Incidental Mutation 'IGL01564:Clic4'
ID 90924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clic4
Ensembl Gene ENSMUSG00000037242
Gene Name chloride intracellular channel 4
Synonyms mc3s5, mtCLIC, D0Jmb3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01564
Quality Score
Status
Chromosome 4
Chromosomal Location 134941280-135000071 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134944504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 224 (A224T)
Ref Sequence ENSEMBL: ENSMUSP00000041453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037099]
AlphaFold Q9QYB1
Predicted Effect probably damaging
Transcript: ENSMUST00000037099
AA Change: A224T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000041453
Gene: ENSMUSG00000037242
AA Change: A224T

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T A 10: 80,442,693 (GRCm39) M177K probably damaging Het
Ankrd28 G T 14: 31,477,724 (GRCm39) T48K probably damaging Het
Capn3 T C 2: 120,311,189 (GRCm39) I112T probably damaging Het
Clec3a T A 8: 115,152,282 (GRCm39) I96N probably damaging Het
Eif2b3 T C 4: 116,885,739 (GRCm39) Y94H probably benign Het
Ep300 A T 15: 81,516,665 (GRCm39) probably benign Het
Errfi1 C A 4: 150,951,487 (GRCm39) T305N probably damaging Het
Fam131c T A 4: 141,106,984 (GRCm39) probably null Het
Fbxo11 G A 17: 88,310,324 (GRCm39) T494I probably benign Het
Homer2 T C 7: 81,268,320 (GRCm39) probably null Het
Hpf1 C A 8: 61,343,513 (GRCm39) probably benign Het
Hspa1b T C 17: 35,176,525 (GRCm39) N487D probably benign Het
Ikbke C A 1: 131,185,658 (GRCm39) A617S probably benign Het
Jade1 G T 3: 41,551,084 (GRCm39) R174S possibly damaging Het
Lcmt1 T C 7: 123,003,663 (GRCm39) F139S probably benign Het
Lipo2 T C 19: 33,698,424 (GRCm39) T318A probably benign Het
Lrp1b C T 2: 40,567,498 (GRCm39) probably benign Het
Lsm14a T C 7: 34,088,780 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,345 (GRCm39) D393G probably benign Het
Nfyb T C 10: 82,588,260 (GRCm39) Y137C probably damaging Het
Or10g1 T C 14: 52,648,299 (GRCm39) D10G probably benign Het
Or5d35 A T 2: 87,855,648 (GRCm39) H194L probably benign Het
Or5p55 T C 7: 107,567,198 (GRCm39) I198T probably benign Het
Scn3a A C 2: 65,291,790 (GRCm39) I1652S probably damaging Het
Slc33a1 C T 3: 63,850,768 (GRCm39) V519I probably benign Het
Strada G T 11: 106,064,118 (GRCm39) N66K probably damaging Het
Thoc2l A T 5: 104,668,529 (GRCm39) Y1017F probably benign Het
Tlr1 T A 5: 65,083,189 (GRCm39) I463F probably damaging Het
Tnfrsf19 G T 14: 61,212,058 (GRCm39) F197L possibly damaging Het
Tph1 T A 7: 46,300,305 (GRCm39) probably benign Het
Ttn A T 2: 76,646,922 (GRCm39) L3287H probably damaging Het
Vmn2r18 A T 5: 151,508,633 (GRCm39) S164T possibly damaging Het
Zan C T 5: 137,444,995 (GRCm39) V1755I unknown Het
Zmym4 T C 4: 126,805,073 (GRCm39) I396V possibly damaging Het
Other mutations in Clic4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5359:Clic4 UTSW 4 134,944,446 (GRCm39) missense probably benign 0.00
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
Posted On 2013-12-09