Incidental Mutation 'IGL02387:Clic6'
ID291587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clic6
Ensembl Gene ENSMUSG00000022949
Gene Namechloride intracellular channel 6
SynonymsCLIC1L, 5730466J16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL02387
Quality Score
Status
Chromosome16
Chromosomal Location92485736-92541243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92529919 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 464 (D464G)
Ref Sequence ENSEMBL: ENSMUSP00000023670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023670] [ENSMUST00000162181]
Predicted Effect probably damaging
Transcript: ENSMUST00000023670
AA Change: D464G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: D464G

DomainStartEndE-ValueType
low complexity region 38 46 N/A INTRINSIC
low complexity region 62 74 N/A INTRINSIC
low complexity region 83 108 N/A INTRINSIC
low complexity region 151 169 N/A INTRINSIC
low complexity region 193 213 N/A INTRINSIC
low complexity region 225 245 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
low complexity region 308 318 N/A INTRINSIC
Pfam:GST_N_3 375 447 2e-9 PFAM
Pfam:GST_C_2 478 567 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162181
SMART Domains Protein: ENSMUSP00000124498
Gene: ENSMUSG00000022949

DomainStartEndE-ValueType
Pfam:GST_N_3 34 100 2.8e-10 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,078,815 probably benign Het
Acap3 T G 4: 155,902,160 L311R probably damaging Het
Actr6 T A 10: 89,714,984 N316I probably damaging Het
Adarb2 T A 13: 8,569,958 V160E probably damaging Het
Atm A T 9: 53,479,766 probably null Het
Atp2b4 T C 1: 133,731,889 N445S probably damaging Het
Clk2 C T 3: 89,176,391 probably benign Het
Cyp4f40 A C 17: 32,668,010 T152P probably damaging Het
Dpp8 A T 9: 65,045,716 I225F probably damaging Het
Dspp A G 5: 104,175,624 Q211R possibly damaging Het
Gja1 T A 10: 56,387,806 V87E possibly damaging Het
Gm8165 T C 14: 43,676,239 E56G possibly damaging Het
Gstp2 T A 19: 4,041,094 probably benign Het
Gucy2e A G 11: 69,236,116 V177A probably benign Het
Insrr G A 3: 87,813,127 R1024H probably damaging Het
Iqgap2 A G 13: 95,689,701 W538R probably benign Het
Lrrc71 T C 3: 87,743,071 I232V probably damaging Het
Mphosph8 T A 14: 56,695,721 N808K probably damaging Het
Olfr1100 T A 2: 86,977,849 R316* probably null Het
Pak6 T C 2: 118,693,233 S290P probably benign Het
Ptpro C T 6: 137,410,980 A734V probably damaging Het
Reg1 A T 6: 78,427,338 N65I probably damaging Het
Rnf17 T G 14: 56,500,587 I1275S probably damaging Het
Sfrp5 C T 19: 42,199,029 V201I probably benign Het
Sgsm1 T A 5: 113,253,063 H987L possibly damaging Het
Shank1 A T 7: 44,356,937 Y2026F possibly damaging Het
Slc15a2 T C 16: 36,751,775 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar8a T A 10: 24,077,362 I288N possibly damaging Het
Tpbpb T G 13: 60,901,854 *121C probably null Het
Trim29 A T 9: 43,324,852 N460I probably benign Het
Trp53tg5 T A 2: 164,471,456 I100F possibly damaging Het
Ubr2 T C 17: 46,963,150 T871A probably benign Het
Vrk1 A G 12: 106,070,544 E363G probably damaging Het
Zfyve19 C T 2: 119,216,426 probably benign Het
Other mutations in Clic6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Clic6 APN 16 92499308 missense probably damaging 0.99
IGL02104:Clic6 APN 16 92498479 missense possibly damaging 0.72
IGL02437:Clic6 APN 16 92530929 missense probably damaging 1.00
IGL02617:Clic6 APN 16 92499318 missense probably benign 0.00
unsweetened UTSW 16 92530809 missense possibly damaging 0.79
R1544:Clic6 UTSW 16 92492073 intron probably benign
R1677:Clic6 UTSW 16 92528084 missense probably damaging 1.00
R2149:Clic6 UTSW 16 92499207 missense probably benign 0.00
R3965:Clic6 UTSW 16 92498844 missense probably benign 0.00
R4171:Clic6 UTSW 16 92497061 intron probably benign
R4545:Clic6 UTSW 16 92492157 intron probably benign
R4637:Clic6 UTSW 16 92497061 intron probably benign
R4649:Clic6 UTSW 16 92530939 critical splice donor site probably null
R5159:Clic6 UTSW 16 92528066 missense probably benign 0.13
R5249:Clic6 UTSW 16 92539451 missense probably damaging 1.00
R5486:Clic6 UTSW 16 92529852 splice site probably null
R5582:Clic6 UTSW 16 92499454 missense possibly damaging 0.93
R6140:Clic6 UTSW 16 92539492 missense probably damaging 1.00
R6234:Clic6 UTSW 16 92499222 missense probably benign
R6379:Clic6 UTSW 16 92539535 missense probably damaging 1.00
R6593:Clic6 UTSW 16 92528117 missense possibly damaging 0.82
R7890:Clic6 UTSW 16 92499387 missense probably benign 0.41
RF012:Clic6 UTSW 16 92530809 missense possibly damaging 0.79
X0058:Clic6 UTSW 16 92498707 missense probably benign
Z1176:Clic6 UTSW 16 92498895 missense probably benign 0.26
Z1177:Clic6 UTSW 16 92499139 missense probably benign 0.08
Posted On2015-04-16