Incidental Mutation 'R6234:Clic6'
ID 504836
Institutional Source Beutler Lab
Gene Symbol Clic6
Ensembl Gene ENSMUSG00000022949
Gene Name chloride intracellular channel 6
Synonyms CLIC1L, 5730466J16Rik
MMRRC Submission 044399-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R6234 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 92295035-92338129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92296110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 257 (S257P)
Ref Sequence ENSEMBL: ENSMUSP00000023670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023670] [ENSMUST00000162181]
AlphaFold Q8BHB9
Predicted Effect probably benign
Transcript: ENSMUST00000023670
AA Change: S257P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: S257P

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adgb A C 10: 10,228,824 (GRCm39) probably null Het
Aldoart1 A G 4: 72,770,409 (GRCm39) I78T probably damaging Het
Bcl2l2 A G 14: 55,122,245 (GRCm39) D136G probably benign Het
Bltp1 A G 3: 37,037,620 (GRCm39) T2475A probably benign Het
Cd34 A T 1: 194,630,308 (GRCm39) I81F probably damaging Het
Chmp1b T A 18: 67,339,169 (GRCm39) *200R probably null Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Eef1akmt2 T C 7: 132,429,585 (GRCm39) T215A probably damaging Het
Fbrsl1 G A 5: 110,525,917 (GRCm39) T95I probably damaging Het
Fer1l6 T C 15: 58,432,488 (GRCm39) I345T probably damaging Het
Fmn1 T C 2: 113,196,000 (GRCm39) F567L unknown Het
Ftdc1 T A 16: 58,435,034 (GRCm39) D97V probably benign Het
Gabrg1 A T 5: 70,999,484 (GRCm39) L22I probably benign Het
Gfm1 A G 3: 67,342,847 (GRCm39) D127G probably damaging Het
Gm5114 T A 7: 39,058,768 (GRCm39) T284S probably benign Het
Gm9925 A T 18: 74,198,308 (GRCm39) probably benign Het
Hc T C 2: 34,918,058 (GRCm39) I742V probably benign Het
Heatr5a A T 12: 51,924,237 (GRCm39) M1992K possibly damaging Het
Homer3 T C 8: 70,743,815 (GRCm39) probably null Het
Hsf5 C G 11: 87,508,120 (GRCm39) T8S probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Il21r A G 7: 125,231,757 (GRCm39) D395G probably damaging Het
Kctd14 T A 7: 97,107,219 (GRCm39) V190E probably damaging Het
Mamdc4 C G 2: 25,460,092 (GRCm39) G57A probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a T C 1: 88,184,476 (GRCm39) V1453A probably benign Het
Mtch1 A T 17: 29,559,485 (GRCm39) probably null Het
Nasp G A 4: 116,479,979 (GRCm39) A31V possibly damaging Het
Neil3 G T 8: 54,061,774 (GRCm39) D202E probably damaging Het
Nfkb1 C T 3: 135,332,471 (GRCm39) V95I possibly damaging Het
Ptpra T A 2: 130,379,508 (GRCm39) M327K probably damaging Het
Ptprg C A 14: 12,213,747 (GRCm38) F263L probably damaging Het
Sap30 A G 8: 57,938,152 (GRCm39) V155A probably damaging Het
Serpinb2 G A 1: 107,452,501 (GRCm39) V360M probably damaging Het
Stradb A G 1: 59,027,707 (GRCm39) H79R probably damaging Het
Svep1 A T 4: 58,113,458 (GRCm39) probably null Het
Tcaf2 A T 6: 42,607,308 (GRCm39) H215Q probably benign Het
