Incidental Mutation 'R4798:Clic3'
ID369180
Institutional Source Beutler Lab
Gene Symbol Clic3
Ensembl Gene ENSMUSG00000015093
Gene Namechloride intracellular channel 3
Synonyms
MMRRC Submission 042422-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #R4798 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location25456838-25458776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 25458182 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 114 (S114P)
Ref Sequence ENSEMBL: ENSMUSP00000109904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102918] [ENSMUST00000114261] [ENSMUST00000114265] [ENSMUST00000151239]
Predicted Effect probably damaging
Transcript: ENSMUST00000102918
AA Change: S112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099982
Gene: ENSMUSG00000015093
AA Change: S112P

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 damaging
Transcript: ENSMUST00000114265
AA Change: S114P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109904
Gene: ENSMUSG00000015093
AA Change: S114P

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 noncoding transcript
Transcript: ENSMUST00000123986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143862
Predicted Effect probably benign
Transcript: ENSMUST00000151239
SMART Domains Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617

DomainStartEndE-ValueType
Pfam:DUF4610 8 156 2.2e-64 PFAM
Meta Mutation Damage Score 0.548 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (111/114)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A T 1: 37,624,965 D617E probably benign Het
2210408I21Rik T C 13: 77,323,724 W1083R possibly damaging Het
Adamts10 T A 17: 33,528,752 L54Q probably damaging Het
Ankrd24 A C 10: 81,643,315 probably benign Het
Atg2b A G 12: 105,652,629 S813P probably benign Het
Atp13a3 T A 16: 30,341,240 I716F probably damaging Het
Atp6v1c1 T A 15: 38,689,176 W294R probably damaging Het
Atrnl1 G T 19: 58,042,361 A1312S probably benign Het
B230359F08Rik T A 14: 53,795,951 C106S probably damaging Het
Bcl2 A T 1: 106,712,608 H91Q possibly damaging Het
Cacna1c G A 6: 118,630,302 Q1214* probably null Het
Cacna1g C A 11: 94,433,847 G1183W probably damaging Het
Capsl A T 15: 9,461,742 M75L probably benign Het
Ccdc122 T G 14: 77,111,607 probably benign Het
Ccdc57 T G 11: 120,881,857 R645S possibly damaging Het
Cdh8 T A 8: 99,024,926 R720* probably null Het
Cenpx T G 11: 120,711,784 probably benign Het
Crtac1 A T 19: 42,323,801 W158R possibly damaging Het
Dhrs11 T A 11: 84,828,800 Q33L probably benign Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Dpp9 G T 17: 56,191,016 Q647K probably damaging Het
Egf C T 3: 129,716,678 G64D probably damaging Het
Eif2b4 C T 5: 31,189,520 probably benign Het
Epas1 A G 17: 86,805,839 N151S probably benign Het
Fastkd1 A T 2: 69,691,307 I707K probably benign Het
Fbln2 A G 6: 91,269,186 T1005A probably benign Het
Fgfrl1 T A 5: 108,703,497 Y93* probably null Het
Fktn A G 4: 53,744,637 T306A probably benign Het
Gabbr2 T G 4: 46,991,139 Y96S possibly damaging Het
Gm16332 A T 1: 139,891,658 noncoding transcript Het
Gm5145 G T 17: 20,570,548 V63F probably damaging Het
Gm9970 G T 5: 31,241,085 probably benign Het
Gpr158 A G 2: 21,783,182 T545A probably damaging Het
Heatr1 G A 13: 12,412,048 E685K probably benign Het
Herc6 A T 6: 57,604,166 I284F probably damaging Het
Hook1 C G 4: 96,002,557 A301G possibly damaging Het
Hpcal4 T A 4: 123,190,698 M140K possibly damaging Het
Il11ra1 T C 4: 41,766,096 probably benign Het
Ildr1 A T 16: 36,722,555 H439L possibly damaging Het
Itga11 A G 9: 62,776,727 probably null Het
Jag2 A T 12: 112,916,632 D337E probably benign Het
Krt82 C T 15: 101,550,488 R39Q probably benign Het
L3mbtl4 T A 17: 68,359,480 M1K probably null Het
Lrrc32 T G 7: 98,499,017 F335V probably damaging Het
Lurap1l T A 4: 80,911,413 V20E probably damaging Het
