Incidental Mutation 'R2016:Kcnh8'
ID 223113
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 040025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2016 (G1)
Quality Score 184
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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abca8a A G 11: 109,961,213 (GRCm39) F570L probably damaging Het
Adck1 T A 12: 88,427,862 (GRCm39) I493N probably damaging Het
Adra2c T C 5: 35,437,656 (GRCm39) C143R probably damaging Het
Afg2a T C 3: 37,632,911 (GRCm39) V839A possibly damaging Het
Akap13 C T 7: 75,354,279 (GRCm39) T1800M probably damaging Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcam G A 7: 19,494,274 (GRCm39) T374M probably benign Het
Blm T C 7: 80,155,674 (GRCm39) D335G probably benign Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Col4a2 T C 8: 11,495,086 (GRCm39) F1515L probably benign Het
Csf2ra T G 19: 61,215,331 (GRCm39) M95L probably benign Het
Cyp2c70 T A 19: 40,152,856 (GRCm39) T300S possibly damaging Het
Cyp4f15 A T 17: 32,921,133 (GRCm39) H440L probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Ddr2 T C 1: 169,812,537 (GRCm39) M652V probably damaging Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Efl1 A C 7: 82,402,917 (GRCm39) D673A probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Erap1 T C 13: 74,812,270 (GRCm39) W362R probably damaging Het
Fam234a A G 17: 26,437,290 (GRCm39) F91L probably benign Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Garin5b A T 7: 4,762,397 (GRCm39) I244N probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnl3 A G 14: 30,738,326 (GRCm39) probably null Het
Has1 A T 17: 18,068,532 (GRCm39) I274N probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Itsn1 T C 16: 91,702,389 (GRCm39) probably null Het
Kif13a T C 13: 46,964,275 (GRCm39) D475G probably benign Het
Klhl20 A T 1: 160,930,608 (GRCm39) M298K probably damaging Het
Kynu G T 2: 43,494,289 (GRCm39) G241* probably null Het
Lrif1 G T 3: 106,639,522 (GRCm39) L202F possibly damaging Het
Lrp5 T C 19: 3,660,056 (GRCm39) K1003E probably benign Het
Mamdc2 T C 19: 23,311,393 (GRCm39) D487G probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Mettl25 T A 10: 105,633,167 (GRCm39) E425D probably benign Het
Midn G T 10: 79,985,949 (GRCm39) R13L possibly damaging Het
Mtmr9 T C 14: 63,777,713 (GRCm39) Y136C possibly damaging Het
Mylk G A 16: 34,817,187 (GRCm39) V61M probably damaging Het
Nalcn T C 14: 123,831,993 (GRCm39) probably null Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Nr4a3 G A 4: 48,083,252 (GRCm39) C595Y probably damaging Het
Or10d4 A G 9: 39,580,851 (GRCm39) Y166C probably damaging Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or4l15 A G 14: 50,197,959 (GRCm39) I190T probably benign Het
Or5w1b C T 2: 87,476,396 (GRCm39) V24M probably benign Het
Or8b1 A T 9: 38,399,309 (GRCm39) probably null Het
Pds5a T A 5: 65,805,350 (GRCm39) probably null Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Plcl2 G A 17: 50,913,722 (GRCm39) V244M probably damaging Het
Plk1 A G 7: 121,761,663 (GRCm39) K257R probably damaging Het
Prkcg A T 7: 3,372,066 (GRCm39) T460S probably damaging Het
Prl7d1 G A 13: 27,894,156 (GRCm39) H138Y probably damaging Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Pwwp2b A T 7: 138,836,067 (GRCm39) I503F possibly damaging Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Sall1 A G 8: 89,755,037 (GRCm39) V1314A probably benign Het
Sema6c A G 3: 95,078,545 (GRCm39) I549V probably benign Het
Slc17a1 A G 13: 24,062,522 (GRCm39) S230G probably benign Het
Slc5a4a T G 10: 75,989,414 (GRCm39) F106V probably benign Het
Stat6 T C 10: 127,486,665 (GRCm39) L147P probably damaging Het
Taar7d T A 10: 23,903,642 (GRCm39) S175T probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tmem132b A G 5: 125,700,080 (GRCm39) Q206R probably benign Het
Tmem229a T C 6: 24,955,061 (GRCm39) D231G probably benign Het
Trim66 A G 7: 109,071,439 (GRCm39) probably null Het
Ttll9 A T 2: 152,844,214 (GRCm39) E374V probably damaging Het
Vmn2r69 A T 7: 85,056,493 (GRCm39) D548E probably damaging Het
Zcchc2 T A 1: 105,931,851 (GRCm39) probably null Het
Zfp282 T A 6: 47,874,721 (GRCm39) probably null Het
Zfp352 A G 4: 90,113,408 (GRCm39) E516G 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
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 2014-08-25