Incidental Mutation 'R0971:Kcnh8'
ID 81519
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 039100-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0971 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 52909737-53286222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53032927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 71 (F71L)
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: F71L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: F71L

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: 99.2%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.5%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 G A 7: 80,742,327 (GRCm39) E715K possibly damaging Het
Cbr2 T A 11: 120,621,259 (GRCm39) I147F probably benign Het
Chdh A G 14: 29,755,620 (GRCm39) N302S probably damaging Het
Cog5 T A 12: 31,969,677 (GRCm39) H732Q probably benign Het
Glyr1 GCTGCC G 16: 4,839,209 (GRCm39) probably null Het
Itln1 C A 1: 171,356,772 (GRCm39) V236F probably damaging Het
Itpr1 A G 6: 108,326,590 (GRCm39) E104G possibly damaging Het
Kif14 T C 1: 136,447,392 (GRCm39) M1399T probably damaging Het
Kif21a A G 15: 90,824,784 (GRCm39) V1324A possibly damaging Het
Klhdc7b A T 15: 89,271,257 (GRCm39) H713L possibly damaging Het
Opn5 C T 17: 42,922,218 (GRCm39) probably null Het
Poteg A T 8: 27,937,967 (GRCm39) Y41F probably damaging Het
Prb1b T A 6: 132,290,618 (GRCm39) D27V unknown Het
Psd2 C A 18: 36,112,839 (GRCm39) T178K probably damaging Het
Ptch1 T C 13: 63,687,657 (GRCm39) T374A probably benign Het
Rgma T C 7: 73,041,246 (GRCm39) probably null Het
Tmem120a A G 5: 135,764,958 (GRCm39) L272P probably damaging Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Vmn1r40 A T 6: 89,691,272 (GRCm39) I30F probably benign Het
Vps33b A G 7: 79,937,647 (GRCm39) D465G possibly damaging Het
Zan G A 5: 137,432,325 (GRCm39) A2324V unknown 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
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 2013-11-07