Incidental Mutation 'R1531:Kcna1'
ID 166198
Institutional Source Beutler Lab
Gene Symbol Kcna1
Ensembl Gene ENSMUSG00000047976
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 1
Synonyms mouse brain potassium channel protein-1, MBK1, Shak, Kv1.1, Mk-1, mceph
MMRRC Submission 039570-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.445) question?
Stock # R1531 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 126640397-126646384 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126642067 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 430 (V430A)
Ref Sequence ENSEMBL: ENSMUSP00000144947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055168] [ENSMUST00000203094]
AlphaFold P16388
Predicted Effect probably benign
Transcript: ENSMUST00000055168
AA Change: V430A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000055225
Gene: ENSMUSG00000047976
AA Change: V430A

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 benign
Transcript: ENSMUST00000203094
AA Change: V430A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144947
Gene: ENSMUSG00000047976
AA Change: V430A

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F05Rik A G 10: 43,525,320 (GRCm38) V211A probably benign Het
Agtpbp1 T A 13: 59,500,634 (GRCm38) probably null Het
Aldh3b2 T G 19: 3,977,543 (GRCm38) F28C probably damaging Het
Apaf1 T C 10: 91,054,521 (GRCm38) N540S probably damaging Het
Apob T C 12: 7,997,880 (GRCm38) I953T possibly damaging Het
Arhgef1 A G 7: 24,924,998 (GRCm38) T816A probably damaging Het
Arid4a T A 12: 71,076,005 (GRCm38) F1053L probably benign Het
Atxn1l A C 8: 109,732,059 (GRCm38) F524V probably damaging Het
Cad T A 5: 31,076,219 (GRCm38) M1874K probably benign Het
Ccdc40 G A 11: 119,263,189 (GRCm38) V1096I probably benign Het
Ccdc93 A G 1: 121,480,822 (GRCm38) D358G probably benign Het
Cd96 T C 16: 46,117,806 (GRCm38) T99A probably benign Het
Cdc42ep3 A T 17: 79,335,044 (GRCm38) M149K probably benign Het
Cog4 A G 8: 110,879,721 (GRCm38) E613G probably benign Het
Crebbp A T 16: 4,084,517 (GRCm38) I2286N probably benign Het
Csf1 T C 3: 107,748,338 (GRCm38) E459G possibly damaging Het
Csrp2 A T 10: 110,935,205 (GRCm38) Y57F probably benign Het
Ctdspl C T 9: 119,040,582 (GRCm38) P244L probably damaging Het
Cyp2c29 A G 19: 39,324,968 (GRCm38) R303G probably damaging Het
Cyp4a10 C A 4: 115,518,435 (GRCm38) Y38* probably null Het
Dmgdh T A 13: 93,744,411 (GRCm38) I783N probably damaging Het
Efcc1 G A 6: 87,731,166 (GRCm38) E92K probably benign Het
Eif2ak4 T A 2: 118,443,210 (GRCm38) L872H probably damaging Het
Elp2 T A 18: 24,631,404 (GRCm38) S603T probably benign Het
Eml2 T A 7: 19,196,254 (GRCm38) L300H probably damaging Het
Esp3 A G 17: 40,635,936 (GRCm38) K50R possibly damaging Het
Esrp1 A G 4: 11,379,375 (GRCm38) F136L probably damaging Het
Exoc1 T A 5: 76,559,164 (GRCm38) D497E probably damaging Het
Fat3 A G 9: 15,997,465 (GRCm38) S2414P probably damaging Het
Foxj3 C T 4: 119,620,201 (GRCm38) P369S unknown Het
Gkn2 G T 6: 87,375,939 (GRCm38) probably null Het
Gm21905 A T 5: 67,946,381 (GRCm38) probably benign Het
Grhl1 T A 12: 24,582,963 (GRCm38) probably null Het
Grk6 A G 13: 55,452,154 (GRCm38) Y221C probably damaging Het
Hcrtr1 T A 4: 130,130,927 (GRCm38) K389* probably null Het
Hk1 G A 10: 62,284,784 (GRCm38) R545C probably damaging Het
Hsp90b1 A T 10: 86,696,795 (GRCm38) I339N probably benign Het
Ikzf3 T C 11: 98,490,446 (GRCm38) R103G probably damaging Het
Itgad A C 7: 128,178,370 (GRCm38) I141L probably benign Het
Jmjd6 T A 11: 116,842,440 (GRCm38) Y137F probably benign Het
Kel A G 6: 41,688,626 (GRCm38) V520A probably damaging Het
Klhl41 G A 2: 69,670,740 (GRCm38) V182I probably benign Het
Ldhb C A 6: 142,501,395 (GRCm38) M64I probably benign Het
Lrrc23 A G 6: 124,776,114 (GRCm38) S190P possibly damaging Het
Mb21d1 A G 9: 78,442,481 (GRCm38) Y200H probably damaging Het
