Incidental Mutation 'R9211:Kcnh8'
ID 698908
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9211 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 52909737-53286222 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53146236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 375 (Y375N)
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: Y375N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: Y375N

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 0.9592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (86/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,099,161 (GRCm39) D85Y possibly damaging Het
Accs T C 2: 93,668,614 (GRCm39) R315G probably damaging Het
Adam3 A C 8: 25,177,910 (GRCm39) W668G probably benign Het
Adgrb2 T A 4: 129,886,199 (GRCm39) V113E probably benign Het
Anapc4 C T 5: 53,007,994 (GRCm39) T391I possibly damaging Het
Angpt2 C T 8: 18,748,078 (GRCm39) G394D probably benign Het
Ankrd31 C G 13: 97,029,551 (GRCm39) L1662V possibly damaging Het
Ankrd36 A G 11: 5,612,370 (GRCm39) D1234G possibly damaging Het
Ankrd6 C T 4: 32,806,580 (GRCm39) V558M probably damaging Het
Ankrd61 T A 5: 143,828,358 (GRCm39) M206L probably benign Het
Arhgap33 C T 7: 30,223,023 (GRCm39) G970R possibly damaging Het
Atf7 A G 15: 102,437,117 (GRCm39) V115A unknown Het
Atp2c2 A T 8: 120,446,032 (GRCm39) R65S probably benign Het
Atp8b5 T A 4: 43,367,960 (GRCm39) M861K probably damaging Het
Bmi1 T C 2: 18,689,152 (GRCm39) S279P probably benign Het
Bptf T G 11: 106,946,124 (GRCm39) S2372R probably damaging Het
Cacnb2 A T 2: 14,879,308 (GRCm39) I15L unknown Het
Card11 A G 5: 140,869,375 (GRCm39) M807T probably benign Het
Ccdc175 A T 12: 72,153,458 (GRCm39) D704E probably damaging Het
Cd300ld T A 11: 114,878,386 (GRCm39) Y42F probably damaging Het
Cdh1 A T 8: 107,390,962 (GRCm39) T693S probably benign Het
Clca4b T C 3: 144,638,214 (GRCm39) Y16C possibly damaging Het
Col4a4 A G 1: 82,506,501 (GRCm39) I273T unknown Het
Coro2b C A 9: 62,427,662 (GRCm39) V9L probably benign Het
Crnkl1 T C 2: 145,774,773 (GRCm39) D55G probably damaging Het
Dcps T A 9: 35,035,872 (GRCm39) N338I probably damaging Het
Dusp2 A T 2: 127,179,311 (GRCm39) H222L probably benign Het
Dync1li1 C A 9: 114,518,012 (GRCm39) Y21* probably null Het
Efhb T G 17: 53,756,507 (GRCm39) Q381H probably damaging Het
Elac2 A T 11: 64,869,864 (GRCm39) probably benign Het
Etaa1 A G 11: 17,896,053 (GRCm39) V688A possibly damaging Het
Fam120c C T X: 150,127,495 (GRCm39) H84Y probably benign Het
Fbxl7 T A 15: 26,789,616 (GRCm39) N37I probably damaging Het
Fndc3b A T 3: 27,523,086 (GRCm39) W498R probably damaging Het
Galc G A 12: 98,173,699 (GRCm39) A621V probably benign Het
Gch1 A T 14: 47,426,519 (GRCm39) I69N probably damaging Het
Gdpd4 T C 7: 97,615,466 (GRCm39) V97A possibly damaging Het
Hirip3 C T 7: 126,463,567 (GRCm39) R485* probably null Het
Hmgcs2 C T 3: 98,204,748 (GRCm39) T302I possibly damaging Het
Ing5 A T 1: 93,740,409 (GRCm39) K137I possibly damaging Het
