Incidental Mutation 'R7199:Kcnh1'
ID 560126
Institutional Source Beutler Lab
Gene Symbol Kcnh1
Ensembl Gene ENSMUSG00000058248
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 1
Synonyms ether a go-go, Eag1, Kv10.1
MMRRC Submission 045277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R7199 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 191873082-192192467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 192019913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 413 (I413N)
Ref Sequence ENSEMBL: ENSMUSP00000077563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078470] [ENSMUST00000110844]
AlphaFold no structure available at present
PDB Structure Cyclic nucleotide binding-homology domain from mouse EAG1 potassium channel [X-RAY DIFFRACTION]
Crystal structure of PAS domain from the mouse EAG1 potassium channel [X-RAY DIFFRACTION]
Structure of the eag domain-CNBHD complex of the mouse EAG1 channel [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000078470
AA Change: I413N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: I413N

DomainStartEndE-ValueType
PAS 16 92 2.65e0 SMART
PAC 94 136 3.67e-9 SMART
Pfam:Ion_trans 217 510 2.2e-40 PFAM
Pfam:Ion_trans_2 422 504 7e-14 PFAM
cNMP 581 699 2.2e-21 SMART
low complexity region 714 726 N/A INTRINSIC
coiled coil region 928 958 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110844
AA Change: I386N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: I386N

DomainStartEndE-ValueType
PAS 16 92 2.65e0 SMART
PAC 94 136 3.67e-9 SMART
transmembrane domain 219 241 N/A INTRINSIC
Pfam:Ion_trans 252 471 3.4e-27 PFAM
Pfam:Ion_trans_2 395 477 3.7e-14 PFAM
cNMP 554 672 2.2e-21 SMART
low complexity region 687 699 N/A INTRINSIC
coiled coil region 901 931 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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 of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit a decreased depressive-like response during tail suspension testing. Mice homozygous for a different knock-out allele exhibit longer latency to move in haloperidol-treated mice and mild hyperactivity. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,555,902 (GRCm39) T39A probably damaging Het
Abca3 G A 17: 24,596,681 (GRCm39) G378D probably damaging Het
Abtb2 T C 2: 103,397,565 (GRCm39) V165A possibly damaging Het
Ache A G 5: 137,288,504 (GRCm39) E70G probably damaging Het
Adamtsl4 T C 3: 95,588,119 (GRCm39) T623A probably benign Het
Ahdc1 G A 4: 132,791,935 (GRCm39) V1059I probably benign Het
Ajuba G A 14: 54,810,915 (GRCm39) Q357* probably null Het
Ano7 A T 1: 93,330,700 (GRCm39) D54V Het
Apob A T 12: 8,055,072 (GRCm39) D1357V probably damaging Het
Atad2b T A 12: 5,067,992 (GRCm39) Y997N probably damaging Het
Bhlhe22 C A 3: 18,110,006 (GRCm39) T352K probably damaging Het
Bsn T C 9: 107,992,533 (GRCm39) E1073G probably damaging Het
Bzw2 G A 12: 36,180,054 (GRCm39) R58* probably null Het
C7 G T 15: 5,023,725 (GRCm39) S694R probably benign Het
Cbr2 T A 11: 120,621,087 (GRCm39) H170L probably benign Het
Cdcp3 G A 7: 130,837,641 (GRCm39) W512* probably null Het
Cgas C A 9: 78,340,315 (GRCm39) K472N probably benign Het
