Incidental Mutation 'IGL03182:Clcnka'
ID 412289
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcnka
Ensembl Gene ENSMUSG00000033770
Gene Name chloride channel, voltage-sensitive Ka
Synonyms CLC-K1, Clcnk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03182
Quality Score
Status
Chromosome 4
Chromosomal Location 141111922-141126017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141121798 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9WUB7
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: 34,780,435 (GRCm39) K469N probably damaging Het
Aldh2 A G 5: 121,718,787 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,619,580 (GRCm39) probably benign Het
Ankhd1 C T 18: 36,711,827 (GRCm39) T209I probably benign Het
Aox3 G A 1: 58,205,046 (GRCm39) V754I probably benign Het
Arfgef3 C T 10: 18,476,292 (GRCm39) R1509H probably damaging Het
Ccdc157 A G 11: 4,101,832 (GRCm39) S30P probably damaging Het
Cept1 T A 3: 106,411,866 (GRCm39) E369D probably damaging Het
Ddx42 A T 11: 106,138,353 (GRCm39) L717F probably benign Het
Dnah11 A T 12: 117,994,026 (GRCm39) I2340N probably damaging Het
Dsel T C 1: 111,787,868 (GRCm39) E889G probably damaging Het
Fasn T C 11: 120,703,552 (GRCm39) Y1560C probably damaging Het
Fermt2 A T 14: 45,699,225 (GRCm39) M623K possibly damaging Het
Gm21970 T A 16: 91,190,726 (GRCm39) S110T possibly damaging Het
Gm826 T A 2: 160,169,035 (GRCm39) R91S unknown Het
Lrrn3 A G 12: 41,504,020 (GRCm39) L99S probably damaging Het
Megf8 T A 7: 25,046,773 (GRCm39) M1552K possibly damaging Het
Mgll G T 6: 88,800,173 (GRCm39) V191F probably damaging Het
Nkapd1 T C 9: 50,523,698 (GRCm39) N50S possibly damaging Het
Nol8 C A 13: 49,817,557 (GRCm39) H778N probably damaging Het
Or1e26 T A 11: 73,480,268 (GRCm39) T99S probably benign Het
Or5b116 A C 19: 13,422,807 (GRCm39) T144P possibly damaging Het
Or8g30 A T 9: 39,230,277 (GRCm39) M211K probably benign Het
Or8k40 A T 2: 86,584,366 (GRCm39) S239T probably damaging Het
Pfkfb3 A T 2: 11,506,474 (GRCm39) I13N probably damaging Het
Pim1 T A 17: 29,710,740 (GRCm39) D114E possibly damaging Het
Pkd1 T C 17: 24,792,792 (GRCm39) L1493P probably damaging Het
Plb1 A T 5: 32,502,259 (GRCm39) probably benign Het
Plch1 A T 3: 63,610,015 (GRCm39) Y872* probably null Het
Rictor A G 15: 6,819,079 (GRCm39) D1434G probably benign Het
Rptor G A 11: 119,615,971 (GRCm39) G162R probably damaging Het
Serping1 T C 2: 84,596,162 (GRCm39) D424G probably damaging Het
Slit2 A G 5: 48,377,395 (GRCm39) I475V possibly damaging Het
Snx31 G T 15: 36,525,833 (GRCm39) Q289K probably benign Het
Tbc1d13 G A 2: 30,037,379 (GRCm39) A254T probably damaging Het
Tek T C 4: 94,740,002 (GRCm39) I750T probably damaging Het
Tet2 A T 3: 133,177,159 (GRCm39) L1296* probably null Het
Tmem145 T A 7: 25,014,304 (GRCm39) F459I probably damaging Het
Uba5 A T 9: 103,931,328 (GRCm39) V247D possibly damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Zfp609 A G 9: 65,608,287 (GRCm39) S1198P probably benign Het
Other mutations in Clcnka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Clcnka APN 4 141,118,712 (GRCm39) nonsense probably null
IGL01420:Clcnka APN 4 141,116,643 (GRCm39) missense probably benign 0.00
IGL01726:Clcnka APN 4 141,120,051 (GRCm39) critical splice donor site probably null
IGL02676:Clcnka APN 4 141,120,094 (GRCm39) missense probably damaging 0.97
IGL02983:Clcnka APN 4 141,117,442 (GRCm39) missense probably damaging 0.99
free_trade UTSW 4 141,122,469 (GRCm39) nonsense probably null
R0646:Clcnka UTSW 4 141,123,917 (GRCm39) missense probably benign
R1292:Clcnka UTSW 4 141,122,903 (GRCm39) splice site probably benign
R1479:Clcnka UTSW 4 141,116,758 (GRCm39) missense possibly damaging 0.82
R1864:Clcnka UTSW 4 141,120,113 (GRCm39) missense probably damaging 0.99
R3806:Clcnka UTSW 4 141,114,601 (GRCm39) missense probably null 0.05
R5035:Clcnka UTSW 4 141,122,469 (GRCm39) nonsense probably null
R5617:Clcnka UTSW 4 141,116,628 (GRCm39) missense probably null 0.01
R5869:Clcnka UTSW 4 141,122,276 (GRCm39) missense probably benign 0.08
R6048:Clcnka UTSW 4 141,121,798 (GRCm39) missense probably damaging 1.00
R7042:Clcnka UTSW 4 141,118,691 (GRCm39) missense probably damaging 0.97
R7068:Clcnka UTSW 4 141,114,421 (GRCm39) missense probably damaging 0.99
R8016:Clcnka UTSW 4 141,117,463 (GRCm39) missense possibly damaging 0.85
R8292:Clcnka UTSW 4 141,125,272 (GRCm39) nonsense probably null
Posted On 2016-08-02