Incidental Mutation 'R1669:Kcnh8'
ID 187501
Institutional Source Beutler Lab
Gene Symbol Kcnh8
Ensembl Gene ENSMUSG00000035580
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 8
Synonyms ELK1, Kv12.1, C130090D05Rik
MMRRC Submission 039705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1669 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 52909737-53286222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53200996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 477 (Y477N)
Ref Sequence ENSEMBL: ENSMUSP00000049206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039366]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039366
AA Change: Y477N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: Y477N

DomainStartEndE-ValueType
Blast:PAS 16 88 9e-35 BLAST
PAC 94 136 3.42e-9 SMART
Pfam:Ion_trans 221 481 4.9e-36 PFAM
Pfam:Ion_trans_2 411 475 1.1e-12 PFAM
cNMP 551 666 1.17e-16 SMART
low complexity region 710 722 N/A INTRINSIC
coiled coil region 853 897 N/A INTRINSIC
low complexity region 1020 1036 N/A INTRINSIC
Meta Mutation Damage Score 0.8553 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (85/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A C 9: 122,086,249 (GRCm39) L258R possibly damaging Het
Ap3d1 A G 10: 80,546,670 (GRCm39) probably benign Het
Aplp2 G T 9: 31,079,029 (GRCm39) probably benign Het
Arhgap11a T C 2: 113,672,257 (GRCm39) D237G possibly damaging Het
Arhgef4 A T 1: 34,771,239 (GRCm39) H1182L possibly damaging Het
Ash1l G A 3: 88,974,549 (GRCm39) probably null Het
Bicdl1 C A 5: 115,794,075 (GRCm39) V224L possibly damaging Het
Cacna1h C A 17: 25,602,445 (GRCm39) V1422L probably damaging Het
Card10 T C 15: 78,678,153 (GRCm39) E365G probably benign Het
Cd180 C T 13: 102,841,998 (GRCm39) T348I probably damaging Het
Cds2 T A 2: 132,137,439 (GRCm39) probably null Het
Chaf1a C A 17: 56,370,339 (GRCm39) D601E probably benign Het
Coprs C T 8: 13,935,704 (GRCm39) W12* probably null Het
Cpsf3 T A 12: 21,355,332 (GRCm39) M424K probably damaging Het
Cxcl13 T A 5: 96,106,600 (GRCm39) N57K probably damaging Het
Dact1 C T 12: 71,365,547 (GRCm39) T776M probably damaging Het
Depdc1a A G 3: 159,228,561 (GRCm39) K438E probably benign Het
Dop1b T A 16: 93,566,548 (GRCm39) S992T probably damaging Het
Dusp11 A T 6: 85,927,008 (GRCm39) H202Q probably benign Het
Ezr T C 17: 7,006,712 (GRCm39) E584G probably damaging Het
F830104G03Rik A G 3: 56,797,998 (GRCm39) V6A unknown Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Gapvd1 T G 2: 34,620,694 (GRCm39) probably null Het
Gm10267 T C 18: 44,290,367 (GRCm39) R47G probably damaging Het
Hectd3 T A 4: 116,856,840 (GRCm39) D462E probably damaging Het
Hfe A T 13: 23,890,110 (GRCm39) L133* probably null Het
Hpcal4 T C 4: 123,082,869 (GRCm39) F72L probably damaging Het
Itgb4 G A 11: 115,882,156 (GRCm39) R825H probably benign Het
Kctd1 T C 18: 15,195,517 (GRCm39) N369D possibly damaging Het
Kdm1b C T 13: 47,222,024 (GRCm39) R488C probably damaging Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klra8 A T 6: 130,092,592 (GRCm39) C236* probably null Het
Lca5l T C 16: 95,961,008 (GRCm39) R485G possibly damaging Het
Lrrc2 A G 9: 110,810,718 (GRCm39) T363A probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyst G A 13: 13,818,672 (GRCm39) G1314D possibly damaging Het
Mmp10 A T 9: 7,505,526 (GRCm39) probably null Het
