Incidental Mutation 'IGL02750:Clcnkb'
ID306271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcnkb
Ensembl Gene ENSMUSG00000006216
Gene Namechloride channel, voltage-sensitive Kb
SynonymsClcnk1l, Clck2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02750
Quality Score
Status
Chromosome4
Chromosomal Location141404353-141416014 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to C at 141405362 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006378] [ENSMUST00000105788]
Predicted Effect probably null
Transcript: ENSMUST00000006378
SMART Domains Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216

DomainStartEndE-ValueType
Pfam:Voltage_CLC 102 514 1.5e-77 PFAM
CBS 554 604 1.77e-2 SMART
Blast:CBS 629 678 1e-20 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000105788
SMART Domains Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216

DomainStartEndE-ValueType
Pfam:Voltage_CLC 102 514 3.6e-72 PFAM
CBS 554 604 1.77e-2 SMART
Pfam:CBS 623 676 3.3e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135486
SMART Domains Protein: ENSMUSP00000119059
Gene: ENSMUSG00000006216

DomainStartEndE-ValueType
PDB:2PFI|B 2 73 2e-28 PDB
Blast:CBS 28 64 8e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149247
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 CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Dkkl1 C T 7: 45,210,112 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging Het
Lrrc28 T C 7: 67,531,683 D268G probably damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Pou4f2 A T 8: 78,435,063 F304I probably damaging Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Sema3b T C 9: 107,603,164 T168A probably benign Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Uri1 G A 7: 37,967,481 R176* probably null Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null Het
Other mutations in Clcnkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02430:Clcnkb APN 4 141409390 missense possibly damaging 0.85
IGL02894:Clcnkb APN 4 141407819 missense probably benign 0.00
R0193:Clcnkb UTSW 4 141412316 missense possibly damaging 0.60
R1427:Clcnkb UTSW 4 141405309 missense probably damaging 1.00
R1555:Clcnkb UTSW 4 141411739 splice site probably null
R1572:Clcnkb UTSW 4 141407095 missense possibly damaging 0.58
R1756:Clcnkb UTSW 4 141415214 missense possibly damaging 0.77
R1776:Clcnkb UTSW 4 141415189 splice site probably benign
R1879:Clcnkb UTSW 4 141407819 missense possibly damaging 0.95
R2149:Clcnkb UTSW 4 141408017 missense probably damaging 1.00
R2180:Clcnkb UTSW 4 141409508 unclassified probably null
R2307:Clcnkb UTSW 4 141412329 missense probably damaging 1.00
R4393:Clcnkb UTSW 4 141412236 missense probably benign 0.00
R4758:Clcnkb UTSW 4 141407849 missense probably benign 0.00
R5416:Clcnkb UTSW 4 141413900 missense probably benign 0.33
R5906:Clcnkb UTSW 4 141412299 missense probably benign
R6185:Clcnkb UTSW 4 141414514 missense probably benign 0.00
R6299:Clcnkb UTSW 4 141410723 missense probably damaging 1.00
R6803:Clcnkb UTSW 4 141405328 missense probably benign
R6877:Clcnkb UTSW 4 141404832 missense probably benign 0.00
R7205:Clcnkb UTSW 4 141408635 missense probably damaging 1.00
Posted On2015-04-16