Incidental Mutation 'IGL02404:Clic1'
ID291996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clic1
Ensembl Gene ENSMUSG00000007041
Gene Namechloride intracellular channel 1
SynonymsG6, Clcp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #IGL02404
Quality Score
Status
Chromosome17
Chromosomal Location35049966-35058749 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35052876 bp
ZygosityHeterozygous
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]
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
2410089E03Rik T C 15: 8,187,284 I662T possibly damaging Het
Adcy6 T C 15: 98,596,938 I745V probably benign Het
Alppl2 A G 1: 87,088,863 V163A possibly damaging Het
Atad2b T A 12: 4,941,972 S190R probably benign Het
Cep68 A G 11: 20,240,004 V336A possibly damaging Het
Clcn4 A C 7: 7,287,858 N587K probably benign Het
Cnbd1 T C 4: 18,895,047 S232G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Daw1 A G 1: 83,197,231 T151A probably benign Het
Dysf A G 6: 84,116,061 E1052G probably damaging Het
Gpr12 G A 5: 146,583,923 A63V probably damaging Het
Inmt C T 6: 55,171,110 R178Q possibly damaging Het
Metap1 A T 3: 138,489,308 C22S probably damaging Het
Mst1r A T 9: 107,913,067 probably benign Het
Olfr699 A C 7: 106,790,359 I214S probably damaging Het
Phkb T C 8: 85,878,115 S58P possibly damaging Het
Pigs T A 11: 78,340,031 I368N probably benign Het
Plekhm1 C T 11: 103,394,998 D204N probably benign Het
Pot1a A T 6: 25,764,432 probably benign Het
Rps4l A G 6: 148,354,779 probably benign Het
Scn8a T A 15: 101,039,730 M1660K probably damaging Het
Sec31b A C 19: 44,534,788 V23G probably damaging Het
Sorcs3 T C 19: 48,704,370 probably benign Het
Thap12 A G 7: 98,710,133 Y73C probably damaging Het
Thsd7b G A 1: 129,613,151 C254Y probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn T A 2: 76,939,978 N2623I possibly damaging Het
Ulk1 A T 5: 110,796,234 probably null Het
Vps13d T C 4: 145,148,735 Y1734C probably damaging Het
Vsig10l A G 7: 43,463,747 D143G possibly damaging Het
Wac A G 18: 7,917,570 T347A probably damaging Het
Wdr62 G T 7: 30,267,873 R319S probably damaging Het
Zfp668 T C 7: 127,866,360 K551E probably damaging Het
Other mutations in Clic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4507:Clic1 UTSW 17 35052785 missense probably benign 0.10
R4779:Clic1 UTSW 17 35052487 missense probably damaging 1.00
R5037:Clic1 UTSW 17 35055259 missense probably benign 0.00
R6767:Clic1 UTSW 17 35053053 missense probably benign 0.05
Posted On2015-04-16