Mmp13 A G 9: 7,277,926 (GRCm39) D273G probably benign Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Msh4 C T 3: 153,582,357 (GRCm39) R417Q possibly damaging Het
Nedd9 A T 13: 41,465,270 (GRCm39) V790E probably damaging Het
Nlgn1 C A 3: 25,490,298 (GRCm39) L476F probably damaging Het
Nox4 C A 7: 86,945,097 (GRCm39) Q118K probably benign Het
Nxf1 A G 19: 8,749,495 (GRCm39) T131A possibly damaging Het
Oog3 C A 4: 143,885,008 (GRCm39) R309S probably benign Het
Oosp3 C T 19: 11,678,378 (GRCm39) probably benign Het
Or10a3 T A 7: 108,479,920 (GRCm39) T298S probably benign Het
Or2a7 T A 6: 43,151,755 (GRCm39) S278R probably damaging Het
Or2w6 A T 13: 21,843,456 (GRCm39) S12R possibly damaging Het
Or4c126 T A 2: 89,824,144 (GRCm39) probably null Het
Or51a42 A T 7: 103,708,516 (GRCm39) S98T probably benign Het
Or5b97 A T 19: 12,878,652 (GRCm39) I164K possibly damaging Het
P2ry6 A G 7: 100,587,630 (GRCm39) V243A probably damaging Het
Pgc C A 17: 48,044,715 (GRCm39) P321T probably damaging Het
Pramel22 T G 4: 143,380,916 (GRCm39) E369A possibly damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Prkdc T A 16: 15,551,922 (GRCm39) S2043T probably damaging Het
Rasal3 T C 17: 32,622,072 (GRCm39) N96D possibly damaging Het
Rnf4 T C 5: 34,508,624 (GRCm39) F162S probably damaging Het
Ros1 A T 10: 52,037,907 (GRCm39) N421K probably damaging Het
Rtn4rl1 A G 11: 75,156,753 (GRCm39) D395G probably benign Het
Scn8a T G 15: 100,909,001 (GRCm39) V823G probably damaging Het
Sema3d T A 5: 12,558,051 (GRCm39) probably benign Het
Slc12a2 T C 18: 58,037,307 (GRCm39) I501T probably damaging Het
Slc12a7 C T 13: 73,943,232 (GRCm39) T382I probably benign Het
Slc16a12 T A 19: 34,657,781 (GRCm39) I41L probably benign Het
Slc1a1 C A 19: 28,889,194 (GRCm39) T489K probably benign Het
Slc24a3 C T 2: 145,455,512 (GRCm39) P467L probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Snai2 A T 16: 14,524,908 (GRCm39) Y138F possibly damaging Het
Sorcs1 A C 19: 50,463,860 (GRCm39) Y197D probably damaging Het
Sppl2a T A 2: 126,759,714 (GRCm39) probably benign Het
Srgap3 G A 6: 112,699,865 (GRCm39) P1038S probably benign Het
Ttn T C 2: 76,554,807 (GRCm39) E30699G probably damaging Het
Vmn2r124 T A 17: 18,283,206 (GRCm39) M300K possibly damaging Het
Vwf T C 6: 125,624,869 (GRCm39) S1873P possibly damaging Het
Wrap73 A G 4: 154,240,588 (GRCm39) D360G probably damaging Het
Zfp366 T C 13: 99,366,069 (GRCm39) M410T probably damaging Het
Zfp608 C T 18: 55,120,811 (GRCm39) V259I probably benign Het
Zfp69 C T 4: 120,804,695 (GRCm39) probably benign Het
Zfp995 T C 17: 22,098,945 (GRCm39) T430A probably benign Het
Other mutations in Kcnh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Kcnh8 APN 17 53,141,708 (GRCm39) missense probably damaging 1.00
IGL01901:Kcnh8 APN 17 53,201,148 (GRCm39) splice site probably benign
IGL01959:Kcnh8 APN 17 53,141,635 (GRCm39) missense probably damaging 1.00
IGL02214:Kcnh8 APN 17 53,184,939 (GRCm39) missense possibly damaging 0.88
IGL02528:Kcnh8 APN 17 53,110,556 (GRCm39) missense probably damaging 1.00
IGL02620:Kcnh8 APN 17 53,205,525 (GRCm39) missense probably damaging 0.99
IGL02688:Kcnh8 APN 17 53,266,471 (GRCm39) missense probably benign 0.00
IGL02931:Kcnh8 APN 17 53,263,650 (GRCm39) missense probably benign 0.00
IGL02950:Kcnh8 APN 17 53,263,795 (GRCm39) missense probably benign 0.22
Incompetent UTSW 17 53,201,129 (GRCm39) missense probably damaging 1.00
