Incidental Mutation 'R5037:Clic1'
ID 389599
Institutional Source Beutler Lab
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 # R5037 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35269219-35277695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35274235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 139 (V139I)
Ref Sequence ENSEMBL: ENSMUSP00000007257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007255] [ENSMUST00000007257] [ENSMUST00000173520] [ENSMUST00000174493]
AlphaFold Q9Z1Q5
Predicted Effect probably benign
Transcript: ENSMUST00000007255
SMART Domains Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039

DomainStartEndE-ValueType
PDB:2JAJ|B 1 282 1e-77 PDB
SCOP:d1h70a_ 13 277 1e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000007257
AA Change: V139I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000007257
Gene: ENSMUSG00000007041
AA Change: V139I

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: ENSMUST00000172599
Predicted Effect probably benign
Transcript: ENSMUST00000173520
SMART Domains Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039

DomainStartEndE-ValueType
Pfam:Amidinotransf 28 157 1.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174493
SMART Domains Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039

DomainStartEndE-ValueType
Pfam:Amidinotransf 30 232 5e-27 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btaf1 T C 19: 36,980,931 (GRCm39) V1584A probably damaging Het
Ccdc136 A T 6: 29,417,122 (GRCm39) S648C probably damaging Het
Ccna2 A G 3: 36,625,152 (GRCm39) probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cenpf T C 1: 189,416,043 (GRCm39) E94G probably damaging Het
Coasy A G 11: 100,975,648 (GRCm39) E327G probably damaging Het
Col6a5 C T 9: 105,805,337 (GRCm39) E1190K unknown Het
Cyp2c70 A G 19: 40,172,441 (GRCm39) V67A possibly damaging Het
Dglucy A G 12: 100,801,500 (GRCm39) S52G probably benign Het
Dync1h1 A G 12: 110,607,341 (GRCm39) N2644S probably benign Het
Eif4g2 A T 7: 110,676,239 (GRCm39) N347K probably benign Het
Epha10 T C 4: 124,809,178 (GRCm39) probably benign Het
Epm2aip1 T C 9: 111,101,218 (GRCm39) F64L probably benign Het
Eri2 G A 7: 119,384,897 (GRCm39) L535F probably benign Het
Garin5b T G 7: 4,761,575 (GRCm39) K379T possibly damaging Het
Gm17430 T C 18: 9,726,561 (GRCm39) E37G probably benign Het
Heatr5b T A 17: 79,131,939 (GRCm39) Q388L probably benign Het
Htr1f A G 16: 64,746,291 (GRCm39) W334R probably damaging Het
Icam4 A T 9: 20,940,937 (GRCm39) C717* probably null Het
Iqgap1 A C 7: 80,383,848 (GRCm39) L1072W probably damaging Het
Kbtbd11 G T 8: 15,077,886 (GRCm39) A162S probably benign Het
Kif13b T G 14: 64,996,038 (GRCm39) Y941* probably null Het
Kndc1 T C 7: 139,490,371 (GRCm39) V291A possibly damaging Het
Lrrn3 A T 12: 41,503,594 (GRCm39) I241N probably damaging Het
Macf1 A G 4: 123,349,312 (GRCm39) S2387P probably damaging Het
Msh5 A G 17: 35,251,369 (GRCm39) L451S possibly damaging Het
Mthfd1 T G 12: 76,340,914 (GRCm39) F258V probably damaging Het
Ncstn C T 1: 171,896,193 (GRCm39) R495H probably damaging Het
Or4k2 T G 14: 50,423,745 (GRCm39) T310P probably benign Het
Pkd1l3 T A 8: 110,392,268 (GRCm39) I1954N probably damaging Het
Ppox C A 1: 171,105,169 (GRCm39) V340L probably damaging Het
Prkag1 T C 15: 98,713,768 (GRCm39) T21A possibly damaging Het
Pygo1 C A 9: 72,852,199 (GRCm39) H129N probably damaging Het
Rad9a A T 19: 4,247,173 (GRCm39) C271S probably benign Het
Raph1 T C 1: 60,535,381 (GRCm39) probably null Het
Reln A G 5: 22,153,510 (GRCm39) F2265L probably damaging Het
Shc4 A G 2: 125,471,647 (GRCm39) I304T probably damaging Het
Slc35f3 T A 8: 127,116,011 (GRCm39) L313M probably damaging Het
Spata31g1 T A 4: 42,972,195 (GRCm39) H509Q probably benign Het
Spef1l A T 7: 139,558,587 (GRCm39) S3R possibly damaging Het
Sycp2l T A 13: 41,283,337 (GRCm39) M191K possibly damaging Het
Tmem132c C A 5: 127,630,199 (GRCm39) Q579K probably benign Het
Trbj2-5 A G 6: 41,520,394 (GRCm39) probably benign Het
Ttc38 A G 15: 85,728,741 (GRCm39) E231G probably benign Het
Utp20 A G 10: 88,611,192 (GRCm39) V1375A probably benign Het
Vcan T A 13: 89,852,096 (GRCm39) T955S probably damaging Het
Vmn1r89 T C 7: 12,953,314 (GRCm39) C17R possibly damaging Het
Wnk1 A G 6: 119,942,696 (GRCm39) probably benign Het
Zfp667 T G 7: 6,308,949 (GRCm39) I539S possibly damaging Het
Zfp738 T A 13: 67,818,320 (GRCm39) H557L probably damaging Het
Other mutations in Clic1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02404:Clic1 APN 17 35,271,852 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTAAACACCTGCACACATATGTC -3'
(R):5'- TAGAGATTGATCCCGTTTCCCC -3'

Sequencing Primer
(F):5'- TGCACACATATGTCACACAAAC -3'
(R):5'- TCATTGCCGTCCAGAAAC -3'
Posted On 2016-06-06