Incidental Mutation 'R0496:Kcnh8'
ID 43978
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 038692-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0496 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 52909737-53286222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53032886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
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: T58A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: T58A

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 0.1403 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (99/101)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,774,005 (GRCm39) K1065E probably damaging Het
4933402N03Rik T C 7: 130,747,860 (GRCm39) N44S probably benign Het
Abca13 A G 11: 9,241,701 (GRCm39) D1188G probably benign Het
Abcb11 C T 2: 69,108,228 (GRCm39) probably benign Het
Abcc8 A T 7: 45,758,244 (GRCm39) I1274N probably damaging Het
Adamtsl1 G A 4: 86,259,435 (GRCm39) C827Y probably damaging Het
Agap3 T A 5: 24,706,241 (GRCm39) V369E probably damaging Het
Ankrd13b G A 11: 77,363,867 (GRCm39) R195C probably damaging Het
Ap3b1 A G 13: 94,609,446 (GRCm39) probably benign Het
Arhgef40 A T 14: 52,242,364 (GRCm39) probably benign Het
Atad5 A G 11: 79,991,182 (GRCm39) I692V probably benign Het
Atp5f1b G T 10: 127,922,043 (GRCm39) R310L possibly damaging Het
AY358078 A T 14: 52,040,989 (GRCm39) M103L unknown Het
Bcl9l T G 9: 44,420,815 (GRCm39) V1370G probably benign Het
Bglap3 T A 3: 88,276,444 (GRCm39) Q38L probably damaging Het
Bltp1 A G 3: 37,041,784 (GRCm39) T2721A probably damaging Het
Ccn2 G T 10: 24,473,413 (GRCm39) M317I possibly damaging Het
Cd38 T C 5: 44,026,233 (GRCm39) F6L probably damaging Het
Cela3a A C 4: 137,131,779 (GRCm39) V138G probably damaging Het
Cemip2 A T 19: 21,774,709 (GRCm39) N117I possibly damaging Het
Clvs1 T A 4: 9,424,241 (GRCm39) I229N probably damaging Het
Cpne1 G A 2: 155,921,339 (GRCm39) H16Y probably damaging Het
Ctc1 T C 11: 68,926,333 (GRCm39) L1069P probably damaging Het
Dgkd G A 1: 87,864,622 (GRCm39) S996N probably null Het
Dnah9 A T 11: 65,965,961 (GRCm39) M1685K probably null Het
Dnajb12 C T 10: 59,715,623 (GRCm39) R42* probably null Het
Dock5 T C 14: 68,054,967 (GRCm39) Q633R probably damaging Het
Dync2h1 A G 9: 7,155,180 (GRCm39) M868T probably benign Het
Enpp1 G T 10: 24,547,950 (GRCm39) H208Q probably benign Het
Epha7 T A 4: 28,821,292 (GRCm39) D152E probably damaging Het
Fancd2 T C 6: 113,532,091 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gm10964 A T 3: 103,646,745 (GRCm39) probably null Het
Gpbar1 T C 1: 74,318,140 (GRCm39) F128L probably benign Het
Gsx2 T A 5: 75,237,726 (GRCm39) M226K probably benign Het
Gucd1 T C 10: 75,347,100 (GRCm39) D50G possibly damaging Het
Has1 A G 17: 18,064,008 (GRCm39) Y544H probably benign Het
Hc A T 2: 34,903,583 (GRCm39) Y1024N probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Ift122 T A 6: 115,882,863 (GRCm39) H659Q probably benign Het
Itga2 T C 13: 114,990,435 (GRCm39) Q902R probably benign Het
Itgb2l T C 16: 96,235,901 (GRCm39) K181E possibly damaging Het
Jak3 A T 8: 72,135,041 (GRCm39) H558L probably damaging Het
Klhl6 GT G 16: 19,775,716 (GRCm39) 279 probably null Het
Krt33a C T 11: 99,903,155 (GRCm39) probably benign Het
Magi2 A T 5: 20,866,357 (GRCm39) probably benign Het