leak UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R0282:Kcnh8 UTSW 17 53,032,879 (GRCm39) missense probably damaging 1.00
R0448:Kcnh8 UTSW 17 53,284,648 (GRCm39) splice site probably null
R0496:Kcnh8 UTSW 17 53,032,886 (GRCm39) missense probably benign 0.19
R0601:Kcnh8 UTSW 17 53,201,033 (GRCm39) missense probably damaging 1.00
R0671:Kcnh8 UTSW 17 53,285,141 (GRCm39) nonsense probably null
R0891:Kcnh8 UTSW 17 53,212,242 (GRCm39) missense probably damaging 1.00
R0971:Kcnh8 UTSW 17 53,032,927 (GRCm39) missense probably benign 0.00
R1054:Kcnh8 UTSW 17 53,110,512 (GRCm39) missense probably damaging 1.00
R1237:Kcnh8 UTSW 17 53,200,989 (GRCm39) missense probably damaging 1.00
R1237:Kcnh8 UTSW 17 53,200,988 (GRCm39) missense probably damaging 1.00
R1565:Kcnh8 UTSW 17 53,263,909 (GRCm39) missense probably benign
R1657:Kcnh8 UTSW 17 53,146,153 (GRCm39) missense probably damaging 1.00
R1786:Kcnh8 UTSW 17 53,200,961 (GRCm39) missense probably damaging 1.00
R1803:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R1804:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R1929:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R1980:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R1981:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R1982:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2016:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2017:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2132:Kcnh8 UTSW 17 53,200,961 (GRCm39) missense probably damaging 1.00
R2133:Kcnh8 UTSW 17 53,200,961 (GRCm39) missense probably damaging 1.00
R2208:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2265:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2266:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2267:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2303:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2309:Kcnh8 UTSW 17 53,285,067 (GRCm39) missense probably damaging 1.00
R2760:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2764:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2857:Kcnh8 UTSW 17 53,284,961 (GRCm39) missense probably benign
R2898:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R2987:Kcnh8 UTSW 17 53,263,763 (GRCm39) missense probably benign 0.05
R3031:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R3157:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R3158:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4080:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4081:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4082:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4087:Kcnh8 UTSW 17 53,110,428 (GRCm39) missense possibly damaging 0.93
R4132:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4158:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4213:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4301:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4302:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4383:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4385:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4400:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4490:Kcnh8 UTSW 17 53,268,905 (GRCm39) critical splice donor site probably null
R4493:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4494:Kcnh8 UTSW 17 53,032,934 (GRCm39) small deletion probably benign
R4611:Kcnh8 UTSW 17 52,909,864 (GRCm39) missense probably benign 0.22