Ckap2l T C 2: 129,126,975 (GRCm39) N401S probably benign Het
Cldn1 A G 16: 26,190,346 (GRCm39) F11L probably benign Het
Cmtr1 A G 17: 29,895,174 (GRCm39) T118A probably benign Het
Cog6 T C 3: 52,890,610 (GRCm39) E610G probably benign Het
Col3a1 G T 1: 45,371,301 (GRCm39) A451S probably null Het
Cr1l T A 1: 194,799,878 (GRCm39) R265S probably benign Het
Dapk1 T C 13: 60,902,024 (GRCm39) I951T probably benign Het
Dnah9 T C 11: 66,009,770 (GRCm39) N706D probably benign Het
Dpysl5 A T 5: 30,940,539 (GRCm39) T239S probably benign Het
Ect2l T A 10: 18,004,894 (GRCm39) Y913F probably benign Het
Elf5 C A 2: 103,269,641 (GRCm39) A74D possibly damaging Het
Erap1 T C 13: 74,814,258 (GRCm39) V399A probably benign Het
Ercc4 A G 16: 12,965,657 (GRCm39) D763G probably damaging Het
Fam222b T A 11: 78,045,683 (GRCm39) C415S possibly damaging Het
Fat4 A C 3: 39,031,511 (GRCm39) N2432T probably damaging Het
Fbn2 G T 18: 58,186,833 (GRCm39) C1689* probably null Het
Frrs1l T A 4: 56,972,282 (GRCm39) T140S probably damaging Het
Gm5141 A T 13: 62,924,877 (GRCm39) H10Q possibly damaging Het
Inafm1 A T 7: 16,007,079 (GRCm39) L46Q probably damaging Het
Irak2 T C 6: 113,650,045 (GRCm39) L260P probably damaging Het
Kat2b T C 17: 53,977,706 (GRCm39) L751P probably damaging Het
Kirrel1 T C 3: 86,990,695 (GRCm39) D709G probably benign Het
Lama4 T C 10: 38,956,536 (GRCm39) V1153A possibly damaging Het
Lipg A T 18: 75,088,655 (GRCm39) F98L probably benign Het
Lman1 T C 18: 66,127,936 (GRCm39) E236G probably damaging Het
Lrp1 T A 10: 127,409,325 (GRCm39) D1598V probably damaging Het
Lrrc71 T A 3: 87,650,384 (GRCm39) N230Y probably damaging Het
Maneal T C 4: 124,750,983 (GRCm39) S258G possibly damaging Het
Marchf10 T A 11: 105,281,532 (GRCm39) E251V probably damaging Het
Mpdz A G 4: 81,215,570 (GRCm39) I1484T probably damaging Het
Mtcl1 T A 17: 66,647,534 (GRCm39) N1882I probably benign Het
Neb G A 2: 52,110,212 (GRCm39) A212V probably benign Het
Obscn G A 11: 58,903,672 (GRCm39) S7434L probably benign Het
Or14j8 A C 17: 38,263,048 (GRCm39) I289S probably damaging Het
Or1ad8 T A 11: 50,898,223 (GRCm39) C141* probably null Het
Or1j12 A T 2: 36,342,872 (GRCm39) I92F probably damaging Het
Or4k47 T C 2: 111,451,538 (GRCm39) M294V probably benign Het
Or8g2b A G 9: 39,750,753 (GRCm39) M8V probably benign Het
Orc6 T C 8: 86,029,590 (GRCm39) probably null Het
Otogl T G 10: 107,710,394 (GRCm39) E565A possibly damaging Het
Papss1 A G 3: 131,290,899 (GRCm39) Q214R probably benign Het
Pck2 G A 14: 55,786,169 (GRCm39) V653M probably benign Het
Plxna4 G A 6: 32,192,113 (GRCm39) Q826* probably null Het
Pms1 T A 1: 53,295,889 (GRCm39) T161S probably benign Het
Prkar2a C A 9: 108,617,669 (GRCm39) N242K probably damaging Het
Prss1 T A 6: 41,439,690 (GRCm39) I141N probably damaging Het
Puf60 A G 15: 75,943,717 (GRCm39) V235A probably damaging Het
Rapgef6 T A 11: 54,437,252 (GRCm39) F65Y probably benign Het
Rasgef1b T C 5: 99,447,898 (GRCm39) E104G unknown Het
Rcn3 T C 7: 44,734,333 (GRCm39) Y225C probably damaging Het
Rhot1 G C 11: 80,137,560 (GRCm39) W354S probably damaging Het
Rp1 T C 1: 4,417,513 (GRCm39) S1200G possibly damaging Het
Scaper T A 9: 55,745,460 (GRCm39) K603* probably null Het
