Incidental Mutation 'R6934:Kcnk1'
ID 540206
Institutional Source Beutler Lab
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Name potassium channel, subfamily K, member 1
Synonyms TWIK-1
MMRRC Submission 045049-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6934 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 126721909-126757424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126752129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 245 (Y245C)
Ref Sequence ENSEMBL: ENSMUSP00000148778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046765] [ENSMUST00000212831]
AlphaFold O08581
Predicted Effect probably damaging
Transcript: ENSMUST00000046765
AA Change: Y245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: Y245C

DomainStartEndE-ValueType
low complexity region 23 41 N/A INTRINSIC
low complexity region 49 68 N/A INTRINSIC
Pfam:Ion_trans_2 82 158 6.6e-19 PFAM
Pfam:Ion_trans_2 190 271 1.8e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212831
AA Change: Y245C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation reduced urinary flow rates and on a low phosphate diet display an attenuated ability to increase renal phosphate reabsorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik T A 8: 122,266,712 (GRCm39) Y58F probably benign Het
Asap2 T C 12: 21,218,251 (GRCm39) V58A probably damaging Het
Bccip A G 7: 133,322,520 (GRCm39) M289V probably benign Het
Bhmt2 A T 13: 93,798,819 (GRCm39) I334N probably benign Het
Copa T A 1: 171,938,253 (GRCm39) I513N possibly damaging Het
Cspg4b T C 13: 113,505,800 (GRCm39) S2310P probably benign Het
Ctif G A 18: 75,568,431 (GRCm39) T569M probably benign Het
Dennd1a A T 2: 37,691,225 (GRCm39) M231K possibly damaging Het
Dnah3 A G 7: 119,653,824 (GRCm39) probably null Het
Fat3 T C 9: 16,288,252 (GRCm39) I424V probably damaging Het
Foxred2 G T 15: 77,836,530 (GRCm39) C328* probably null Het
Gemin5 A T 11: 58,038,738 (GRCm39) H590Q probably damaging Het
Gm5475 T C 15: 100,325,007 (GRCm39) probably benign Het
Gmip A G 8: 70,273,576 (GRCm39) T956A probably benign Het
Hmbox1 A T 14: 65,134,281 (GRCm39) D106E probably benign Het
Irs2 A T 8: 11,054,697 (GRCm39) I1245N probably damaging Het
Krtap4-9 A T 11: 99,676,708 (GRCm39) R210* probably null Het
Lama1 A G 17: 68,081,538 (GRCm39) D1325G probably benign Het
Lyz3 C T 10: 117,074,413 (GRCm39) D25N probably benign Het
Mep1a A T 17: 43,793,121 (GRCm39) V361E probably damaging Het
Mrgprx2 A G 7: 48,131,813 (GRCm39) I92T possibly damaging Het
Nup214 A T 2: 31,872,683 (GRCm39) R242* probably null Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or13a24 T G 7: 140,154,564 (GRCm39) L166R probably damaging Het
Or5p60 A G 7: 107,724,026 (GRCm39) V148A probably benign Het
Or8b1c T G 9: 38,384,472 (GRCm39) I143S probably benign Het
Orc2 T C 1: 58,539,523 (GRCm39) K39E probably benign Het
Ppl C T 16: 4,912,373 (GRCm39) G736D probably benign Het
Ppp2r1a A G 17: 21,181,895 (GRCm39) E471G possibly damaging Het
Prrc2c G A 1: 162,548,074 (GRCm39) P161S probably benign Het
Rnf213 A G 11: 119,310,893 (GRCm39) I804V probably benign Het