Tdrd5 A T 1: 156,120,947 (GRCm39) S227T possibly damaging Het
Timmdc1 A T 16: 38,338,861 (GRCm39) Y76* probably null Het
Tmbim4 T A 10: 120,057,628 (GRCm39) probably null Het
Tpr A G 1: 150,293,790 (GRCm39) K854R probably benign Het
Trav6-5 A G 14: 53,728,832 (GRCm39) T30A probably benign Het
Trrap T A 5: 144,776,523 (GRCm39) probably null Het
Ube2o A T 11: 116,430,316 (GRCm39) S1141T probably benign Het
Usp54 T A 14: 20,633,518 (GRCm39) K339I probably damaging Het
Vwf T G 6: 125,634,128 (GRCm39) V202G unknown Het
Wdr7 T C 18: 63,857,203 (GRCm39) L93P probably damaging Het
Zfp871 CCACAC CC 17: 32,994,494 (GRCm39) probably null Het
Other mutations in Clic6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Clic6 APN 16 92,296,196 (GRCm39) missense probably damaging 0.99
IGL02104:Clic6 APN 16 92,295,367 (GRCm39) missense possibly damaging 0.72
IGL02387:Clic6 APN 16 92,326,807 (GRCm39) missense probably damaging 1.00
IGL02437:Clic6 APN 16 92,327,817 (GRCm39) missense probably damaging 1.00
IGL02617:Clic6 APN 16 92,296,206 (GRCm39) missense probably benign 0.00
unsweetened UTSW 16 92,327,697 (GRCm39) missense possibly damaging 0.79
R1544:Clic6 UTSW 16 92,288,961 (GRCm39) intron probably benign
R1677:Clic6 UTSW 16 92,324,972 (GRCm39) missense probably damaging 1.00
R2149:Clic6 UTSW 16 92,296,095 (GRCm39) missense probably benign 0.00
R3965:Clic6 UTSW 16 92,295,732 (GRCm39) missense probably benign 0.00
R4171:Clic6 UTSW 16 92,293,949 (GRCm39) intron probably benign
R4545:Clic6 UTSW 16 92,289,045 (GRCm39) intron probably benign
R4637:Clic6 UTSW 16 92,293,949 (GRCm39) intron probably benign
R4649:Clic6 UTSW 16 92,327,827 (GRCm39) critical splice donor site probably null
R5159:Clic6 UTSW 16 92,324,954 (GRCm39) missense probably benign 0.13
R5249:Clic6 UTSW 16 92,336,339 (GRCm39) missense probably damaging 1.00
R5486:Clic6 UTSW 16 92,326,740 (GRCm39) splice site probably null
R5582:Clic6 UTSW 16 92,296,342 (GRCm39) missense possibly damaging 0.93
R6140:Clic6 UTSW 16 92,336,380 (GRCm39) missense probably damaging 1.00
R6379:Clic6 UTSW 16 92,336,423 (GRCm39) missense probably damaging 1.00
R6593:Clic6 UTSW 16 92,325,005 (GRCm39) missense possibly damaging 0.82
R7890:Clic6 UTSW 16 92,296,275 (GRCm39) missense probably benign 0.41
R8794:Clic6 UTSW 16 92,324,987 (GRCm39) missense possibly damaging 0.91
R8937:Clic6 UTSW 16 92,296,245 (GRCm39) missense probably damaging 0.98
R9450:Clic6 UTSW 16 92,327,644 (GRCm39) missense possibly damaging 0.95
R9502:Clic6 UTSW 16 92,295,588 (GRCm39) missense probably damaging 1.00
RF012:Clic6 UTSW 16 92,327,697 (GRCm39) missense possibly damaging 0.79
X0058:Clic6 UTSW 16 92,295,595 (GRCm39) missense probably benign
Z1176:Clic6 UTSW 16 92,295,783 (GRCm39) missense probably benign 0.26
Z1177:Clic6 UTSW 16 92,296,027 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GACTTGCAGGGGACAACATG -3'
(R):5'- AAGTGGTTGCTGAGCTCTGC -3'

Sequencing Primer
(F):5'- CCACTTGGGTCGGAGAGTGAG -3'
(R):5'- CTGAGCTCTGCCTGGGATTC -3'
Posted On 2018-02-28