R4728:Kcnh8 UTSW 17 53,032,898 (GRCm39) missense probably damaging 1.00
R4810:Kcnh8 UTSW 17 53,212,248 (GRCm39) splice site probably null
R4927:Kcnh8 UTSW 17 53,185,009 (GRCm39) missense probably damaging 1.00
R4984:Kcnh8 UTSW 17 53,184,995 (GRCm39) missense probably damaging 1.00
R5017:Kcnh8 UTSW 17 53,200,958 (GRCm39) missense probably damaging 1.00
R5214:Kcnh8 UTSW 17 53,205,486 (GRCm39) missense probably damaging 1.00
R5272:Kcnh8 UTSW 17 53,212,043 (GRCm39) missense probably damaging 0.97
R5386:Kcnh8 UTSW 17 53,033,023 (GRCm39) missense probably benign 0.10
R5472:Kcnh8 UTSW 17 53,284,844 (GRCm39) missense possibly damaging 0.71
R5500:Kcnh8 UTSW 17 53,033,008 (GRCm39) missense probably benign 0.00
R5714:Kcnh8 UTSW 17 53,285,150 (GRCm39) missense probably benign 0.31
R5866:Kcnh8 UTSW 17 53,263,804 (GRCm39) missense probably benign 0.05
R5903:Kcnh8 UTSW 17 53,110,364 (GRCm39) missense possibly damaging 0.87
R6969:Kcnh8 UTSW 17 53,184,971 (GRCm39) nonsense probably null
R6994:Kcnh8 UTSW 17 53,284,723 (GRCm39) missense probably benign 0.02
R7101:Kcnh8 UTSW 17 53,212,038 (GRCm39) missense probably damaging 1.00
R7189:Kcnh8 UTSW 17 53,201,145 (GRCm39) splice site probably null
R7228:Kcnh8 UTSW 17 53,263,744 (GRCm39) missense probably benign 0.01
R7372:Kcnh8 UTSW 17 53,201,129 (GRCm39) missense probably damaging 1.00
R7751:Kcnh8 UTSW 17 53,268,871 (GRCm39) missense probably damaging 1.00
R7819:Kcnh8 UTSW 17 53,263,743 (GRCm39) missense probably benign
R7952:Kcnh8 UTSW 17 53,266,493 (GRCm39) missense probably benign 0.02
R8176:Kcnh8 UTSW 17 53,285,122 (GRCm39) missense probably damaging 1.00
R8190:Kcnh8 UTSW 17 53,263,936 (GRCm39) missense probably damaging 1.00
R8407:Kcnh8 UTSW 17 53,212,101 (GRCm39) missense probably damaging 1.00
R8473:Kcnh8 UTSW 17 53,285,320 (GRCm39) missense probably benign
R8716:Kcnh8 UTSW 17 53,284,780 (GRCm39) missense probably benign 0.02
R8943:Kcnh8 UTSW 17 53,104,486 (GRCm39) missense probably benign 0.00
R9051:Kcnh8 UTSW 17 53,141,642 (GRCm39) missense probably damaging 1.00
R9211:Kcnh8 UTSW 17 53,146,236 (GRCm39) missense probably damaging 1.00
R9233:Kcnh8 UTSW 17 53,285,168 (GRCm39) missense probably damaging 1.00
R9243:Kcnh8 UTSW 17 53,205,542 (GRCm39) missense probably damaging 1.00
R9327:Kcnh8 UTSW 17 53,146,084 (GRCm39) missense probably damaging 0.99
R9640:Kcnh8 UTSW 17 53,185,089 (GRCm39) missense probably damaging 1.00
R9646:Kcnh8 UTSW 17 53,104,573 (GRCm39) missense probably benign 0.25
RF009:Kcnh8 UTSW 17 53,285,267 (GRCm39) missense probably benign 0.00
RF010:Kcnh8 UTSW 17 53,285,267 (GRCm39) missense probably benign 0.00
RF011:Kcnh8 UTSW 17 53,285,267 (GRCm39) missense probably benign 0.00
RF021:Kcnh8 UTSW 17 53,285,267 (GRCm39) missense probably benign 0.00
RF022:Kcnh8 UTSW 17 53,285,267 (GRCm39) missense probably benign 0.00
Z1088:Kcnh8 UTSW 17 53,285,320 (GRCm39) missense probably benign
Z1088:Kcnh8 UTSW 17 53,032,918 (GRCm39) missense probably damaging 1.00
Z1176:Kcnh8 UTSW 17 53,201,089 (GRCm39) missense probably damaging 0.98
Z1177:Kcnh8 UTSW 17 53,285,121 (GRCm39) missense possibly damaging 0.91
Z1177:Kcnh8 UTSW 17 53,110,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACTGAGGGGTTGTATCCATATGCTC -3'
(R):5'- GGTAACACTGTACCTGTCTTATGCCTG -3'

Sequencing Primer
(F):5'- TCCATATGCTCCTAGCAATGGAATC -3'
(R):5'- ACCTGTCTTATGCCTGTATTAGAAC -3'
Posted On 2014-05-09