Incidental Mutation 'IGL03323:Bcl2l15'
ID416558
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: 0.061) question?
Stock #IGL03323
Quality Score
Status
Chromosome3
Chromosomal Location103832601-103854618 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103833403 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 62 (I62L)
Ref Sequence ENSEMBL: ENSMUSP00000102435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062945] [ENSMUST00000106822] [ENSMUST00000199710]
Predicted Effect probably benign
Transcript: ENSMUST00000062945
AA Change: I62L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052210
Gene: ENSMUSG00000044165
AA Change: I62L

DomainStartEndE-ValueType
Blast:BCL 60 162 2e-54 BLAST
SCOP:d1k3ka_ 61 165 5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106822
AA Change: I62L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102435
Gene: ENSMUSG00000044165
AA Change: I62L

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A T 14: 103,055,294 D418V probably damaging Het
Ahdc1 G A 4: 133,065,428 G1327S probably benign Het
Ccdc7a A T 8: 129,058,763 D105E probably benign Het
Cldn12 C A 5: 5,508,421 G2V probably damaging Het
Eapp G T 12: 54,673,615 H272N probably damaging Het
Fcrla A G 1: 170,927,545 probably benign Het
Fmnl3 C T 15: 99,321,281 G787S probably damaging Het
Fmo5 G T 3: 97,639,007 probably null Het
Golgb1 G T 16: 36,913,453 E1021* probably null Het
Hspa4 A T 11: 53,265,133 N648K probably benign Het
Iigp1 T C 18: 60,389,824 F5L probably benign Het
Lad1 T A 1: 135,830,974 probably null Het
Man2b2 T C 5: 36,818,514 D399G probably benign Het
Mc5r C T 18: 68,339,215 T215I probably benign Het
Mx2 A G 16: 97,546,375 S156G probably damaging Het
Necap2 A T 4: 141,068,222 I242N possibly damaging Het
Nme8 C T 13: 19,688,950 E175K probably benign Het
Notch4 T A 17: 34,582,471 C1098S probably damaging Het
Olfr345 T A 2: 36,640,141 M34K possibly damaging Het
Olfr8 T C 10: 78,955,600 Y132H probably benign Het
Osbpl9 A G 4: 109,062,459 probably benign Het
Prag1 T C 8: 36,140,008 S968P probably damaging Het
Qsox2 A G 2: 26,220,979 S125P probably benign Het
Rptn A G 3: 93,397,153 T598A probably benign Het
Slc2a2 G A 3: 28,726,290 M375I probably damaging Het
Tmed9 C T 13: 55,596,878 T173I probably damaging Het
Trank1 A G 9: 111,352,116 D402G probably damaging Het
Ttc21a G T 9: 119,940,536 probably benign Het
Vmn2r58 T C 7: 41,861,871 M503V probably benign Het
Other mutations in Bcl2l15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Bcl2l15 APN 3 103833414 missense probably damaging 1.00
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 On2016-08-02