Incidental Mutation 'R7169:Clic3'
ID 558097
Institutional Source Beutler Lab
Gene Symbol Clic3
Ensembl Gene ENSMUSG00000015093
Gene Name chloride intracellular channel 3
Synonyms 2300003G24Rik
MMRRC Submission 045229-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.156) question?
Stock # R7169 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25346855-25348789 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25348731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 237 (R237H)
Ref Sequence ENSEMBL: ENSMUSP00000109904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102918] [ENSMUST00000114261] [ENSMUST00000114265] [ENSMUST00000151239]
AlphaFold Q9D7P7
Predicted Effect probably benign
Transcript: ENSMUST00000102918
AA Change: R235H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099982
Gene: ENSMUSG00000015093
AA Change: R235H

DomainStartEndE-ValueType
Pfam:GST_N_3 17 89 9.8e-11 PFAM
Pfam:GST_N_2 20 84 1.6e-8 PFAM
Pfam:GST_C_2 77 207 6.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114261
SMART Domains Protein: ENSMUSP00000109899
Gene: ENSMUSG00000047617

DomainStartEndE-ValueType
Pfam:PAXX 10 205 5.7e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114265
AA Change: R237H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109904
Gene: ENSMUSG00000015093
AA Change: R237H

DomainStartEndE-ValueType
Pfam:GST_N_3 19 91 2e-11 PFAM
Pfam:GST_N_2 22 86 3.6e-9 PFAM
Pfam:GST_C_2 80 209 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151239
SMART Domains Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617

