C 6: 48,537,815 I22T probably damaging Het
AY074887 C T 9: 54,950,679 probably benign Het
C2cd6 A T 1: 58,997,348 probably benign Het
Ccdc138 G A 10: 58,540,915 probably null Het
Ccdc7b A G 8: 129,178,357 T159A possibly damaging Het
Ccser1 A G 6: 61,638,490 T659A probably benign Het
Cd300ld2 T A 11: 115,012,297 I241F probably benign Het
Cep192 T A 18: 67,812,406 N192K possibly damaging Het
Csmd1 T C 8: 15,917,341 K3174R probably benign Het
Dpy30 A T 17: 74,307,754 L65I probably damaging Het
Eci2 A T 13: 34,990,329 L83* probably null Het
F7 A T 8: 13,033,409 E183V probably damaging Het
Fam192a G A 8: 94,587,362 R104W probably damaging Het
Gabrg1 T C 5: 70,778,169 K214R probably benign Het
Galr2 A T 11: 116,283,170 T209S probably damaging Het
Gimap9 T C 6: 48,677,917 probably null Het
Gip C A 11: 96,025,459 F28L probably benign Het
Gpd2 A G 2: 57,364,530 N662S probably benign Het
Grik2 T G 10: 49,272,956 D511A probably damaging Het
Ift122 T A 6: 115,899,491 Y563N probably damaging Het
Ipo8 A G 6: 148,789,063 probably benign Het
Islr T C 9: 58,157,228 E332G probably damaging Het
Itgb7 G A 15: 102,227,585 S5L probably benign Het
Itpr2 G A 6: 146,345,161 R1087W probably damaging Het
Katnal2 C A 18: 77,017,554 V66F probably damaging Het
Krt81 T C 15: 101,461,019 D284G probably benign Het
Krtap4-8 T A 11: 99,780,005 probably benign Het
Map1s C A 8: 70,913,910 N486K probably benign Het
Med13l G A 5: 118,734,028 D842N probably damaging Het
Mef2c T A 13: 83,655,595 M306K probably damaging Het
Myb C T 10: 21,146,260 V377I probably benign Het
Myocd C T 11: 65,184,625 G558R possibly damaging Het
Nars G T 18: 64,504,968 A305E probably damaging Het
Neb A T 2: 52,196,361 N5233K probably benign Het
Nipsnap2 T C 5: 129,746,439 I181T possibly damaging Het
Olfr1496 T C 19: 13,781,573 probably benign Het
Olfr960 A T 9: 39,623,365 M81L probably benign Het
P3h2 A C 16: 25,987,248 C282G probably damaging Het
Pcgf5 T A 19: 36,442,868 C167S probably damaging Het
Pck2 T C 14: 55,544,069 probably benign Het
Peli2 C T 14: 48,252,730 R169* probably null Het
Pramef25 T A 4: 143,950,214 probably benign Het
Ralgapa2 T A 2: 146,421,739 Q686L possibly damaging Het
Scap C A 9: 110,362,420 P50H probably damaging Het
Sh3rf2 T A 18: 42,054,192 D125E possibly damaging Het
Slc25a38 T C 9: 120,116,494 probably benign Het
Slc35a5 A G 16: 45,143,832 V346A probably damaging Het
Smad4 T A 18: 73,675,809 N129I probably damaging Het
Sod2 C T 17: 13,013,577 A163V possibly damaging Het
Spred3 T A 7: 29,161,523 probably benign Het
Stag1 C A 9: 100,855,859 A423E possibly damaging Het
Stk17b A T 1: 53,761,037 S261T probably benign Het
Stx3 T C 19: 11,791,788 K58E probably damaging Het
Timm10b C A 7: 105,641,138 Y79* probably null Het
Tmem204 T C 17: 25,070,355 D97G probably damaging Het
Tnfrsf25 T C 4: 152,118,428 V181A probably benign Het
Trim54 T G 5: 31,136,958 S313A probably benign Het
Unc79 T A 12: 103,112,455 D1433E probably damaging Het
Vmn2r23 A G 6: 123,729,596 T462A probably benign Het
Wdr27 T A 17: 14,926,247 H162L probably damaging Het
Other mutations in Bcl2l15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03323:Bcl2l15 APN 3 103833403 missense probably benign 0.00
R0655:Bcl2l15 UTSW 3 103832969 critical splice donor site probably null
R0788:Bcl2l15 UTSW 3 103833478 critical splice donor site probably null
R1721:Bcl2l15 UTSW 3 103838598 utr 3 prime probably null
R1744:Bcl2l15 UTSW 3 103838540 missense probably damaging 1.00
R1867:Bcl2l15 UTSW 3 103838598 utr 3 prime probably null
R5632:Bcl2l15 UTSW 3 103836062 missense probably benign 0.01
R5850:Bcl2l15 UTSW 3 103836116 missense possibly damaging 0.79
R7485:Bcl2l15 UTSW 3 103833413 missense probably damaging 1.00
R7546:Bcl2l15 UTSW 3 103832887 missense probably benign 0.07
Posted On2013-06-28