Incidental Mutation 'IGL01345:Kcnk1'
ID75013
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk1
Ensembl Gene ENSMUSG00000033998
Gene Namepotassium channel, subfamily K, member 1
SynonymsTWIK-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01345
Quality Score
Status
Chromosome8
Chromosomal Location125995170-126030685 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 126025407 bp
ZygosityHeterozygous
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]
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: 156,857,100 probably benign Het
Armc4 T C 18: 7,266,947 K385E probably benign Het
Atr G A 9: 95,940,949 C2323Y probably damaging Het
Ccdc107 T A 4: 43,493,453 L8* probably null Het
Erc1 T A 6: 119,761,263 K240* probably null Het
Gcat T C 15: 79,034,065 probably benign Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gm8267 A G 14: 44,724,955 S3P probably damaging Het
Gpr26 T C 7: 131,967,432 F169L possibly damaging Het
Itgal T A 7: 127,300,956 F129I possibly damaging Het
Nfkb1 T C 3: 135,594,981 D608G probably damaging Het
Nlrp2 T C 7: 5,317,492 E882G probably benign Het
Pik3r5 G A 11: 68,496,194 D854N possibly damaging Het
Rnf220 G A 4: 117,273,270 R253* probably null Het
Slc22a15 A C 3: 101,880,176 S259R probably benign Het
Tln1 G A 4: 43,536,281 L2004F probably damaging Het
Tlnrd1 A G 7: 83,882,846 S126P probably damaging Het
Ulk4 T C 9: 121,208,162 T587A possibly damaging Het
Vasn A G 16: 4,648,368 I60V probably benign Het
Vps33a G T 5: 123,572,943 N13K probably benign Het
Zmiz2 A G 11: 6,405,015 D862G possibly damaging Het
Zswim3 T A 2: 164,820,137 L179H probably damaging Het
Other mutations in Kcnk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Kcnk1 APN 8 126025087 missense probably damaging 1.00
IGL02447:Kcnk1 APN 8 126025080 missense probably damaging 1.00
IGL02674:Kcnk1 APN 8 126025014 missense probably damaging 1.00
PIT4515001:Kcnk1 UTSW 8 126025342 missense probably damaging 1.00
R0735:Kcnk1 UTSW 8 126025289 missense probably damaging 1.00
R1350:Kcnk1 UTSW 8 126025228 missense probably benign 0.08
R1581:Kcnk1 UTSW 8 125995539 missense possibly damaging 0.50
R1789:Kcnk1 UTSW 8 126025384 missense possibly damaging 0.83
R2035:Kcnk1 UTSW 8 126025369 missense possibly damaging 0.56
R2125:Kcnk1 UTSW 8 125995656 missense probably damaging 0.99
R2906:Kcnk1 UTSW 8 125995799 missense probably benign 0.00
R2907:Kcnk1 UTSW 8 125995799 missense probably benign 0.00
R4710:Kcnk1 UTSW 8 126029528 missense probably damaging 1.00
R5698:Kcnk1 UTSW 8 126025405 missense probably damaging 1.00
R6591:Kcnk1 UTSW 8 126025231 missense probably benign 0.01
R6647:Kcnk1 UTSW 8 125995460 start codon destroyed probably null 0.98
R6691:Kcnk1 UTSW 8 126025231 missense probably benign 0.01
R6934:Kcnk1 UTSW 8 126025390 missense probably damaging 1.00
R7059:Kcnk1 UTSW 8 126029727 nonsense probably null
R7082:Kcnk1 UTSW 8 125995548 missense probably damaging 1.00
R7441:Kcnk1 UTSW 8 125995568 missense probably damaging 1.00
Posted On2013-10-07