Incidental Mutation 'R0694:Kcna1'
ID 63426
Institutional Source Beutler Lab
Gene Symbol Kcna1
Ensembl Gene ENSMUSG00000047976
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 1
Synonyms Shak, mouse brain potassium channel protein-1, mceph, Mk-1, MBK1, Kv1.1
MMRRC Submission 038879-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.365) question?
Stock # R0694 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 126617360-126623347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126619208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 371 (T371A)
Ref Sequence ENSEMBL: ENSMUSP00000144947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055168] [ENSMUST00000203094]
AlphaFold P16388
Predicted Effect probably damaging
Transcript: ENSMUST00000055168
AA Change: T371A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: T371A

DomainStartEndE-ValueType
BTB 37 137 2.44e-10 SMART
Pfam:Ion_trans 166 419 1.4e-52 PFAM
Pfam:Ion_trans_2 327 412 1.3e-15 PFAM
low complexity region 437 452 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000203094
AA Change: T371A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: T371A

DomainStartEndE-ValueType
BTB 37 137 2.44e-10 SMART
Pfam:Ion_trans 166 419 1.4e-52 PFAM
Pfam:Ion_trans_2 327 412 1.3e-15 PFAM
low complexity region 437 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205171
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008]
PHENOTYPE: Various mutations at this allele have diverse affects including behavioral abnormalities, megencephaly, and in one case, embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b C T 13: 14,362,419 (GRCm39) T961I probably damaging Het
Asb13 G T 13: 3,699,480 (GRCm39) A227S probably benign Het
Atp6v1g1 C T 4: 63,468,230 (GRCm39) R78W probably benign Het
Bglap2 C T 3: 88,285,723 (GRCm39) D31N possibly damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Fbxo22 T A 9: 55,128,423 (GRCm39) I248N probably damaging Het
Fbxo39 G A 11: 72,209,295 (GRCm39) R385Q probably benign Het
Glyr1 T C 16: 4,844,424 (GRCm39) N284S probably damaging Het
Hus1 C T 11: 8,957,531 (GRCm39) W144* probably null Het
Prkdc A T 16: 15,586,501 (GRCm39) N2510I probably damaging Het
Ptprn2 G T 12: 116,787,975 (GRCm39) A105S possibly damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Sema6d T C 2: 124,505,961 (GRCm39) S633P probably damaging Het
Sulf2 T C 2: 165,927,711 (GRCm39) N362S probably damaging Het
Tlcd5 C T 9: 43,022,921 (GRCm39) W126* probably null Het
Trim50 A T 5: 135,382,399 (GRCm39) I84L probably benign Het
Trpc3 A T 3: 36,725,704 (GRCm39) F91I possibly damaging Het
Zfp804a A G 2: 81,884,148 (GRCm39) Y5C probably damaging Het
Other mutations in Kcna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Kcna1 APN 6 126,619,869 (GRCm39) missense probably damaging 1.00
IGL02361:Kcna1 APN 6 126,619,869 (GRCm39) missense probably damaging 1.00
IGL02900:Kcna1 APN 6 126,620,057 (GRCm39) missense probably damaging 1.00
IGL03046:Kcna1 UTSW 6 126,619,148 (GRCm39) missense possibly damaging 0.84
R1530:Kcna1 UTSW 6 126,619,494 (GRCm39) missense probably benign
R1531:Kcna1 UTSW 6 126,619,030 (GRCm39) missense probably benign 0.30
R1676:Kcna1 UTSW 6 126,619,645 (GRCm39) missense probably damaging 1.00
R1750:Kcna1 UTSW 6 126,619,771 (GRCm39) missense probably benign 0.06
R3815:Kcna1 UTSW 6 126,620,009 (GRCm39) missense probably damaging 1.00
R4012:Kcna1 UTSW 6 126,619,873 (GRCm39) missense probably benign
R4290:Kcna1 UTSW 6 126,618,838 (GRCm39) missense probably damaging 1.00
R4492:Kcna1 UTSW 6 126,619,238 (GRCm39) missense possibly damaging 0.95
R4820:Kcna1 UTSW 6 126,619,099 (GRCm39) missense probably damaging 1.00
R5114:Kcna1 UTSW 6 126,619,330 (GRCm39) missense probably damaging 0.99
R5433:Kcna1 UTSW 6 126,620,075 (GRCm39) missense probably damaging 1.00
R6171:Kcna1 UTSW 6 126,619,286 (GRCm39) missense probably damaging 1.00
R7561:Kcna1 UTSW 6 126,619,108 (GRCm39) missense probably damaging 1.00
R7834:Kcna1 UTSW 6 126,619,703 (GRCm39) missense probably benign
R8040:Kcna1 UTSW 6 126,619,703 (GRCm39) missense probably benign
R8167:Kcna1 UTSW 6 126,620,443 (GRCm39) start gained probably benign
R8311:Kcna1 UTSW 6 126,619,255 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AACTAACATGGAGCAACTGAGCCTG -3'
(R):5'- GCTGAAGGACGACAAGGACTTCAC -3'

Sequencing Primer
(F):5'- AGCAACTGAGCCTGCTCTTC -3'
(R):5'- GAACTTCATCGACATTGTGGC -3'
Posted On 2013-07-30