Incidental Mutation 'R4492:Kcna1'
Institutional Source Beutler Lab
Gene Symbol Kcna1
Ensembl Gene ENSMUSG00000047976
Gene Namepotassium voltage-gated channel, shaker-related subfamily, member 1
Synonymsmouse brain potassium channel protein-1, MBK1, Shak, Kv1.1, Mk-1, mceph
MMRRC Submission 041581-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.323) question?
Stock #R4492 (G1)
Quality Score225
Status Not validated
Chromosomal Location126640397-126646384 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 126642275 bp
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]
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

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

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: 89,725,814 I157L probably benign Het
Amph T C 13: 19,149,758 V663A possibly damaging Het
Anapc16 A G 10: 59,990,902 S50P possibly damaging Het
Ank3 T A 10: 69,808,925 V60D probably damaging Het
Btbd9 A G 17: 30,527,571 Y94H probably damaging Het
Chil3 A G 3: 106,155,701 I191T probably damaging Het
Clpb T C 7: 101,787,722 L668P probably damaging Het
Cyp2d22 G A 15: 82,374,370 H97Y probably benign Het
Dhrs7 A T 12: 72,653,125 N244K probably damaging Het
Dusp4 C T 8: 34,807,736 T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 105,885,068 probably null Het
Etl4 G A 2: 20,806,865 S1621N possibly damaging Het
Fam174a T C 1: 95,313,976 S54P probably benign Het
Fdxacb1 T C 9: 50,770,247 F7S probably damaging Het
Focad G A 4: 88,359,905 probably null Het
Gpr156 T A 16: 37,992,106 L268H probably damaging Het
Gpr17 A T 18: 31,947,251 I253N possibly damaging Het
H2-T23 A T 17: 36,032,166 N106K probably damaging Het
Hspa4 T C 11: 53,280,469 R303G probably damaging Het
Irgm1 G A 11: 48,866,128 silent Het
Jph1 A C 1: 16,997,546 I114S probably damaging Het
Kcna4 G A 2: 107,296,091 R390Q probably damaging Het
Lum C A 10: 97,568,438 P65H probably damaging Het
Mc4r A G 18: 66,859,640 L134P probably benign Het
Mroh8 A T 2: 157,258,040 I248N probably damaging Het
Nos2 A G 11: 78,950,095 T677A probably benign Het
Nup37 T A 10: 88,174,929 F257I possibly damaging Het
Olfr231 C T 1: 174,117,204 V271I probably benign Het
Olfr273 T C 4: 52,855,764 I250V probably benign Het
Pdzd2 C T 15: 12,385,637 D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,481 M501R possibly damaging Het
Pitx1 T C 13: 55,828,652 K65E probably benign Het
Pla1a C T 16: 38,409,610 A247T probably benign Het
Prex2 T A 1: 11,162,263 S851R probably benign Het
Prss8 A G 7: 127,929,807 S26P probably damaging Het
Rasef A C 4: 73,734,503 L587R probably damaging Het
Rock2 T A 12: 16,977,683 C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,923 probably benign Het
Serpina6 A G 12: 103,646,887 W385R probably damaging Het
Slc12a5 T C 2: 164,979,343 M249T probably benign Het
Srsf9 T A 5: 115,332,592 I117N probably damaging Het
Taf1 G T X: 101,543,059 M313I possibly damaging Het
Tmem30a T C 9: 79,777,285 H95R probably damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Ttc21a T C 9: 119,941,280 V139A probably benign Het
Zfp236 A T 18: 82,630,000 V1012D probably damaging Het
Zfp612 C A 8: 110,089,297 Q379K probably damaging Het
Zfp930 C T 8: 69,228,246 Q198* probably null Het
Other mutations in Kcna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Kcna1 APN 6 126642906 missense probably damaging 1.00
IGL02361:Kcna1 APN 6 126642906 missense probably damaging 1.00
IGL02900:Kcna1 APN 6 126643094 missense probably damaging 1.00
IGL03046:Kcna1 UTSW 6 126642185 missense possibly damaging 0.84
R0694:Kcna1 UTSW 6 126642245 missense probably damaging 0.99
R1530:Kcna1 UTSW 6 126642531 missense probably benign
R1531:Kcna1 UTSW 6 126642067 missense probably benign 0.30
R1676:Kcna1 UTSW 6 126642682 missense probably damaging 1.00
R1750:Kcna1 UTSW 6 126642808 missense probably benign 0.06
R3815:Kcna1 UTSW 6 126643046 missense probably damaging 1.00
R4012:Kcna1 UTSW 6 126642910 missense probably benign
R4290:Kcna1 UTSW 6 126641875 missense probably damaging 1.00
R4820:Kcna1 UTSW 6 126642136 missense probably damaging 1.00
R5114:Kcna1 UTSW 6 126642367 missense probably damaging 0.99
R5433:Kcna1 UTSW 6 126643112 missense probably damaging 1.00
R6171:Kcna1 UTSW 6 126642323 missense probably damaging 1.00
R7561:Kcna1 UTSW 6 126642145 missense probably damaging 1.00
R7834:Kcna1 UTSW 6 126642740 missense probably benign
R7917:Kcna1 UTSW 6 126642740 missense probably benign
R8040:Kcna1 UTSW 6 126642740 missense probably benign
R8167:Kcna1 UTSW 6 126643480 start gained probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-07-21