Incidental Mutation 'R8190:Kcnh8'
ID 635117
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 067613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 52909737-53286222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53263936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 811 (P811L)
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: P811L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: P811L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,706,030 (GRCm39) V113A possibly damaging Het
Adcy7 A G 8: 89,037,666 (GRCm39) M245V possibly damaging Het
Adgra1 G T 7: 139,456,034 (GRCm39) R554L probably benign Het
Agfg2 T A 5: 137,653,664 (GRCm39) M351L probably benign Het
Ahnak G A 19: 8,979,619 (GRCm39) G301D probably benign Het
Ambra1 C T 2: 91,602,697 (GRCm39) A227V possibly damaging Het
Ankrd24 T A 10: 81,474,152 (GRCm39) D166E unknown Het
Anks1 C T 17: 28,205,778 (GRCm39) P341S probably benign Het
Ano4 C T 10: 88,808,607 (GRCm39) D766N probably benign Het
Apol7e A T 15: 77,602,007 (GRCm39) T202S possibly damaging Het
Arhgap44 C A 11: 64,929,479 (GRCm39) C275F probably damaging Het
Arl6ip4 A C 5: 124,255,095 (GRCm39) K95T probably damaging Het
Bbs9 T C 9: 22,590,284 (GRCm39) L674P probably damaging Het
Bmp4 T A 14: 46,621,972 (GRCm39) M191L probably benign Het
Celsr1 A G 15: 85,787,090 (GRCm39) L2753P probably damaging Het
Cerkl T A 2: 79,163,901 (GRCm39) H473L probably benign Het
Cfap99 A T 5: 34,482,502 (GRCm39) T538S possibly damaging Het
Clock A T 5: 76,375,051 (GRCm39) V706E probably damaging Het
Cpne6 T C 14: 55,749,485 (GRCm39) M15T probably benign Het
Deaf1 T C 7: 140,894,324 (GRCm39) D351G probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Eif3j1 A T 2: 121,877,969 (GRCm39) D119V probably damaging Het
Eps8l1 C A 7: 4,474,297 (GRCm39) S195Y probably benign Het
Exosc5 T C 7: 25,365,769 (GRCm39) probably null Het
Fabp2 A T 3: 122,690,419 (GRCm39) H34L probably benign Het
Fbln5 T A 12: 101,723,555 (GRCm39) Q382L probably damaging Het
Fbxo34 C A 14: 47,767,879 (GRCm39) T464K possibly damaging Het
Fndc8 T G 11: 82,788,686 (GRCm39) V172G probably damaging Het
Frs2 C T 10: 116,910,784 (GRCm39) V193I possibly damaging Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gprin3 A G 6: 59,331,456 (GRCm39) S284P possibly damaging Het
Gsta4 T C 9: 78,105,654 (GRCm39) V28A possibly damaging Het
Herc1 T A 9: 66,325,733 (GRCm39) D1402E probably benign Het
Hipk2 A T 6: 38,795,728 (GRCm39) S180R possibly damaging Het
Hrg A T 16: 22,779,793 (GRCm39) H357L unknown Het
Htr4 A G 18: 62,570,971 (GRCm39) Q342R possibly damaging Het
Impa1 A G 3: 10,386,688 (GRCm39) S184P possibly damaging Het
Iqgap3 A T 3: 87,998,086 (GRCm39) Q281L probably damaging Het
Lpin1 T C 12: 16,599,003 (GRCm39) I628V Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mfn1 A T 3: 32,622,538 (GRCm39) I599F possibly damaging Het
Nalcn T A 14: 123,837,351 (GRCm39) R4S possibly damaging Het
Nbeal2 C T 9: 110,455,158 (GRCm39) R2580Q probably benign Het
Nlrp4b A G 7: 10,448,319 (GRCm39) N174S probably damaging Het
Or3a4 T A 11: 73,945,305 (GRCm39) R93S probably benign Het
Or4q3 A T 14: 50,583,179 (GRCm39) V240D probably damaging Het
Or52a5 A T 7: 103,426,802 (GRCm39) V250D probably damaging Het
Or5p63 A G 7: 107,811,014 (GRCm39) F241L possibly damaging Het
Pabpc2 G A 18: 39,908,520 (GRCm39) R595Q probably benign Het
Pak6 C T 2: 118,520,578 (GRCm39) Q190* probably null Het
Pds5a A T 5: 65,781,341 (GRCm39) H1046Q probably damaging Het
Plin1 A G 7: 79,373,028 (GRCm39) S314P probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptpra G A 2: 30,328,351 (GRCm39) S224N probably damaging Het
Rbp1 T G 9: 98,326,709 (GRCm39) W107G probably damaging Het
Rgs7bp T C 13: 105,189,617 (GRCm39) N61D probably damaging Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Smarcc1 T A 9: 110,031,602 (GRCm39) D783E probably benign Het
Sufu G T 19: 46,389,636 (GRCm39) E86* probably null Het
Synm A T 7: 67,383,654 (GRCm39) M1336K probably benign Het
Tgm1 C T 14: 55,942,341 (GRCm39) G670D probably damaging Het
Tmc8 T G 11: 117,682,186 (GRCm39) probably null Het
Togaram1 T C 12: 65,053,686 (GRCm39) V1322A probably damaging Het
Uxs1 A T 1: 43,810,911 (GRCm39) I225K possibly damaging Het
Vil1 G T 1: 74,474,052 (GRCm39) E796* probably null Het
Vmn1r174 T C 7: 23,453,568 (GRCm39) F78S probably damaging Het
Vps13d T A 4: 144,879,321 (GRCm39) I1501F Het
Vps8 A T 16: 21,393,780 (GRCm39) T1216S possibly damaging Het
Yipf4 G T 17: 74,800,967 (GRCm39) R95L probably damaging Het
Zan T A 5: 137,465,346 (GRCm39) T470S probably damaging Het
Zfp113 G T 5: 138,143,258 (GRCm39) H331N probably damaging Het
Zfp62 A G 11: 49,106,902 (GRCm39) Y331C probably damaging Het
Zfyve26 T C 12: 79,327,610 (GRCm39) H580R 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
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
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
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'- GGGATCCTCTGTCTCACATAGC -3'
(R):5'- AAAAGATTGCACACATGGCTCAG -3'

Sequencing Primer
(F):5'- TCTGTCTCACATAGCAAAAAGACTGG -3'
(R):5'- TTGCACACATGGCTCAGGAAAAC -3'
Posted On 2020-07-13