Incidental Mutation 'IGL01345:Kcnk1'
ID 75013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Name potassium channel, subfamily K, member 1
Synonyms TWIK-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01345
Quality Score
Status
Chromosome 8
Chromosomal Location 126721909-126757424 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126752146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 251 (C251S)
Ref Sequence ENSEMBL: ENSMUSP00000046103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046765] [ENSMUST00000212831]
AlphaFold O08581
Predicted Effect possibly damaging
Transcript: ENSMUST00000046765
AA Change: C251S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046103
Gene: ENSMUSG00000033998
AA Change: C251S

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 noncoding transcript
Transcript: ENSMUST00000212178
Predicted Effect possibly damaging
Transcript: ENSMUST00000212831
AA Change: C251S

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,020 (GRCm39) probably benign Het
Atr G A 9: 95,823,002 (GRCm39) C2323Y probably damaging Het
Ccdc107 T A 4: 43,493,453 (GRCm39) L8* probably null Het
Erc1 T A 6: 119,738,224 (GRCm39) K240* probably null Het
Gcat T C 15: 78,918,265 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gm8267 A G 14: 44,962,412 (GRCm39) S3P probably damaging Het
Gpr26 T C 7: 131,569,161 (GRCm39) F169L possibly damaging Het
Itgal T A 7: 126,900,128 (GRCm39) F129I possibly damaging Het
Nfkb1 T C 3: 135,300,742 (GRCm39) D608G probably damaging Het
Nlrp2 T C 7: 5,320,491 (GRCm39) E882G probably benign Het
Odad2 T C 18: 7,266,947 (GRCm39) K385E probably benign Het
Pik3r5 G A 11: 68,387,020 (GRCm39) D854N possibly damaging Het
Rnf220 G A 4: 117,130,467 (GRCm39) R253* probably null Het
Slc22a15 A C 3: 101,787,492 (GRCm39) S259R probably benign Het
Tln1 G A 4: 43,536,281 (GRCm39) L2004F probably damaging Het
Tlnrd1 A G 7: 83,532,054 (GRCm39) S126P probably damaging Het
Ulk4 T C 9: 121,037,228 (GRCm39) T587A possibly damaging Het
Vasn A G 16: 4,466,232 (GRCm39) I60V probably benign Het
Vps33a G T 5: 123,711,006 (GRCm39) N13K probably benign Het
Zmiz2 A G 11: 6,355,015 (GRCm39) D862G possibly damaging Het
Zswim3 T A 2: 164,662,057 (GRCm39) L179H probably damaging Het
Other mutations in Kcnk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6934:Kcnk1 UTSW 8 126,752,129 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-10-07