DomainStartEndE-ValueType
Pfam:DUF4610 8 156 2.2e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 3 is a member of the p64 family and is predominantly localized in the nucleus and stimulates chloride ion channel activity. In addition, this protein may participate in cellular growth control, based on its association with ERK7, a member of the MAP kinase family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,040,707 (GRCm39) V870A probably damaging Het
Ahi1 T G 10: 20,930,918 (GRCm39) D919E probably damaging Het
Angptl6 T A 9: 20,786,475 (GRCm39) R390S probably damaging Het
Arhgef11 A G 3: 87,634,755 (GRCm39) I873V possibly damaging Het
BC024063 T C 10: 81,946,293 (GRCm39) Y638H possibly damaging Het
Brsk1 T C 7: 4,718,403 (GRCm39) S751P probably benign Het
Calhm5 T A 10: 33,968,160 (GRCm39) T298S probably damaging Het
Cdh20 G A 1: 104,875,078 (GRCm39) A287T possibly damaging Het
Cog6 G T 3: 52,897,387 (GRCm39) P562H possibly damaging Het
Csnk2a2 A G 8: 96,215,006 (GRCm39) Y24H Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Cyria A G 12: 12,409,233 (GRCm39) D71G possibly damaging Het
Dennd6b A T 15: 89,073,055 (GRCm39) F161I possibly damaging Het
Dnah14 G T 1: 181,529,930 (GRCm39) V2235L probably benign Het
Dnah6 A T 6: 73,015,729 (GRCm39) V3636D probably damaging Het
Dpm1 A T 2: 168,053,343 (GRCm39) Y207* probably null Het
Eml3 A G 19: 8,910,828 (GRCm39) T227A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eppk1 C A 15: 75,990,114 (GRCm39) A2256S probably benign Het
Etnppl A T 3: 130,414,345 (GRCm39) N80I probably damaging Het
Eya4 A T 10: 23,031,845 (GRCm39) N236K probably benign Het
Gm12886 T G 4: 121,273,948 (GRCm39) Q89H probably damaging Het
Gsdme T C 6: 50,204,358 (GRCm39) T200A probably benign Het
Hipk1 C T 3: 103,651,533 (GRCm39) A1122T probably benign Het
Icos A G 1: 61,034,705 (GRCm39) D176G probably damaging Het
Igkv5-43 T A 6: 69,800,519 (GRCm39) Y56F probably damaging Het
Il1r1 T C 1: 40,332,519 (GRCm39) probably null Het
Ildr2 G A 1: 166,135,503 (GRCm39) probably null Het
Ilf3 T A 9: 21,306,722 (GRCm39) H305Q probably damaging Het
Insrr A G 3: 87,715,901 (GRCm39) H532R probably benign Het
Lmbr1l CACTACATACTACATACTACATACTACATACTACATACTACATAC CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC 15: 98,807,039 (GRCm39) probably null Het
Lmbr1l ACTACAT ACTACATGCTACAT 15: 98,807,075 (GRCm39) probably benign Het
Lratd1 A G 12: 14,200,619 (GRCm39) F36S probably damaging Het
Lrrc25 T G 8: 71,070,437 (GRCm39) S73A probably benign Het
Lrrn1 T C 6: 107,544,565 (GRCm39) L121P probably damaging Het
Ly6c1 C A 15: 74,916,495 (GRCm39) V116L probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Mroh7 T A 4: 106,548,836 (GRCm39) D1009V probably damaging Het
Mybpc3 T C 2: 90,948,524 (GRCm39) V4A possibly damaging Het
Mycbp2 A G 14: 103,497,636 (GRCm39) S979P possibly damaging Het
Ntn5 C T 7: 45,336,198 (GRCm39) R210* probably null Het
Nuak1 T C 10: 84,210,609 (GRCm39) D493G probably damaging Het
Oprk1 T A 1: 5,659,304 (GRCm39) D11E probably benign Het
Or13a1 G T 6: 116,471,025 (GRCm39) A152S probably benign Het
Or4f14 A G 2: 111,742,939 (GRCm39) M112T possibly damaging Het
Or4k37 T A 2: 111,158,943 (GRCm39) Y60N probably damaging Het
Or56a41 T C 7: 104,740,397 (GRCm39) I150V possibly damaging Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pkm A G 9: 59,578,908 (GRCm39) D296G possibly damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pop5 T A 5: 115,378,287 (GRCm39) V77E possibly damaging Het
Ppp1r10 T C 17: 36,240,365 (GRCm39) S552P probably damaging Het
Rabggta C G 14: 55,958,358 (GRCm39) R101P probably damaging Het
Rorc A T 3: 94,296,487 (GRCm39) E243V probably benign Het
Setmar C A 6: 108,042,049 (GRCm39) A3E possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc12a7 G A 13: 73,932,679 (GRCm39) V56M probably benign Het
Snph T A 2: 151,436,307 (GRCm39) N207I probably damaging Het
Snx14 A G 9: 88,280,362 (GRCm39) V531A probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tlr3 A T 8: 45,850,056 (GRCm39) M871K probably damaging Het
Tnfrsf11a A T 1: 105,772,421 (GRCm39) R569S possibly damaging Het
Trim66 A G 7: 109,054,328 (GRCm39) V1294A probably benign Het
Vldlr G A 19: 27,221,728 (GRCm39) V698I probably benign Het
Vmn2r73 G A 7: 85,507,663 (GRCm39) Q550* probably null Het
Zdhhc5 A T 2: 84,532,675 (GRCm39) probably null Het
Zfhx3 T A 8: 109,678,030 (GRCm39) Y3027N possibly damaging Het
Zfp663 C T 2: 165,194,359 (GRCm39) S620N probably benign Het
Other mutations in Clic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
knife UTSW 2 25,347,779 (GRCm39) missense possibly damaging 0.94
R0491:Clic3 UTSW 2 25,347,797 (GRCm39) unclassified probably benign
R0533:Clic3 UTSW 2 25,348,150 (GRCm39) missense probably damaging 1.00
R4798:Clic3 UTSW 2 25,348,194 (GRCm39) missense probably damaging 1.00
R4940:Clic3 UTSW 2 25,347,929 (GRCm39) missense probably benign 0.00
R5579:Clic3 UTSW 2 25,348,319 (GRCm39) missense probably damaging 0.99
R5713:Clic3 UTSW 2 25,348,179 (GRCm39) missense probably damaging 1.00
R6669:Clic3 UTSW 2 25,347,779 (GRCm39) missense possibly damaging 0.94
R8033:Clic3 UTSW 2 25,348,617 (GRCm39) missense probably benign 0.00
R9131:Clic3 UTSW 2 25,348,325 (GRCm39) missense probably benign 0.00
R9457:Clic3 UTSW 2 25,347,730 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTTGGCTGACTGCAGTCTAC -3'
(R):5'- AGTGGACTCTCTTGTCTTCAGC -3'

Sequencing Primer
(F):5'- CCAAGCTGCACATTGTGGATG -3'
(R):5'- TTCAGCATTTGGGGACACC -3'
Posted On 2019-06-26