Incidental Mutation 'IGL02676:Clcnka'
ID 303154
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 # IGL02676
Quality Score
Status
Chromosome 4
Chromosomal Location 141111922-141126017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141120094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 275 (V275E)
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: V275E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: V275E

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: V275E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: V275E

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G A 18: 34,448,687 (GRCm39) S1827N probably damaging Het
Atrnl1 T A 19: 57,680,316 (GRCm39) C739S probably damaging Het
Cep350 T C 1: 155,737,977 (GRCm39) E2622G possibly damaging Het
Chd5 C T 4: 152,440,530 (GRCm39) probably benign Het
Chst11 T A 10: 83,027,563 (GRCm39) L330Q probably damaging Het
Clip4 G A 17: 72,135,616 (GRCm39) S456N probably damaging Het
Cmya5 A T 13: 93,229,361 (GRCm39) I1909N probably damaging Het
Cyp26b1 A G 6: 84,553,626 (GRCm39) I176T probably damaging Het
Dst A G 1: 34,346,668 (GRCm39) R7717G probably damaging Het
Eml2 C T 7: 18,918,846 (GRCm39) R99* probably null Het
Fibin T C 2: 110,192,929 (GRCm39) Q71R probably benign Het
Fsip2 T G 2: 82,812,501 (GRCm39) I2940S possibly damaging Het
Gabrb3 G T 7: 57,241,112 (GRCm39) probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Gm6483 C T 8: 19,743,675 (GRCm39) noncoding transcript Het
Hdgfl1 G A 13: 26,953,348 (GRCm39) R242C possibly damaging Het
Hmcn1 T C 1: 150,494,760 (GRCm39) T4110A probably benign Het
Lama2 T G 10: 26,994,489 (GRCm39) M1807L probably benign Het
Larp4 T C 15: 99,888,302 (GRCm39) V113A possibly damaging Het
Mkx T C 18: 7,000,640 (GRCm39) T101A probably benign Het
Nfe2l1 A G 11: 96,718,491 (GRCm39) F15L probably damaging Het
Nherf2 A T 17: 24,860,930 (GRCm39) V204E probably damaging Het
Nif3l1 G A 1: 58,494,895 (GRCm39) probably null Het
Nop14 A G 5: 34,796,565 (GRCm39) V764A probably damaging Het
Nosip C A 7: 44,726,752 (GRCm39) A259E probably damaging Het
Ntn5 T C 7: 45,341,300 (GRCm39) probably benign Het
Or9g20 T C 2: 85,629,934 (GRCm39) I227V possibly damaging Het
Phospho1 G A 11: 95,721,714 (GRCm39) G128D probably damaging Het
Ppp4r3a G A 12: 101,008,770 (GRCm39) T703M probably benign Het
Pramel21 T C 4: 143,342,667 (GRCm39) F258S possibly damaging Het
Pramel58 A G 5: 94,831,730 (GRCm39) T246A possibly damaging Het
Prdm8 G A 5: 98,334,418 (GRCm39) E662K probably damaging Het
Ralgapa1 A G 12: 55,723,202 (GRCm39) S1775P probably damaging Het
Rapgef6 T C 11: 54,540,172 (GRCm39) probably benign Het
Rasef T C 4: 73,677,966 (GRCm39) T87A possibly damaging Het
Scrn3 A G 2: 73,160,215 (GRCm39) Q286R probably benign Het
Sema3d A T 5: 12,620,945 (GRCm39) Q517L probably benign Het
Taf6l T C 19: 8,752,413 (GRCm39) Y425C probably damaging Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tcf3 C T 10: 80,256,925 (GRCm39) G64R probably damaging Het
Tmco4 T C 4: 138,750,380 (GRCm39) probably null Het
Trappc11 A G 8: 47,946,448 (GRCm39) probably benign Het
Vmn1r19 A T 6: 57,382,025 (GRCm39) I193F possibly damaging Het
Vmn2r14 G A 5: 109,367,882 (GRCm39) T370I probably benign Het
Vmn2r65 T A 7: 84,589,381 (GRCm39) H845L possibly damaging Het
Vmn2r98 A T 17: 19,285,521 (GRCm39) T114S probably benign Het
Zfp280d A T 9: 72,242,356 (GRCm39) R661S probably damaging Het
Zranb1 T C 7: 132,568,410 (GRCm39) I356T 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
IGL02983:Clcnka APN 4 141,117,442 (GRCm39) missense probably damaging 0.99
IGL03182:Clcnka APN 4 141,121,798 (GRCm39) missense probably damaging 1.00
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 2015-04-16