Mboat2 T C 12: 24,959,030 (GRCm38) V445A probably benign Het
Mlycd G A 8: 119,401,519 (GRCm38) W188* probably null Het
Mpp3 C T 11: 102,008,649 (GRCm38) E349K probably benign Het
Myh4 A G 11: 67,250,540 (GRCm38) M780V probably benign Het
Myh6 G A 14: 54,956,506 (GRCm38) R809C probably damaging Het
Mylip G A 13: 45,406,570 (GRCm38) V161M possibly damaging Het
Nrp1 G A 8: 128,425,969 (GRCm38) V220I probably null Het
Nup210 A T 6: 91,034,841 (GRCm38) N455K probably benign Het
Olfr116 A T 17: 37,624,352 (GRCm38) Y94* probably null Het
Olfr583 C A 7: 103,051,588 (GRCm38) Q97K probably benign Het
Pbld2 G T 10: 63,053,953 (GRCm38) probably null Het
Pclo C G 5: 14,521,903 (GRCm38) P434R probably damaging Het
Pdlim3 A G 8: 45,896,763 (GRCm38) K37E probably damaging Het
Prkdc T A 16: 15,772,106 (GRCm38) I2611N probably benign Het
Prr12 T C 7: 45,028,530 (GRCm38) D2019G unknown Het
Rab27a A G 9: 73,095,403 (GRCm38) T205A probably benign Het
Rcan3 A G 4: 135,425,284 (GRCm38) L42P probably damaging Het
Rchy1 T C 5: 91,955,615 (GRCm38) probably null Het
Sema6a T C 18: 47,248,999 (GRCm38) H827R probably damaging Het
Sertad4 A G 1: 192,850,950 (GRCm38) probably null Het
Smarcd1 T A 15: 99,707,383 (GRCm38) C282S probably damaging Het
Speg A G 1: 75,401,222 (GRCm38) T769A possibly damaging Het
Syne1 T A 10: 5,347,875 (GRCm38) K1141* probably null Het
Synpo2 T C 3: 123,117,666 (GRCm38) E110G probably benign Het
Tg T A 15: 66,850,502 (GRCm38) D333E probably benign Het
Tmem132c A G 5: 127,359,891 (GRCm38) Y148C probably damaging Het
Tmem215 T A 4: 40,473,965 (GRCm38) V14E probably damaging Het
Tmem229b A G 12: 78,964,911 (GRCm38) L82P probably damaging Het
Togaram1 A G 12: 64,966,265 (GRCm38) T97A probably benign Het
Trappc9 G A 15: 72,693,548 (GRCm38) R965* probably null Het
Trio T C 15: 27,832,985 (GRCm38) I104V probably benign Het
Trp73 A G 4: 154,063,895 (GRCm38) F354S probably benign Het
Ttyh2 T C 11: 114,686,452 (GRCm38) L63P probably damaging Het
Ulk4 G C 9: 121,044,775 (GRCm38) P1197A probably damaging Het
Vmn1r176 T C 7: 23,835,111 (GRCm38) M206V possibly damaging Het
Vps8 T A 16: 21,466,476 (GRCm38) Y402* probably null Het
Zbtb41 A G 1: 139,423,193 (GRCm38) I15V probably benign Het
Zc3hav1 T C 6: 38,307,235 (GRCm38) I982V possibly damaging Het
Zmynd19 T A 2: 24,958,111 (GRCm38) N106K probably benign Het
Other mutations in Kcna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Kcna1 APN 6 126,642,906 (GRCm38) missense probably damaging 1.00
IGL02361:Kcna1 APN 6 126,642,906 (GRCm38) missense probably damaging 1.00
IGL02900:Kcna1 APN 6 126,643,094 (GRCm38) missense probably damaging 1.00
IGL03046:Kcna1 UTSW 6 126,642,185 (GRCm38) missense possibly damaging 0.84
R0694:Kcna1 UTSW 6 126,642,245 (GRCm38) missense probably damaging 0.99
R1530:Kcna1 UTSW 6 126,642,531 (GRCm38) missense probably benign
R1676:Kcna1 UTSW 6 126,642,682 (GRCm38) missense probably damaging 1.00
R1750:Kcna1 UTSW 6 126,642,808 (GRCm38) missense probably benign 0.06
R3815:Kcna1 UTSW 6 126,643,046 (GRCm38) missense probably damaging 1.00
R4012:Kcna1 UTSW 6 126,642,910 (GRCm38) missense probably benign
R4290:Kcna1 UTSW 6 126,641,875 (GRCm38) missense probably damaging 1.00
R4492:Kcna1 UTSW 6 126,642,275 (GRCm38) missense possibly damaging 0.95
R4820:Kcna1 UTSW 6 126,642,136 (GRCm38) missense probably damaging 1.00
R5114:Kcna1 UTSW 6 126,642,367 (GRCm38) missense probably damaging 0.99
R5433:Kcna1 UTSW 6 126,643,112 (GRCm38) missense probably damaging 1.00
R6171:Kcna1 UTSW 6 126,642,323 (GRCm38) missense probably damaging 1.00
R7561:Kcna1 UTSW 6 126,642,145 (GRCm38) missense probably damaging 1.00
R7834:Kcna1 UTSW 6 126,642,740 (GRCm38) missense probably benign
R8040:Kcna1 UTSW 6 126,642,740 (GRCm38) missense probably benign
R8167:Kcna1 UTSW 6 126,643,480 (GRCm38) start gained probably benign
R8311:Kcna1 UTSW 6 126,642,292 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13