Incidental Mutation 'IGL02404:Clic1'
ID 291996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clic1
Ensembl Gene ENSMUSG00000007041
Gene Name chloride intracellular channel 1
Synonyms G6, Clcp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL02404
Quality Score
Status
Chromosome 17
Chromosomal Location 35269219-35277695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35271852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 82 (E82G)
Ref Sequence ENSEMBL: ENSMUSP00000007257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007257]
AlphaFold Q9Z1Q5
Predicted Effect probably damaging
Transcript: ENSMUST00000007257
AA Change: E82G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007257
Gene: ENSMUSG00000007041
AA Change: E82G

DomainStartEndE-ValueType
Pfam:GST_N_3 21 92 4.8e-11 PFAM
Pfam:GST_N_2 23 87 3.3e-10 PFAM
Pfam:GST_C_2 123 212 3.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172599
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1 is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice Homozygous for disruptions in this gene display abnormal platelet number, activation and aggregation and prolonged bleeding time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,494,819 (GRCm39) I745V probably benign Het
Alppl2 A G 1: 87,016,585 (GRCm39) V163A possibly damaging Het
Atad2b T A 12: 4,991,972 (GRCm39) S190R probably benign Het
Cep68 A G 11: 20,190,004 (GRCm39) V336A possibly damaging Het
Clcn4 A C 7: 7,290,857 (GRCm39) N587K probably benign Het
Cnbd1 T C 4: 18,895,047 (GRCm39) S232G possibly damaging Het
Cplane1 T C 15: 8,216,768 (GRCm39) I662T possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Daw1 A G 1: 83,174,952 (GRCm39) T151A probably benign Het
Dysf A G 6: 84,093,043 (GRCm39) E1052G probably damaging Het
Gpr12 G A 5: 146,520,733 (GRCm39) A63V probably damaging Het
Inmt C T 6: 55,148,095 (GRCm39) R178Q possibly damaging Het
Metap1 A T 3: 138,195,069 (GRCm39) C22S probably damaging Het
Mst1r A T 9: 107,790,266 (GRCm39) probably benign Het
Or2ag17 A C 7: 106,389,566 (GRCm39) I214S probably damaging Het
Phkb T C 8: 86,604,744 (GRCm39) S58P possibly damaging Het
Pigs T A 11: 78,230,857 (GRCm39) I368N probably benign Het
Plekhm1 C T 11: 103,285,824 (GRCm39) D204N probably benign Het
Pot1a A T 6: 25,764,431 (GRCm39) probably benign Het
Rps4l A G 6: 148,256,277 (GRCm39) probably benign Het
Scn8a T A 15: 100,937,611 (GRCm39) M1660K probably damaging Het
Sec31b A C 19: 44,523,227 (GRCm39) V23G probably damaging Het
Sorcs3 T C 19: 48,692,809 (GRCm39) probably benign Het
Thap12 A G 7: 98,359,340 (GRCm39) Y73C probably damaging Het
Thsd7b G A 1: 129,540,888 (GRCm39) C254Y probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn T A 2: 76,770,322 (GRCm39) N2623I possibly damaging Het
Ulk1 A T 5: 110,944,100 (GRCm39) probably null Het
Vps13d T C 4: 144,875,305 (GRCm39) Y1734C probably damaging Het
Vsig10l A G 7: 43,113,171 (GRCm39) D143G possibly damaging Het
Wac A G 18: 7,917,570 (GRCm39) T347A probably damaging Het
Wdr62 G T 7: 29,967,298 (GRCm39) R319S probably damaging Het
Zfp668 T C 7: 127,465,532 (GRCm39) K551E probably damaging Het
Other mutations in Clic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4507:Clic1 UTSW 17 35,271,761 (GRCm39) missense probably benign 0.10
R4779:Clic1 UTSW 17 35,271,463 (GRCm39) missense probably damaging 1.00
R5037:Clic1 UTSW 17 35,274,235 (GRCm39) missense probably benign 0.00
R6767:Clic1 UTSW 17 35,272,029 (GRCm39) missense probably benign 0.05
R8742:Clic1 UTSW 17 35,274,356 (GRCm39) missense probably benign 0.37
R8969:Clic1 UTSW 17 35,274,386 (GRCm39) critical splice donor site probably null
Z1176:Clic1 UTSW 17 35,271,435 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16