Incidental Mutation 'IGL02104:Clic6'
ID279909
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: 0.145) question?
Stock #IGL02104
Quality Score
Status
Chromosome16
Chromosomal Location92485736-92541243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 92498479 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 9 (E9G)
Ref Sequence ENSEMBL: ENSMUSP00000023670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023670] [ENSMUST00000162181]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023670
AA Change: E9G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: E9G

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 noncoding transcript
Transcript: ENSMUST00000160494
SMART Domains Protein: ENSMUSP00000123968
Gene: ENSMUSG00000051297

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 125,331,542 noncoding transcript Het
Abcb5 T A 12: 118,940,680 Q125L probably damaging Het
Acap3 G A 4: 155,905,085 R662H probably damaging Het
Aox4 T A 1: 58,236,657 probably benign Het
Aqp6 T C 15: 99,604,278 S285P probably benign Het
Arhgef5 A T 6: 43,272,411 Q32L probably damaging Het
B3gnt6 G T 7: 98,194,101 D217E probably damaging Het
Chd6 T C 2: 160,977,512 I1338V probably benign Het
Col11a1 T A 3: 114,181,397 probably null Het
Dcdc2b T A 4: 129,611,074 D88V probably benign Het
Dis3l T A 9: 64,310,329 K791N possibly damaging Het
Dmxl2 A T 9: 54,404,015 Y1008* probably null Het
Dnah11 A G 12: 118,192,390 V175A probably benign Het
Efl1 A G 7: 82,658,055 probably null Het
Fam117b C T 1: 59,949,119 T219I probably benign Het
Fgf21 T A 7: 45,615,224 Q28L probably benign Het
Folh1 T C 7: 86,744,430 Q391R possibly damaging Het
Gars A G 6: 55,077,697 D663G probably damaging Het
Lats2 A G 14: 57,734,012 F69L probably damaging Het
Lrp2 C T 2: 69,510,418 V1038M probably damaging Het
Map3k1 A T 13: 111,756,243 V826E probably damaging Het
Mapkap1 T A 2: 34,623,470 Y497* probably null Het
Mast3 T C 8: 70,787,906 I296V possibly damaging Het
Mon1a T G 9: 107,901,615 L346R probably damaging Het
Mphosph8 T C 14: 56,674,579 L353S probably benign Het
Muc5ac T C 7: 141,811,078 Y2634H probably damaging Het
Mylk A G 16: 34,815,435 T9A probably benign Het
Olfr1031 G T 2: 85,992,386 D190Y probably damaging Het
Olfr1440 T A 19: 12,394,899 V212D probably damaging Het
Olfr1484 T A 19: 13,585,604 M57K probably damaging Het
Olfr418 T C 1: 173,271,036 V287A probably damaging Het
Olfr543 C A 7: 102,477,337 V178F probably damaging Het
Olfr761 A C 17: 37,952,291 H244Q probably damaging Het
Olfr843 A T 9: 19,248,870 H176Q probably benign Het
Pabpc2 A C 18: 39,774,883 Q400H possibly damaging Het
Pigg A G 5: 108,342,097 Y856C probably damaging Het
Plekhn1 A T 4: 156,222,408 V508E probably benign Het
Pom121l2 C A 13: 21,982,275 H239N possibly damaging Het
Prdm2 A G 4: 143,133,427 S1098P probably benign Het
Rnf212 A G 5: 108,747,440 I41T possibly damaging Het
Rngtt A G 4: 33,320,517 probably null Het
Rpn2 C T 2: 157,321,827 T613M probably damaging Het
Scd4 G T 19: 44,344,747 V304F possibly damaging Het
Sez6l A G 5: 112,426,764 probably benign Het
Shroom3 A G 5: 92,940,389 R158G probably benign Het
Stil T C 4: 115,041,482 L1103P probably damaging Het
Tanc2 T C 11: 105,780,133 probably benign Het
Tmc1 C T 19: 20,832,454 D255N probably benign Het
Trank1 C A 9: 111,390,712 D2172E possibly damaging Het
Tyro3 G A 2: 119,813,200 R718H probably damaging Het
Vamp2 C A 11: 69,090,657 F114L probably benign Het
Wdr66 T A 5: 123,302,698 L1106* probably null Het
Other mutations in Clic6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Clic6 APN 16 92499308 missense probably damaging 0.99
IGL02387:Clic6 APN 16 92529919 missense probably damaging 1.00
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