Selenbp1 G A 3: 94,851,745 (GRCm39) V429I possibly damaging Het
Setd5 T G 6: 113,098,099 (GRCm39) S713A probably benign Het
Shank1 T C 7: 44,002,564 (GRCm39) Y1428H possibly damaging Het
Slc11a1 G T 1: 74,422,830 (GRCm39) W361L possibly damaging Het
Spta1 A T 1: 174,050,837 (GRCm39) D1772V possibly damaging Het
St8sia6 T C 2: 13,661,721 (GRCm39) H370R probably damaging Het
Stkld1 A T 2: 26,842,726 (GRCm39) D566V probably damaging Het
Tango6 T C 8: 107,415,791 (GRCm39) V204A probably benign Het
Tdrd5 G A 1: 156,129,293 (GRCm39) A139V probably damaging Het
Tenm2 A T 11: 36,062,263 (GRCm39) V534E probably damaging Het
Tfip11 A T 5: 112,479,044 (GRCm39) Q204L probably benign Het
Tlr4 A T 4: 66,759,430 (GRCm39) Q741L probably damaging Het
Tmem18 A G 12: 30,638,654 (GRCm39) M111V probably benign Het
Togaram1 A G 12: 65,042,292 (GRCm39) N1167S probably benign Het
Trappc3 C T 4: 126,168,945 (GRCm39) A145V possibly damaging Het
Trbj2-3 T C 6: 41,520,176 (GRCm39) F7S probably damaging Het
Vinac1 A G 2: 128,880,238 (GRCm39) S563P Het
Vmn1r212 T A 13: 23,067,731 (GRCm39) M201L probably benign Het
Xaf1 C A 11: 72,194,201 (GRCm39) C27* probably null Het
Zeb1 T C 18: 5,767,703 (GRCm39) V738A probably benign Het
Zfp524 A T 7: 5,020,883 (GRCm39) H137L probably damaging Het
Zfyve19 A T 2: 119,047,118 (GRCm39) H367L probably damaging Het
Zim1 G A 7: 6,680,872 (GRCm39) Q264* probably null Het
Other mutations in Kcnh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Kcnh1 APN 1 192,101,190 (GRCm39) missense probably damaging 0.99
IGL01675:Kcnh1 APN 1 192,019,901 (GRCm39) missense probably benign 0.09
IGL01726:Kcnh1 APN 1 192,188,164 (GRCm39) missense possibly damaging 0.47
IGL02006:Kcnh1 APN 1 191,873,323 (GRCm39) missense possibly damaging 0.75
IGL02428:Kcnh1 APN 1 192,019,851 (GRCm39) nonsense probably null
IGL02447:Kcnh1 APN 1 191,907,224 (GRCm39) missense possibly damaging 0.61
IGL02512:Kcnh1 APN 1 192,187,689 (GRCm39) missense possibly damaging 0.64
IGL02748:Kcnh1 APN 1 191,903,728 (GRCm39) missense probably damaging 1.00
IGL02879:Kcnh1 APN 1 191,959,223 (GRCm39) missense probably damaging 1.00
IGL02926:Kcnh1 APN 1 191,959,208 (GRCm39) missense probably damaging 1.00
IGL03058:Kcnh1 APN 1 192,117,199 (GRCm39) missense probably damaging 1.00
IGL03078:Kcnh1 APN 1 192,117,108 (GRCm39) missense probably damaging 1.00
IGL03148:Kcnh1 APN 1 191,959,307 (GRCm39) missense probably damaging 0.99
3-1:Kcnh1 UTSW 1 192,019,995 (GRCm39) nonsense probably null
PIT4449001:Kcnh1 UTSW 1 192,100,992 (GRCm39) missense probably damaging 1.00
R0226:Kcnh1 UTSW 1 191,959,113 (GRCm39) missense probably damaging 1.00
R0226:Kcnh1 UTSW 1 191,959,112 (GRCm39) nonsense probably null
R0240:Kcnh1 UTSW 1 192,187,648 (GRCm39) missense probably benign
R0240:Kcnh1 UTSW 1 192,187,648 (GRCm39) missense probably benign
R0422:Kcnh1 UTSW 1 192,019,888 (GRCm39) missense probably benign
R0510:Kcnh1 UTSW 1 192,101,249 (GRCm39) splice site probably benign
R0612:Kcnh1 UTSW 1 191,959,361 (GRCm39) missense probably damaging 1.00
R0667:Kcnh1 UTSW 1 192,188,346 (GRCm39) missense probably benign 0.00
R0838:Kcnh1 UTSW 1 192,095,514 (GRCm39) missense probably damaging 0.99
