Incidental Mutation 'R7228:Kcnh8'
ID 562314
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 045300-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7228 (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 53263744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 747 (T747I)
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: T747I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000049206
Gene: ENSMUSG00000035580
AA Change: T747I

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: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,247,653 (GRCm39) F2467I probably benign Het
Acod1 A G 14: 103,286,765 (GRCm39) T23A probably benign Het
Adam2 T A 14: 66,291,361 (GRCm39) K306* probably null Het
Adcy10 A C 1: 165,337,841 (GRCm39) I152L probably damaging Het
Amigo1 T C 3: 108,094,546 (GRCm39) L15P probably benign Het
Aqp2 A G 15: 99,480,005 (GRCm39) N156S probably benign Het
AU041133 A G 10: 81,987,105 (GRCm39) K253E possibly damaging Het
Cacna1s A G 1: 135,998,797 (GRCm39) T231A possibly damaging Het
Carf A T 1: 60,148,553 (GRCm39) N83I probably damaging Het
Ccdc121rt1 T C 1: 181,338,532 (GRCm39) K140R probably benign Het
Cdc42bpb C T 12: 111,271,527 (GRCm39) V1111M possibly damaging Het
Cep78 A G 19: 15,946,561 (GRCm39) S424P probably benign Het
Cfap74 G A 4: 155,549,507 (GRCm39) V123M unknown Het
Crot T A 5: 9,026,051 (GRCm39) N312I probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Cyp4f39 A G 17: 32,710,803 (GRCm39) D454G probably damaging Het
Dnaja4 A T 9: 54,621,569 (GRCm39) H298L possibly damaging Het
Eif2ak4 C T 2: 118,287,638 (GRCm39) T1081M probably damaging Het
Eif3j2 T C 18: 43,610,574 (GRCm39) K80E probably damaging Het
Elp4 T A 2: 105,622,647 (GRCm39) I351F probably damaging Het
Fbxw26 C G 9: 109,554,012 (GRCm39) G209A possibly damaging Het
Fsip2 T A 2: 82,822,651 (GRCm39) V6128D possibly damaging Het
Gli3 A G 13: 15,899,087 (GRCm39) T825A probably benign Het
Gm2042 A G 12: 87,924,719 (GRCm39) E60G probably benign Het
Gm26566 G T 4: 88,640,542 (GRCm39) R111L unknown Het
Gm3138 C A 14: 15,632,269 (GRCm39) H147Q probably damaging Het
Gucy1b1 T A 3: 81,940,581 (GRCm39) N615I unknown Het
Ighv14-1 A T 12: 113,895,981 (GRCm39) F8I not run Het
Kctd1 T A 18: 15,195,469 (GRCm39) S385C possibly damaging Het
Lmo7 T A 14: 102,133,971 (GRCm39) M672K probably damaging Het
Lrrc69 T A 4: 14,775,027 (GRCm39) K80N probably damaging Het
Map2k5 C T 9: 63,265,304 (GRCm39) D75N probably damaging Het
Matr3 T C 18: 35,695,537 (GRCm39) V4A unknown Het
Megf10 T C 18: 57,322,661 (GRCm39) C69R probably damaging Het
Mettl1 A G 10: 126,881,152 (GRCm39) E221G probably benign Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mlh3 A T 12: 85,282,430 (GRCm39) L1401Q probably benign Het
Nacad T C 11: 6,548,412 (GRCm39) I1412V probably benign Het
Nkain4 A T 2: 180,596,362 (GRCm39) probably null Het
Notch2 T A 3: 98,044,633 (GRCm39) C1518* probably null Het
Npw A G 17: 24,877,065 (GRCm39) V112A probably benign Het
Or10a5 A T 7: 106,636,307 (GRCm39) H315L probably benign Het
Or2v1 T A 11: 49,025,706 (GRCm39) M229K possibly damaging Het
Pdzd2 T C 15: 12,373,059 (GRCm39) T2359A probably benign Het
Pdzd2 T A 15: 12,458,231 (GRCm39) K37* probably null Het
Phkb T G 8: 86,569,636 (GRCm39) probably benign Het
Pou2af2 T C 9: 51,202,956 (GRCm39) D66G probably damaging Het
Prrc2b C A 2: 32,104,318 (GRCm39) Y1265* probably null Het
Rab31 T A 17: 66,024,548 (GRCm39) M44L probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Rapgef2 T C 3: 78,976,525 (GRCm39) D1279G probably benign Het
Rbm46 T C 3: 82,749,840 (GRCm39) D468G probably benign Het
Ryr3 T C 2: 112,692,197 (GRCm39) E1059G probably damaging Het
Sez6l2 T C 7: 126,552,897 (GRCm39) L221P probably damaging Het
Slit3 T A 11: 35,490,245 (GRCm39) V361E probably damaging Het
Soat1 G A 1: 156,261,808 (GRCm39) S400F probably damaging Het
Spp1 T C 5: 104,588,311 (GRCm39) S238P probably damaging Het
Tdpoz8 T A 3: 92,980,993 (GRCm39) C4S possibly damaging Het
Tfap2c T C 2: 172,393,492 (GRCm39) S136P probably benign Het
Tgfbr2 T C 9: 115,939,011 (GRCm39) E297G probably damaging Het
Trim2 T C 3: 84,099,488 (GRCm39) D228G probably benign Het
Wdr82 C A 9: 106,053,871 (GRCm39) A74E probably benign Het
Zfp451 T C 1: 33,842,475 (GRCm39) T136A 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
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
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'- CTCTTGGGAAGTCTTGGCAAC -3'
(R):5'- CTTGGACTAAGCTCTGGGGTTC -3'

Sequencing Primer
(F):5'- ATCTGTCCTATTCACTATCTAGGCAG -3'
(R):5'- TTCCAGCACTACCCAGGCTG -3'
Posted On 2019-06-26