Incidental Mutation 'R1803:Kcnh8'
ID 203338
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 039833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1803 (G1)
Quality Score 182
Status Not validated
Chromosome 17
Chromosomal Location 52909737-53286222 bp(+) (GRCm39)
Type of Mutation small deletion (8 aa in frame mutation)
DNA Base Change (assembly) GAGACCAACGAGCAGCTGATGCTTCAGA to GAGA at 53032934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change at position 74 (74)
Ref Sequence ENSEMBL: ENSMUSP00000049206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039366]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039366
AA Change: 74
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: 74

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 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A T 17: 79,935,095 (GRCm39) probably benign Het
Adgrl3 C T 5: 81,919,464 (GRCm39) R586* probably null Het
Arpp21 T C 9: 111,956,466 (GRCm39) T471A possibly damaging Het
Blnk T C 19: 40,940,821 (GRCm39) E194G probably damaging Het
Cd44 G A 2: 102,664,597 (GRCm39) P332S probably damaging Het
Cd47 T C 16: 49,688,169 (GRCm39) F30L possibly damaging Het
Cdh23 T C 10: 60,167,060 (GRCm39) E1861G probably damaging Het
Cdkal1 T A 13: 29,701,454 (GRCm39) M332L probably damaging Het
Cul9 A G 17: 46,814,023 (GRCm39) S2284P probably damaging Het
Cyp2a5 G T 7: 26,534,971 (GRCm39) probably null Het
Dcp2 T C 18: 44,528,984 (GRCm39) I33T probably damaging Het
Ddx52 A T 11: 83,836,958 (GRCm39) I150L probably damaging Het
Dennd5a T A 7: 109,497,820 (GRCm39) T1067S probably benign Het
Dnpep A T 1: 75,286,058 (GRCm39) L419* probably null Het
Dock8 A G 19: 25,109,599 (GRCm39) K927R probably benign Het
Dpy19l4 A T 4: 11,281,020 (GRCm39) V475E possibly damaging Het
Edf1 C T 2: 25,450,206 (GRCm39) S41F probably damaging Het
Elapor2 A G 5: 9,477,832 (GRCm39) H410R probably benign Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
Epha3 T C 16: 63,422,651 (GRCm39) K579E probably benign Het
Exoc1 A G 5: 76,709,288 (GRCm39) N23S probably benign Het
Flt3 C A 5: 147,303,865 (GRCm39) E358* probably null Het
Fzd1 A T 5: 4,806,385 (GRCm39) I399K probably damaging Het
Gdi2 T A 13: 3,614,547 (GRCm39) Y333* probably null Het
Gm10479 A G 12: 20,483,654 (GRCm39) H91R probably benign Het
Gm10842 G A 11: 105,037,867 (GRCm39) R50K unknown Het
Grin2c A T 11: 115,151,558 (GRCm39) probably null Het
Grk2 C T 19: 4,344,911 (GRCm39) V53M probably damaging Het
H2-M10.2 C T 17: 36,596,763 (GRCm39) M104I probably benign Het
Hyou1 C T 9: 44,295,479 (GRCm39) Q290* probably null Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Itgb2 T C 10: 77,400,624 (GRCm39) S746P probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Klhl2 T C 8: 65,212,831 (GRCm39) E236G probably damaging Het
Krtap19-4 C A 16: 88,681,879 (GRCm39) G26C unknown Het
Krtap4-16 G A 11: 99,741,998 (GRCm39) T134I possibly damaging Het
Lamb2 A G 9: 108,365,298 (GRCm39) H1318R probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Mfsd10 A T 5: 34,794,094 (GRCm39) D6E possibly damaging Het
Mnat1 G T 12: 73,226,007 (GRCm39) G91* probably null Het
Mns1 A T 9: 72,360,016 (GRCm39) I389F probably damaging Het