R1303:Kcnh1 UTSW 1 191,959,010 (GRCm39) missense probably damaging 1.00
R1389:Kcnh1 UTSW 1 192,188,071 (GRCm39) missense probably benign 0.00
R1826:Kcnh1 UTSW 1 192,095,376 (GRCm39) missense possibly damaging 0.64
R1997:Kcnh1 UTSW 1 191,959,243 (GRCm39) missense probably damaging 0.99
R2254:Kcnh1 UTSW 1 192,187,722 (GRCm39) splice site probably null
R2274:Kcnh1 UTSW 1 192,019,829 (GRCm39) missense probably damaging 1.00
R2275:Kcnh1 UTSW 1 192,019,829 (GRCm39) missense probably damaging 1.00
R3029:Kcnh1 UTSW 1 192,188,368 (GRCm39) missense probably benign 0.00
R3427:Kcnh1 UTSW 1 191,924,238 (GRCm39) missense probably benign 0.06
R3552:Kcnh1 UTSW 1 191,921,074 (GRCm39) missense probably damaging 1.00
R3718:Kcnh1 UTSW 1 191,921,107 (GRCm39) missense probably damaging 1.00
R3760:Kcnh1 UTSW 1 192,188,332 (GRCm39) missense probably damaging 1.00
R4009:Kcnh1 UTSW 1 191,959,448 (GRCm39) missense probably benign
R4027:Kcnh1 UTSW 1 191,959,007 (GRCm39) missense probably benign 0.05
R4453:Kcnh1 UTSW 1 192,187,825 (GRCm39) missense probably damaging 0.97
R4717:Kcnh1 UTSW 1 191,959,025 (GRCm39) missense probably damaging 0.99
R5014:Kcnh1 UTSW 1 191,959,388 (GRCm39) missense probably damaging 0.99
R5040:Kcnh1 UTSW 1 192,187,783 (GRCm39) missense probably benign 0.00
R5110:Kcnh1 UTSW 1 192,020,055 (GRCm39) missense possibly damaging 0.95
R5190:Kcnh1 UTSW 1 192,187,836 (GRCm39) missense probably benign 0.00
R5244:Kcnh1 UTSW 1 191,907,184 (GRCm39) missense probably benign 0.23
R5383:Kcnh1 UTSW 1 192,187,999 (GRCm39) missense probably benign 0.03
R5926:Kcnh1 UTSW 1 192,095,385 (GRCm39) missense probably benign 0.01
R6182:Kcnh1 UTSW 1 191,873,361 (GRCm39) missense probably damaging 0.97
R6516:Kcnh1 UTSW 1 192,101,089 (GRCm39) missense possibly damaging 0.50
R6567:Kcnh1 UTSW 1 191,959,412 (GRCm39) missense probably benign
R6655:Kcnh1 UTSW 1 192,095,391 (GRCm39) missense possibly damaging 0.89
R6715:Kcnh1 UTSW 1 192,019,949 (GRCm39) missense probably benign 0.00
R6823:Kcnh1 UTSW 1 192,187,597 (GRCm39) makesense probably null
R6972:Kcnh1 UTSW 1 191,959,144 (GRCm39) missense probably damaging 1.00
R7219:Kcnh1 UTSW 1 192,187,945 (GRCm39) missense probably benign
R7749:Kcnh1 UTSW 1 191,959,447 (GRCm39) missense probably benign
R7799:Kcnh1 UTSW 1 192,117,183 (GRCm39) missense probably damaging 0.96
R7862:Kcnh1 UTSW 1 191,873,167 (GRCm39) start gained probably benign
R8068:Kcnh1 UTSW 1 191,924,250 (GRCm39) missense probably benign 0.00
R8375:Kcnh1 UTSW 1 192,117,124 (GRCm39) missense probably damaging 1.00
R8694:Kcnh1 UTSW 1 191,921,031 (GRCm39) critical splice acceptor site probably benign
R8734:Kcnh1 UTSW 1 192,188,320 (GRCm39) missense possibly damaging 0.79
R8809:Kcnh1 UTSW 1 191,903,722 (GRCm39) missense probably damaging 1.00
R9007:Kcnh1 UTSW 1 192,188,055 (GRCm39) missense probably benign 0.01
R9218:Kcnh1 UTSW 1 192,135,938 (GRCm39) missense unknown
R9431:Kcnh1 UTSW 1 192,101,123 (GRCm39) missense probably benign 0.23
R9465:Kcnh1 UTSW 1 191,924,233 (GRCm39) missense probably damaging 0.96
Z1176:Kcnh1 UTSW 1 192,101,045 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTCTCTGAAAGTTGTGCGG -3'
(R):5'- ATGATGGCCACTGCGAAGATC -3'

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