Incidental Mutation 'R5359:Clic4'
ID 424229
Institutional Source Beutler Lab
Gene Symbol Clic4
Ensembl Gene ENSMUSG00000037242
Gene Name chloride intracellular channel 4
Synonyms mc3s5, mtCLIC, D0Jmb3
MMRRC Submission 042938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5359 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 134941280-135000071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134944446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 243 (A243V)
Ref Sequence ENSEMBL: ENSMUSP00000041453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037099]
AlphaFold Q9QYB1
Predicted Effect probably benign
Transcript: ENSMUST00000037099
AA Change: A243V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041453
Gene: ENSMUSG00000037242
AA Change: A243V

DomainStartEndE-ValueType
Pfam:GST_N_3 31 103 7.3e-9 PFAM
Pfam:GST_C_2 134 223 2.7e-10 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
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 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for null mutations may display decreased survival, body weight and female fertility, impaired angiogenesis, increased suscpetibility to Listeria infection, increased resistance to LPS treatment, skin erosions and/or delayed wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5b1 T A 19: 5,619,126 (GRCm39) I182N possibly damaging Het
Arap2 A T 5: 62,840,762 (GRCm39) C701* probably null Het
Bcr T A 10: 75,001,917 (GRCm39) F940L probably damaging Het
Cav2 A T 6: 17,287,064 (GRCm39) probably benign Het
Cdk2 T C 10: 128,539,857 (GRCm39) probably benign Het
Dap3 A T 3: 88,838,296 (GRCm39) V99D probably damaging Het
Dennd5a T C 7: 109,497,169 (GRCm39) E1110G probably damaging Het
Dhx30 T C 9: 109,922,203 (GRCm39) N160D probably damaging Het
Dnai7 T G 6: 145,142,618 (GRCm39) T120P probably damaging Het
Dock9 A G 14: 121,890,472 (GRCm39) M268T possibly damaging Het
Dspp T A 5: 104,323,752 (GRCm39) D298E probably damaging Het
Elane A G 10: 79,722,870 (GRCm39) E92G probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gbf1 T C 19: 46,272,164 (GRCm39) probably null Het
Gm1968 A T 16: 29,777,617 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,265,004 (GRCm39) V2729E probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Iqgap1 T C 7: 80,416,707 (GRCm39) T106A probably benign Het
Kcnj6 G C 16: 94,633,312 (GRCm39) Y248* probably null Het
Mllt3 A G 4: 87,759,164 (GRCm39) S295P probably benign Het
Or2w1b A C 13: 21,300,437 (GRCm39) T192P probably damaging Het
Pex11b G A 3: 96,551,229 (GRCm39) C224Y probably damaging Het
Pik3c2g A G 6: 139,599,121 (GRCm39) Y79C probably damaging Het
Plcz1 T C 6: 139,974,178 (GRCm39) Y88C probably damaging Het
Pole A G 5: 110,480,354 (GRCm39) N99S probably benign Het
Pyroxd1 T G 6: 142,307,717 (GRCm39) Y496D probably damaging Het
Rasef A G 4: 73,689,565 (GRCm39) L68P probably damaging Het
Rgs13 T A 1: 144,015,322 (GRCm39) M132L probably damaging Het
RP24-187P11.4 T G 9: 109,349,944 (GRCm39) noncoding transcript Het
Rsph4a A G 10: 33,784,232 (GRCm39) T285A probably benign Het
Ryr3 A T 2: 112,606,186 (GRCm39) probably null Het
Slc30a1 T A 1: 191,641,865 (GRCm39) *504R probably null Het
Spcs1 T C 14: 30,722,074 (GRCm39) R156G probably damaging Het
Supv3l1 A G 10: 62,268,178 (GRCm39) F556L probably damaging Het
Thumpd2 C T 17: 81,334,206 (GRCm39) V461M probably benign Het
Timm50 A G 7: 28,007,592 (GRCm39) L158P probably damaging Het
Tnrc6c T C 11: 117,649,731 (GRCm39) silent Het
Ttn G A 2: 76,726,147 (GRCm39) Q1807* probably null Het
Zdhhc14 A G 17: 5,543,821 (GRCm39) I34V probably benign Het
Zgrf1 T A 3: 127,394,814 (GRCm39) M506K possibly damaging Het
Other mutations in Clic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Clic4 APN 4 134,944,504 (GRCm39) missense probably damaging 0.99
IGL01674:Clic4 APN 4 134,966,204 (GRCm39) missense probably benign 0.01
IGL03343:Clic4 APN 4 134,945,889 (GRCm39) missense possibly damaging 0.91
IGL03372:Clic4 APN 4 134,945,925 (GRCm39) missense probably damaging 0.99
R1643:Clic4 UTSW 4 134,966,206 (GRCm39) missense possibly damaging 0.69
R2201:Clic4 UTSW 4 134,950,850 (GRCm39) missense probably damaging 1.00
R4181:Clic4 UTSW 4 134,953,350 (GRCm39) missense probably benign 0.00
R4302:Clic4 UTSW 4 134,953,350 (GRCm39) missense probably benign 0.00
R4335:Clic4 UTSW 4 134,945,916 (GRCm39) missense probably benign 0.15
R4600:Clic4 UTSW 4 134,966,300 (GRCm39) splice site probably null
R4939:Clic4 UTSW 4 134,950,852 (GRCm39) missense probably benign 0.16
R5437:Clic4 UTSW 4 134,944,557 (GRCm39) missense probably damaging 1.00
R5902:Clic4 UTSW 4 134,999,869 (GRCm39) missense probably benign
R7670:Clic4 UTSW 4 134,944,516 (GRCm39) missense probably damaging 1.00
R9630:Clic4 UTSW 4 134,944,476 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTGCTCAGGAGTGTGTACTG -3'
(R):5'- CCAGTCAGACATGCCTCATG -3'

Sequencing Primer
(F):5'- TGTACTGGAGAGGCCTACTC -3'
(R):5'- CATGCCTCATGTGGGGAC -3'
Posted On 2016-08-04