Incidental Mutation 'IGL03182:Clcnka'
ID412289
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 #IGL03182
Quality Score
Status
Chromosome4
Chromosomal Location141384610-141398724 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 141394487 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 236 (Y236C)
Ref Sequence ENSEMBL: ENSMUSP00000101416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042617] [ENSMUST00000105790] [ENSMUST00000133676]
Predicted Effect probably damaging
Transcript: ENSMUST00000042617
AA Change: Y236C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: Y236C

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: Y236C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: Y236C

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: ENSMUST00000148320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149247
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Aldh2 A G 5: 121,580,724 probably benign Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
AU019823 T C 9: 50,612,398 N50S possibly damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Fermt2 A T 14: 45,461,768 M623K possibly damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Olfr948 A T 9: 39,318,981 M211K probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pim1 T A 17: 29,491,766 D114E possibly damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tbc1d13 G A 2: 30,147,367 A254T probably damaging Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P 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
IGL02983:Clcnka APN 4 141390131 missense probably damaging 0.99
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