Saal1 A G 7: 46,352,088 (GRCm39) C144R probably benign Het
Slc29a4 G A 5: 142,698,713 (GRCm39) V125I probably benign Het
Smarcc2 A G 10: 128,305,541 (GRCm39) T322A probably benign Het
Srgap2 A T 1: 131,244,969 (GRCm39) M591K possibly damaging Het
Stard9 A G 2: 120,528,176 (GRCm39) I1478V probably benign Het
Tet2 A G 3: 133,188,998 (GRCm39) probably null Het
Tmem150c C T 5: 100,243,465 (GRCm39) probably null Het
Tmem39b T A 4: 129,572,366 (GRCm39) H412L possibly damaging Het
Tox A C 4: 6,697,635 (GRCm39) H389Q probably damaging Het
Trank1 T C 9: 111,202,158 (GRCm39) I1595T probably damaging Het
Vmn2r-ps117 T G 17: 19,044,967 (GRCm39) Y461* probably null Het
Vps13a T C 19: 16,653,558 (GRCm39) H1941R probably damaging Het
Other mutations in Kcnk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Kcnk1 APN 8 126,752,146 (GRCm39) missense possibly damaging 0.94
IGL01936:Kcnk1 APN 8 126,751,826 (GRCm39) missense probably damaging 1.00
IGL02447:Kcnk1 APN 8 126,751,819 (GRCm39) missense probably damaging 1.00
IGL02674:Kcnk1 APN 8 126,751,753 (GRCm39) missense probably damaging 1.00
PIT4515001:Kcnk1 UTSW 8 126,752,081 (GRCm39) missense probably damaging 1.00
R0735:Kcnk1 UTSW 8 126,752,028 (GRCm39) missense probably damaging 1.00
R1350:Kcnk1 UTSW 8 126,751,967 (GRCm39) missense probably benign 0.08
R1581:Kcnk1 UTSW 8 126,722,278 (GRCm39) missense possibly damaging 0.50
R1789:Kcnk1 UTSW 8 126,752,123 (GRCm39) missense possibly damaging 0.83
R2035:Kcnk1 UTSW 8 126,752,108 (GRCm39) missense possibly damaging 0.56
R2125:Kcnk1 UTSW 8 126,722,395 (GRCm39) missense probably damaging 0.99
R2906:Kcnk1 UTSW 8 126,722,538 (GRCm39) missense probably benign 0.00
R2907:Kcnk1 UTSW 8 126,722,538 (GRCm39) missense probably benign 0.00
R4710:Kcnk1 UTSW 8 126,756,267 (GRCm39) missense probably damaging 1.00
R5698:Kcnk1 UTSW 8 126,752,144 (GRCm39) missense probably damaging 1.00
R6591:Kcnk1 UTSW 8 126,751,970 (GRCm39) missense probably benign 0.01
R6647:Kcnk1 UTSW 8 126,722,199 (GRCm39) start codon destroyed probably null 0.98
R6691:Kcnk1 UTSW 8 126,751,970 (GRCm39) missense probably benign 0.01
R7059:Kcnk1 UTSW 8 126,756,466 (GRCm39) nonsense probably null
R7082:Kcnk1 UTSW 8 126,722,287 (GRCm39) missense probably damaging 1.00
R7441:Kcnk1 UTSW 8 126,722,307 (GRCm39) missense probably damaging 1.00
R7596:Kcnk1 UTSW 8 126,722,350 (GRCm39) missense probably damaging 0.97
R8393:Kcnk1 UTSW 8 126,751,964 (GRCm39) missense probably benign 0.05
R9271:Kcnk1 UTSW 8 126,752,152 (GRCm39) splice site probably null
R9286:Kcnk1 UTSW 8 126,752,148 (GRCm39) critical splice donor site probably null
R9481:Kcnk1 UTSW 8 126,756,281 (GRCm39) missense probably damaging 1.00
R9553:Kcnk1 UTSW 8 126,756,322 (GRCm39) nonsense probably null
R9779:Kcnk1 UTSW 8 126,751,807 (GRCm39) missense probably damaging 1.00
Z1177:Kcnk1 UTSW 8 126,756,392 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGATTTGTCACCGTTTCC -3'
(R):5'- ACACAGGAGTCACAGAGCATTG -3'

Sequencing Primer
(F):5'- GGATTTGTCACCGTTTCCTGCTTC -3'
(R):5'- GTCACAGAGCATTGGAAACATAAC -3'
Posted On 2018-11-06