Incidental Mutation 'R9007:Kcnh1'
ID 685341
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 068837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R9007 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 191873082-192192467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 192188055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 866 (T866A)
Ref Sequence ENSEMBL: ENSMUSP00000077563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078470] [ENSMUST00000110844] [ENSMUST00000128619] [ENSMUST00000151152]
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: T866A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: T866A

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
AA Change: T839A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: T839A

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
Predicted Effect probably benign
Transcript: ENSMUST00000128619
SMART Domains Protein: ENSMUSP00000120479
Gene: ENSMUSG00000037375

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
low complexity region 31 43 N/A INTRINSIC
transmembrane domain 71 88 N/A INTRINSIC
transmembrane domain 95 117 N/A INTRINSIC
Pfam:MBOAT 125 448 3.1e-60 PFAM
transmembrane domain 475 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151152
SMART Domains Protein: ENSMUSP00000141247
Gene: ENSMUSG00000058248

DomainStartEndE-ValueType
SCOP:d1rgs_2 1 51 3e-6 SMART
Blast:cNMP 1 55 4e-34 BLAST
PDB:4F8A|A 1 60 1e-38 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,935 (GRCm39) C497S probably benign Het
4930453N24Rik A T 16: 64,589,377 (GRCm39) Y92* probably null Het
Adam3 A G 8: 25,205,127 (GRCm39) V117A probably benign Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Armh4 T A 14: 50,011,695 (GRCm39) D4V probably damaging Het
Atp6v0a4 T C 6: 38,029,988 (GRCm39) K692R probably benign Het
Atp8b1 A G 18: 64,684,931 (GRCm39) V730A probably benign Het
Bdh2 T C 3: 134,991,309 (GRCm39) probably benign Het
Ccnd3 T A 17: 47,905,332 (GRCm39) probably null Het
Chrm4 T C 2: 91,758,075 (GRCm39) V161A possibly damaging Het
Csmd3 T C 15: 47,751,892 (GRCm39) probably benign Het
D430041D05Rik A G 2: 104,087,930 (GRCm39) S349P probably benign Het
Ddx55 A G 5: 124,697,370 (GRCm39) N244S probably damaging Het
Dock1 A G 7: 134,500,825 (GRCm39) probably benign Het
Dppa3 T C 6: 122,605,724 (GRCm39) S93P probably damaging Het
Echdc1 T C 10: 29,220,426 (GRCm39) I217T probably damaging Het
Fpr-rs4 T A 17: 18,242,416 (GRCm39) L141Q probably damaging Het
Galnt15 T C 14: 31,771,935 (GRCm39) F451L probably damaging Het
Galnt9 G A 5: 110,692,665 (GRCm39) R33H probably benign Het
Iah1 G A 12: 21,367,402 (GRCm39) G36D probably damaging Het
Jakmip1 A G 5: 37,332,857 (GRCm39) D1179G probably benign Het
Kcnq4 T A 4: 120,555,150 (GRCm39) I678F probably benign Het
Lars2 A T 9: 123,260,980 (GRCm39) R384* probably null Het
Lman2 T C 13: 55,500,773 (GRCm39) D142G probably damaging Het
Lrp1b T C 2: 40,587,564 (GRCm39) D3897G Het
Lrrn1 T A 6: 107,544,820 (GRCm39) I206N probably damaging Het
Mapkbp1 T A 2: 119,850,143 (GRCm39) L802H probably damaging Het
Meaf6 T C 4: 125,001,450 (GRCm39) probably benign Het
Mier2 G A 10: 79,384,274 (GRCm39) R166W probably damaging Het
Mis18bp1 G A 12: 65,180,616 (GRCm39) S955L probably benign Het
Mocs1 T A 17: 49,756,819 (GRCm39) M267K probably damaging Het
Mroh3 T A 1: 136,128,110 (GRCm39) Y263F probably damaging Het
Ndufs1 A T 1: 63,198,878 (GRCm39) probably benign Het
Nuak1 T C 10: 84,210,492 (GRCm39) Y532C probably damaging Het
Or51b6 A G 7: 103,556,165 (GRCm39) H170R Het
Or6c205 A T 10: 129,086,669 (GRCm39) T89S possibly damaging Het
Ost4 A G 5: 31,064,866 (GRCm39) V5A possibly damaging Het
P2rx1 T A 11: 72,900,059 (GRCm39) C159S probably damaging Het
Paqr8 T C 1: 21,005,614 (GRCm39) L256P possibly damaging Het
Pgls T A 8: 72,048,689 (GRCm39) probably benign Het
Pkd2l1 T C 19: 44,140,864 (GRCm39) E566G possibly damaging Het
Plau A T 14: 20,889,613 (GRCm39) H226L probably damaging Het
Rps18-ps5 A G 13: 28,441,872 (GRCm39) N85S probably damaging Het
Rraga T C 4: 86,494,675 (GRCm39) S174P probably damaging Het
Sacs T A 14: 61,445,185 (GRCm39) D2410E probably benign Het
Sgms1 A T 19: 32,137,227 (GRCm39) M113K probably benign Het
Skint6 C A 4: 113,095,347 (GRCm39) G104V probably damaging Het
Spata31f1e C T 4: 42,792,546 (GRCm39) G529S probably benign Het
Sqor T A 2: 122,649,876 (GRCm39) Y373* probably null Het
Stra6l T A 4: 45,864,910 (GRCm39) S79T possibly damaging Het
Svep1 T C 4: 58,091,915 (GRCm39) I1573M possibly damaging Het
Syne2 A G 12: 76,146,224 (GRCm39) D1674G possibly damaging Het
Tex26 C A 5: 149,376,884 (GRCm39) T91N probably damaging Het
Tigd2 T G 6: 59,187,887 (GRCm39) S251R probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tnks1bp1 T A 2: 84,901,048 (GRCm39) L1585Q probably damaging Het
Trmt10c A G 16: 55,855,542 (GRCm39) V31A probably benign Het
Ttc41 T C 10: 86,569,625 (GRCm39) S668P probably damaging Het
Uggt2 A T 14: 119,326,724 (GRCm39) D162E probably damaging Het
Vmn1r125 G C 7: 21,006,503 (GRCm39) V134L probably benign Het
Vmn1r225 T A 17: 20,723,449 (GRCm39) F297I probably damaging Het
Vps13c A G 9: 67,845,006 (GRCm39) D2030G 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
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
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
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'- GTTCCGCCAGCAGAAAGAAG -3'
(R):5'- TTTCACCTCCAGCACTGTGG -3'

Sequencing Primer
(F):5'- ACGCCTGTGTCCTTCCAGG -3'
(R):5'- AGCACTGTGGCCTGCAG -3'
Posted On 2021-10-11