Incidental Mutation 'IGL02983:Clcnka'
ID406645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcnka
Ensembl Gene ENSMUSG00000033770
Gene Namechloride channel, voltage-sensitive Ka
SynonymsCLC-K1, Clcnk1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02983
Quality Score
Status
Chromosome4
Chromosomal Location141384610-141398724 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141390131 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 452 (I452F)
Ref Sequence ENSEMBL: ENSMUSP00000101416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042617] [ENSMUST00000105790] [ENSMUST00000133676]
Predicted Effect probably damaging
Transcript: ENSMUST00000042617
AA Change: I452F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: I452F

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:Voltage_CLC 102 514 2.1e-69 PFAM
CBS 554 604 6.54e-6 SMART
Pfam:CBS 623 679 5.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105790
AA Change: I452F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: I452F

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:Voltage_CLC 101 514 3.1e-75 PFAM
CBS 554 604 6.54e-6 SMART
Blast:CBS 629 678 1e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000133676
SMART Domains Protein: ENSMUSP00000122396
Gene: ENSMUSG00000033770

DomainStartEndE-ValueType
low complexity region 23 35 N/A INTRINSIC
Pfam:Voltage_CLC 101 191 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150334
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKB (geneID:1188). Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Clcnka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Clcnka APN 4 141391401 nonsense probably null
IGL01420:Clcnka APN 4 141389332 missense probably benign 0.00
IGL01726:Clcnka APN 4 141392740 critical splice donor site probably null
IGL02676:Clcnka APN 4 141392783 missense probably damaging 0.97
IGL03182:Clcnka APN 4 141394487 missense probably damaging 1.00
free_trade UTSW 4 141395158 nonsense probably null
R0646:Clcnka UTSW 4 141396606 missense probably benign
R1292:Clcnka UTSW 4 141395592 splice site probably benign
R1479:Clcnka UTSW 4 141389447 missense possibly damaging 0.82
R1864:Clcnka UTSW 4 141392802 missense probably damaging 0.99
R3806:Clcnka UTSW 4 141387290 missense probably null 0.05
R5035:Clcnka UTSW 4 141395158 nonsense probably null
R5617:Clcnka UTSW 4 141389317 missense probably null 0.01
R5869:Clcnka UTSW 4 141394965 missense probably benign 0.08
R6048:Clcnka UTSW 4 141394487 missense probably damaging 1.00
R7042:Clcnka UTSW 4 141391380 missense probably damaging 0.97
R7068:Clcnka UTSW 4 141387110 missense probably damaging 0.99
R8016:Clcnka UTSW 4 141390152 missense possibly damaging 0.85
R8292:Clcnka UTSW 4 141397961 nonsense probably null
Posted On2016-08-02