Incidental Mutation 'R4492:Kcna1'
ID 330775
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 041581-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.365) question?
Stock # R4492 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 126617360-126623347 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126619238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 361 (D361N)
Ref Sequence ENSEMBL: ENSMUSP00000144947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055168] [ENSMUST00000203094]
AlphaFold P16388
Predicted Effect possibly damaging
Transcript: ENSMUST00000055168
AA Change: D361N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: D361N

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 possibly damaging
Transcript: ENSMUST00000203094
AA Change: D361N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: D361N

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,561,676 (GRCm39) I157L probably benign Het
Amph T C 13: 19,333,928 (GRCm39) V663A possibly damaging Het
Anapc16 A G 10: 59,826,724 (GRCm39) S50P possibly damaging Het
Ank3 T A 10: 69,644,755 (GRCm39) V60D probably damaging Het
Btbd9 A G 17: 30,746,545 (GRCm39) Y94H probably damaging Het
Chil3 A G 3: 106,063,017 (GRCm39) I191T probably damaging Het
Clpb T C 7: 101,436,929 (GRCm39) L668P probably damaging Het
Cyp2d22 G A 15: 82,258,571 (GRCm39) H97Y probably benign Het
Dhrs7 A T 12: 72,699,899 (GRCm39) N244K probably damaging Het
Dusp4 C T 8: 35,274,890 (GRCm39) T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 106,611,700 (GRCm39) probably null Het
Etl4 G A 2: 20,811,676 (GRCm39) S1621N possibly damaging Het
Fam174a T C 1: 95,241,701 (GRCm39) S54P probably benign Het
Fdxacb1 T C 9: 50,681,547 (GRCm39) F7S probably damaging Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gpr156 T A 16: 37,812,468 (GRCm39) L268H probably damaging Het
Gpr17 A T 18: 32,080,304 (GRCm39) I253N possibly damaging Het
H2-T23 A T 17: 36,343,058 (GRCm39) N106K probably damaging Het
Hspa4 T C 11: 53,171,296 (GRCm39) R303G probably damaging Het
Irgm1 G A 11: 48,756,955 (GRCm39) silent Het
Jph1 A C 1: 17,067,770 (GRCm39) I114S probably damaging Het
Kcna4 G A 2: 107,126,436 (GRCm39) R390Q probably damaging Het
Lum C A 10: 97,404,300 (GRCm39) P65H probably damaging Het
Mc4r A G 18: 66,992,711 (GRCm39) L134P probably benign Het
Mroh8 A T 2: 157,099,960 (GRCm39) I248N probably damaging Het
Nos2 A G 11: 78,840,921 (GRCm39) T677A probably benign Het
Nup37 T A 10: 88,010,791 (GRCm39) F257I possibly damaging Het
Or13c3 T C 4: 52,855,764 (GRCm39) I250V probably benign Het
Or6k6 C T 1: 173,944,770 (GRCm39) V271I probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,567 (GRCm39) M501R possibly damaging Het
Pitx1 T C 13: 55,976,465 (GRCm39) K65E probably benign Het
Pla1a C T 16: 38,229,972 (GRCm39) A247T probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Prss8 A G 7: 127,528,979 (GRCm39) S26P probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rock2 T A 12: 17,027,684 (GRCm39) C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Serpina6 A G 12: 103,613,146 (GRCm39) W385R probably damaging Het
Slc12a5 T C 2: 164,821,263 (GRCm39) M249T probably benign Het
Srsf9 T A 5: 115,470,651 (GRCm39) I117N probably damaging Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc21a T C 9: 119,770,346 (GRCm39) V139A probably benign Het
Zfp236 A T 18: 82,648,125 (GRCm39) V1012D probably damaging Het
Zfp612 C A 8: 110,815,929 (GRCm39) Q379K probably damaging Het
Zfp930 C T 8: 69,680,898 (GRCm39) Q198* probably null 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
R0694:Kcna1 UTSW 6 126,619,208 (GRCm39) missense probably damaging 0.99
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
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'- CTAACATGGAGCAACTGAGCC -3'
(R):5'- AGGGTGTTCAGAATCTTCAAACTC -3'

Sequencing Primer
(F):5'- GAGCAACTGAGCCTGCTCTTC -3'
(R):5'- GTGTTCAGAATCTTCAAACTCTCCCG -3'
Posted On 2015-07-21