Incidental Mutation 'R6567:Kcnh1'
ID 522721
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 044691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R6567 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 191873082-192192467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 191959412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 322 (M322K)
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: M322K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: M322K

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 benign
Transcript: ENSMUST00000110844
SMART Domains Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248

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: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,950 (GRCm39) T546A probably benign Het
Ahnak G T 19: 8,986,170 (GRCm39) V2485L probably benign Het
C2cd5 T C 6: 142,976,974 (GRCm39) I722M possibly damaging Het
Clca4b A G 3: 144,638,100 (GRCm39) I54T possibly damaging Het
Dennd2c C T 3: 103,039,335 (GRCm39) A161V probably benign Het
Dmxl1 T C 18: 49,992,246 (GRCm39) Y331H probably damaging Het
Dnaaf11 C T 15: 66,310,228 (GRCm39) V347I probably benign Het
Dnajc2 G A 5: 21,971,676 (GRCm39) R247W probably damaging Het
Dock3 T C 9: 106,773,946 (GRCm39) T380A probably benign Het
Evc2 T C 5: 37,576,508 (GRCm39) V1044A probably benign Het
Ints2 T C 11: 86,117,487 (GRCm39) H745R probably benign Het
Mmp19 A G 10: 128,632,275 (GRCm39) T191A probably benign Het
Mms19 A G 19: 41,938,206 (GRCm39) probably null Het
Mtcl3 G T 10: 29,023,279 (GRCm39) V209F probably benign Het
Ncapd3 T C 9: 26,978,300 (GRCm39) I833T possibly damaging Het
Nif3l1 T A 1: 58,494,789 (GRCm39) C253S probably benign Het
Or52e2 A T 7: 102,804,135 (GRCm39) I273K possibly damaging Het
Pate5 T A 9: 35,750,411 (GRCm39) Y87F probably benign Het
Pcsk1 T A 13: 75,278,189 (GRCm39) I584N probably damaging Het
Pms2 T C 5: 143,865,786 (GRCm39) V50A probably damaging Het
Rptor A G 11: 119,786,838 (GRCm39) I1268V probably benign Het
Scap C T 9: 110,212,630 (GRCm39) R1021W probably damaging Het
Sos1 A T 17: 80,740,932 (GRCm39) Y618N probably damaging Het
Tesk2 C T 4: 116,649,361 (GRCm39) A157V probably damaging Het
Tm6sf2 C A 8: 70,528,174 (GRCm39) H108N probably damaging Het
Trank1 T C 9: 111,176,589 (GRCm39) V287A probably benign Het
Tsks A T 7: 44,603,305 (GRCm39) Q369L probably damaging Het
Vmn2r58 T C 7: 41,514,673 (GRCm39) T99A probably benign Het
Wbp11 C T 6: 136,797,537 (GRCm39) S294N probably benign Het
Zfp608 T C 18: 55,030,628 (GRCm39) Y1104C probably damaging Het
Zfp759 T A 13: 67,287,150 (GRCm39) S234T probably benign 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
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
R7199:Kcnh1 UTSW 1 192,019,913 (GRCm39) missense probably benign 0.01
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'- ACAGCATCGTGGATGTCATC -3'
(R):5'- ATACCCATGGTGCATGCTCC -3'

Sequencing Primer
(F):5'- ACAGCATCGTGGATGTCATCTTTTTG -3'
(R):5'- ATGGTGCATGCTCCCTCTG -3'
Posted On 2018-06-06