Map4 G A 9: 109,868,918 (GRCm39) probably benign Het
Map4k4 T A 1: 40,045,982 (GRCm39) S754T probably damaging Het
Mapk8ip3 A G 17: 25,133,424 (GRCm39) probably benign Het
Mib1 A G 18: 10,804,773 (GRCm39) S918G probably benign Het
Mipol1 T A 12: 57,503,963 (GRCm39) V377D probably damaging Het
Mlh1 T C 9: 111,070,624 (GRCm39) T364A probably benign Het
Mta1 C T 12: 113,094,941 (GRCm39) Q400* probably null Het
Mthfd1l C G 10: 4,040,006 (GRCm39) R806G probably benign Het
Myh13 C A 11: 67,239,641 (GRCm39) N730K probably damaging Het
Myom1 A G 17: 71,391,301 (GRCm39) K937E probably damaging Het
Naxd T C 8: 11,560,224 (GRCm39) probably benign Het
Negr1 G T 3: 156,721,904 (GRCm39) K159N probably damaging Het
Nwd2 G T 5: 63,963,686 (GRCm39) W1090L probably damaging Het
Or1e1f T C 11: 73,855,706 (GRCm39) S91P probably benign Het
Or2j3 A G 17: 38,615,549 (GRCm39) S268P probably damaging Het
Or51v14 C T 7: 103,261,204 (GRCm39) A119T probably benign Het
Or52r1c T C 7: 102,734,797 (GRCm39) I19T probably damaging Het
Or5d41 A T 2: 88,054,499 (GRCm39) Y292* probably null Het
Pcsk6 G A 7: 65,576,997 (GRCm39) S58N probably benign Het
Pdzrn3 G A 6: 101,127,531 (GRCm39) T1045I possibly damaging Het
Pitrm1 T C 13: 6,618,750 (GRCm39) L641P probably damaging Het
Pkd1l1 G T 11: 8,879,430 (GRCm39) H474N probably damaging Het
Pltp A G 2: 164,694,381 (GRCm39) probably benign Het
Qtrt1 C T 9: 21,330,844 (GRCm39) T324M probably benign Het
Racgap1 A T 15: 99,537,713 (GRCm39) probably benign Het
Rhbg A G 3: 88,161,805 (GRCm39) V50A probably benign Het
Rnf135 G A 11: 80,074,776 (GRCm39) V12M probably damaging Het
Rnf7l G T 10: 63,257,381 (GRCm39) C46* probably null Het
Rufy2 T C 10: 62,828,949 (GRCm39) V117A probably damaging Het
Safb A G 17: 56,912,630 (GRCm39) M866V probably benign Het
Slc35c2 G T 2: 165,122,735 (GRCm39) T183K probably damaging Het
Slc39a7 A G 17: 34,248,512 (GRCm39) L377P probably damaging Het
Slit1 G A 19: 41,596,750 (GRCm39) probably benign Het
Spaca9 G A 2: 28,583,022 (GRCm39) H133Y probably damaging Het
Spout1 A G 2: 30,064,983 (GRCm39) F339S probably benign Het
St6gal2 A G 17: 55,789,015 (GRCm39) I16M probably damaging Het
Stat2 T C 10: 128,112,378 (GRCm39) M6T probably benign Het
Swt1 T A 1: 151,287,021 (GRCm39) H157L probably benign Het
Syne2 A G 12: 76,085,714 (GRCm39) N147D possibly damaging Het
Tmem222 A T 4: 133,004,902 (GRCm39) M45K possibly damaging Het
Tmem30a T A 9: 79,684,567 (GRCm39) H95L probably damaging Het
Tns3 A C 11: 8,497,262 (GRCm39) probably benign Het
Trpm3 A G 19: 22,676,142 (GRCm39) I103V probably benign Het
Ube2n T C 10: 95,377,206 (GRCm39) F57S probably benign Het
Vil1 T C 1: 74,460,499 (GRCm39) S219P possibly damaging Het
Wdfy4 A G 14: 32,862,695 (GRCm39) probably benign Het
Wdr7 T C 18: 63,924,914 (GRCm39) S966P probably benign Het
Wnt8a A G 18: 34,677,900 (GRCm39) N103D probably damaging Het
Zfp523 G A 17: 28,419,419 (GRCm39) E186K possibly damaging Het
Zfp791 A T 8: 85,836,609 (GRCm39) D418E probably benign Het
Zscan20 A G 4: 128,485,682 (GRCm39) V192A 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
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
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'- ACTGACTTGGGACAGGCTGATAGG -3'
(R):5'- GCTGGAATGAACACAAATCAGGCAC -3'

Sequencing Primer
(F):5'- aattccccaccctttatcctc -3'
(R):5'- ACAAATCAGGCACCGAGC -3'
Posted On 2013-05-29