Lyar T A 5: 38,227,886 V90D possibly damaging Het
Man2c1 C T 9: 57,141,185 R778* probably null Het
Mapk6 A G 9: 75,388,432 F595L probably benign Het
Mccc1 A G 3: 35,985,001 I281T probably damaging Het
Mep1b T C 18: 21,093,254 V391A probably damaging Het
Mier1 G A 4: 103,130,998 D40N probably damaging Het
Mkx T C 18: 7,002,432 H38R probably benign Het
Mroh4 A G 15: 74,626,179 L184P probably damaging Het
Muc2 C A 7: 141,754,140 N834K probably benign Het
Mycl A G 4: 123,000,256 D283G probably damaging Het
Myh6 T C 14: 54,953,293 N975S probably damaging Het
Myl12a A G 17: 70,996,302 probably benign Het
Mysm1 T C 4: 94,965,673 T230A probably benign Het
Naca A G 10: 128,047,803 K2099R probably null Het
Nbeal1 T G 1: 60,222,193 probably null Het
Nedd1 A G 10: 92,698,910 V246A probably benign Het
Nid2 A G 14: 19,789,761 D806G probably benign Het
Ninl G A 2: 150,959,881 R156* probably null Het
Obscn T A 11: 59,069,859 I3418F probably damaging Het
Olfr970 T A 9: 39,819,897 V86E probably benign Het
Pappa2 T C 1: 158,857,379 N730S probably damaging Het
Pcm1 G A 8: 41,293,678 D1305N probably damaging Het
Pcsk4 A T 10: 80,323,104 I485N probably damaging Het
Phldb2 T C 16: 45,825,874 R111G probably damaging Het
Prdm10 T C 9: 31,341,273 F385S probably damaging Het
Prkcsh C T 9: 22,011,738 P351L probably damaging Het
Prrc2a G A 17: 35,150,042 P2006L probably damaging Het
Rad51c T C 11: 87,395,378 D251G probably damaging Het
Radil A G 5: 142,485,163 F1088L probably benign Het
Rere C A 4: 150,615,167 probably benign Het
Rnf167 T A 11: 70,650,135 C196S probably benign Het
Robo2 T A 16: 74,352,745 Y65F probably damaging Het
Scarf2 G A 16: 17,803,507 C319Y probably damaging Het
Sec24c A G 14: 20,693,712 D995G probably damaging Het
Selenbp1 T C 3: 94,943,900 L369S probably benign Het
Sgpl1 A T 10: 61,123,344 I53K possibly damaging Het
Sh3bp5 C A 14: 31,377,495 R265L probably benign Het
Slc1a6 A T 10: 78,800,118 Y339F probably damaging Het
Smchd1 G T 17: 71,360,053 Y1781* probably null Het
Smg1 T C 7: 118,180,474 S1233G probably benign Het
Snap91 A T 9: 86,783,454 probably benign Het
Snx29 T A 16: 11,420,736 L112Q probably damaging Het
Sptbn5 T C 2: 120,059,141 probably benign Het
Srl A T 16: 4,492,358 H502Q possibly damaging Het
St5 C T 7: 109,557,033 G170D probably damaging Het
St8sia3 A G 18: 64,271,749 M366V probably benign Het
Stk19 A T 17: 34,822,509 probably benign Het
Syngap1 G A 17: 26,961,449 A611T probably benign Het
Tas2r113 A G 6: 132,893,707 T233A possibly damaging Het
Tbcc G A 17: 46,891,219 W177* probably null Het
Tcstv3 T A 13: 120,318,082 probably null Het
Trmt61a G A 12: 111,678,713 V28M possibly damaging Het
Ubap2l G A 3: 90,020,903 T553M probably damaging Het
Urb1 T C 16: 90,757,827 N1839S probably benign Het
Ush2a T C 1: 188,743,545 L2893P probably damaging Het
Usp24 G A 4: 106,360,162 V421M possibly damaging Het
Vmn1r43 T C 6: 89,869,910 E198G probably benign Het
Vps13d A C 4: 145,178,056 S130A probably damaging Het
Zfp426 T A 9: 20,471,014 I211F probably benign Het
Znfx1 T C 2: 167,038,569 probably null Het
Other mutations in Clic3
AlleleSourceChrCoordTypePredicted EffectPPH Score
knife UTSW 2 25457767 missense possibly damaging 0.94
R0491:Clic3 UTSW 2 25457785 unclassified probably benign
R0533:Clic3 UTSW 2 25458138 missense probably damaging 1.00
R4940:Clic3 UTSW 2 25457917 missense probably benign 0.00
R5579:Clic3 UTSW 2 25458307 missense probably damaging 0.99
R5713:Clic3 UTSW 2 25458167 missense probably damaging 1.00
R6669:Clic3 UTSW 2 25457767 missense possibly damaging 0.94
R7169:Clic3 UTSW 2 25458719 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCAAAGATGGGACCTCCTTG -3'
(R):5'- GACTCACGAAGATGTGGCTC -3'

Sequencing Primer
(F):5'- TCCTTGGGGGACACCTG -3'
(R):5'- CACGAAGATGTGGCTCCTGTG -3'
Posted On2016-02-04