Kdm3a C A 6: 71,573,674 (GRCm39) W963L probably benign Het
Klra17 T G 6: 129,842,651 (GRCm39) I216L possibly damaging Het
Kmt2e A G 5: 23,669,770 (GRCm39) K86E possibly damaging Het
Krt42 T C 11: 100,155,867 (GRCm39) N293S possibly damaging Het
Lrrc8d T A 5: 105,960,216 (GRCm39) W209R probably damaging Het
Mettl23 C T 11: 116,734,469 (GRCm39) P13S unknown Het
Ncln T C 10: 81,323,527 (GRCm39) Y540C probably damaging Het
Neb C G 2: 52,135,360 (GRCm39) G3250A probably damaging Het
Nebl A G 2: 17,393,501 (GRCm39) probably null Het
Nqo2 A T 13: 34,156,399 (GRCm39) T38S probably benign Het
Obscn A T 11: 59,026,693 (GRCm39) I170N probably benign Het
Or2bd2 G T 7: 6,443,417 (GRCm39) G173W probably damaging Het
Or4c100 A G 2: 88,356,170 (GRCm39) D81G probably benign Het
Or5af2 A T 11: 58,708,709 (GRCm39) N292Y probably damaging Het
Or5p6 C T 7: 107,630,798 (GRCm39) V251I probably damaging Het
Or7g28 T A 9: 19,271,824 (GRCm39) I276F possibly damaging Het
Or8k38 A T 2: 86,488,024 (GRCm39) Y259* probably null Het
Pacs1 A T 19: 5,189,057 (GRCm39) V775E probably damaging Het
Pheta2 A T 15: 82,225,227 (GRCm39) probably benign Het
Pmfbp1 T C 8: 110,262,445 (GRCm39) I713T probably benign Het
Pnma8b A G 7: 16,679,589 (GRCm39) D191G unknown Het
Polr1a T C 6: 71,943,521 (GRCm39) I1252T probably damaging Het
Prss16 A T 13: 22,192,754 (GRCm39) M110K probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Rab5b C A 10: 128,519,063 (GRCm39) probably null Het
Reln G T 5: 22,549,200 (GRCm39) Y69* probably null Het
Rgs12 T A 5: 35,123,165 (GRCm39) M316K probably damaging Het
Rmi2 T C 16: 10,657,743 (GRCm39) C118R possibly damaging Het
Rnf223 T A 4: 156,216,834 (GRCm39) C70S probably damaging Het
Rxrb T A 17: 34,255,626 (GRCm39) F371Y probably damaging Het
Smurf2 T A 11: 106,759,463 (GRCm39) S78C probably damaging Het
Sorbs1 A T 19: 40,332,798 (GRCm39) probably null Het
Spag17 C T 3: 100,032,614 (GRCm39) probably benign Het
Spidr T C 16: 15,871,319 (GRCm39) H217R probably benign Het
Tiam2 T G 17: 3,498,729 (GRCm39) V835G possibly damaging Het
Tm2d2 C T 8: 25,510,548 (GRCm39) R136* probably null Het
Tnks C T 8: 35,316,489 (GRCm39) D877N probably damaging Het
Tns1 A G 1: 73,956,948 (GRCm39) L491P possibly damaging Het
Trps1 A G 15: 50,694,840 (GRCm39) I485T probably damaging Het
Tubgcp5 A G 7: 55,456,331 (GRCm39) S308G probably benign Het
Ugt8a T C 3: 125,661,130 (GRCm39) H454R probably damaging Het
Usp32 G T 11: 84,913,559 (GRCm39) T924K probably damaging Het
Vmn2r91 A T 17: 18,356,819 (GRCm39) K829* probably null Het
Zfc3h1 T C 10: 115,248,328 (GRCm39) F1146L possibly damaging Het
Zfp729a G T 13: 67,767,820 (GRCm39) A803E probably benign Het
Zfp990 A G 4: 145,264,171 (GRCm39) T390A 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
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
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'- CTGTGGATGTGGCTTCCAAG -3'
(R):5'- GTACACAGATGAGAATTGCCTATG -3'

Sequencing Primer
(F):5'- TCCAAGCTGTGTTGCTCTG -3'
(R):5'- CACAGATGAGAATTGCCTATGTAATG -3'
Posted On 2022-02-07