Morc1 A T 16: 48,443,001 (GRCm39) T829S probably benign Het
Morn5 T A 2: 35,943,089 (GRCm39) V63E probably benign Het
Mybpc1 T C 10: 88,389,157 (GRCm39) T404A possibly damaging Het
Npc1l1 A T 11: 6,178,846 (GRCm39) M188K probably damaging Het
Nrcam T A 12: 44,618,991 (GRCm39) M846K probably benign Het
Nup210 A C 6: 91,051,264 (GRCm39) F373C probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5b111 A T 19: 13,291,535 (GRCm39) V38E possibly damaging Het
Or7g18 T C 9: 18,787,376 (GRCm39) V248A probably damaging Het
Osbpl8 T C 10: 111,110,910 (GRCm39) S471P probably damaging Het
Plekhn1 A T 4: 156,306,838 (GRCm39) I517N probably benign Het
Plin4 G T 17: 56,411,931 (GRCm39) T700K probably damaging Het
Plxna4 A T 6: 32,494,379 (GRCm39) V79D probably damaging Het
Prdm16 A T 4: 154,419,718 (GRCm39) M897K probably damaging Het
Ptprg T A 14: 12,091,410 (GRCm38) probably null Het
Rcan2 G T 17: 44,347,924 (GRCm39) C211F probably damaging Het
Rigi A G 4: 40,224,013 (GRCm39) S289P probably benign Het
Rxfp1 C T 3: 79,645,076 (GRCm39) C9Y probably benign Het
Scn2a G A 2: 65,501,111 (GRCm39) probably null Het
Scnn1a A C 6: 125,309,157 (GRCm39) R264S probably damaging Het
Sema4g T C 19: 44,986,459 (GRCm39) V345A probably benign Het
Sgo2b T A 8: 64,380,426 (GRCm39) D802V probably benign Het
Slc25a21 G A 12: 56,904,872 (GRCm39) T54I probably benign Het
Slc25a46 C T 18: 31,727,641 (GRCm39) E223K probably damaging Het
Slc25a54 A G 3: 109,010,013 (GRCm39) I171V probably benign Het
Slc7a6 T C 8: 106,919,088 (GRCm39) V224A possibly damaging Het
Smchd1 A T 17: 71,694,001 (GRCm39) V1248E probably damaging Het
Sort1 C A 3: 108,233,015 (GRCm39) F196L probably damaging Het
Sptbn4 G A 7: 27,118,008 (GRCm39) T357M probably damaging Het
Srrm3 T A 5: 135,885,983 (GRCm39) W308R probably damaging Het
Stard9 A T 2: 120,531,970 (GRCm39) E2742D probably benign Het
Tas1r1 T A 4: 152,116,705 (GRCm39) I310F probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tff1 A T 17: 31,380,560 (GRCm39) C85* probably null Het
Tlr11 C T 14: 50,598,104 (GRCm39) T30I probably benign Het
Trio T C 15: 27,748,426 (GRCm39) T1265A probably benign Het
Ttc7b T C 12: 100,373,261 (GRCm39) M338V possibly damaging Het
Umod T A 7: 119,063,947 (GRCm39) S620C probably damaging Het
Ust C A 10: 8,173,819 (GRCm39) probably null Het
Vmn1r176 A T 7: 23,534,609 (GRCm39) S181R probably damaging Het
Vmn1r202 T C 13: 22,686,313 (GRCm39) T35A probably benign Het
Vmn1r39 C A 6: 66,781,895 (GRCm39) R104L probably benign Het
Vps13b T A 15: 35,430,351 (GRCm39) Y286* probably null Het
Zfp579 G A 7: 4,996,769 (GRCm39) R381C probably damaging Het
Zfp85 A G 13: 67,899,747 (GRCm39) S71P probably benign Het
Zfyve16 A T 13: 92,640,593 (GRCm39) V1254E probably damaging 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
R1669:Kcnh8 UTSW 17 53,200,996 (GRCm39) missense probably damaging 1.00
R1786:Kcnh8 UTSW 17 53,200,961 (GRCm39) missense probably damaging 1.00
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'- TGCCTGACTGAAGTTGTGTCTTAAAC -3'
(R):5'- ATGTTCCCTGGAGAACTTCTC -3'

Sequencing Primer
(F):5'- GACTGAAGTTGTGTCTTAAACAAAAG -3'
(R):5'- CTTCTCCCAAACACTATAATTGAGTG -3'
Posted On 2014-06-23