Incidental Mutation 'R0226:Kcnh1'
ID 33893
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 038471-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R0226 (G1)
Quality Score 217
Status Validated
Chromosome 1
Chromosomal Location 191873082-192192467 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 191959112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 222 (W222*)
Ref Sequence ENSEMBL: ENSMUSP00000106468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078470] [ENSMUST00000110844]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000078470
AA Change: W222*
SMART Domains Protein: ENSMUSP00000077563
Gene: ENSMUSG00000058248
AA Change: W222*

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 null
Transcript: ENSMUST00000110844
AA Change: W222*
SMART Domains Protein: ENSMUSP00000106468
Gene: ENSMUSG00000058248
AA Change: W222*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (98/98)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G T 14: 59,379,569 (GRCm39) T54K possibly damaging Het
2210408I21Rik A T 13: 77,451,544 (GRCm39) E876V possibly damaging Het
Aasdh A T 5: 77,049,849 (GRCm39) L49Q probably damaging Het
Abca8b T C 11: 109,847,844 (GRCm39) probably null Het
Ablim1 A T 19: 57,032,302 (GRCm39) L556Q probably damaging Het
Afdn A G 17: 14,119,408 (GRCm39) T1700A probably benign Het
Agl G A 3: 116,545,720 (GRCm39) R1359C probably damaging Het
Agpat3 T A 10: 78,113,863 (GRCm39) H275L possibly damaging Het
Ahcyl1 A T 3: 107,577,586 (GRCm39) C180* probably null Het
Aim2 A G 1: 173,289,899 (GRCm39) probably benign Het
Angpt1 T C 15: 42,331,631 (GRCm39) N320S probably benign Het
Ankrd52 T A 10: 128,225,727 (GRCm39) probably null Het
Ap1g1 C T 8: 110,581,694 (GRCm39) S654L probably benign Het
Bpifa1 T A 2: 153,987,977 (GRCm39) S173R probably benign Het
Brd8 T C 18: 34,736,947 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C1qtnf2 A G 11: 43,381,670 (GRCm39) T161A probably benign Het
Car6 T C 4: 150,271,965 (GRCm39) Y228C probably damaging Het
Ccdc149 A G 5: 52,557,559 (GRCm39) L273P probably damaging Het
Cit G A 5: 116,122,899 (GRCm39) R1405Q probably damaging Het
Cox17 T C 16: 38,169,638 (GRCm39) L48P probably damaging Het
Cttn A G 7: 143,995,589 (GRCm39) probably benign Het
Cyp4f18 T C 8: 72,743,619 (GRCm39) probably benign Het
Dtnbp1 A G 13: 45,076,669 (GRCm39) L175P probably damaging Het
Efl1 T C 7: 82,342,219 (GRCm39) probably benign Het
Fbn1 C T 2: 125,162,830 (GRCm39) R2152Q possibly damaging Het
Fignl1 A T 11: 11,751,061 (GRCm39) S665T probably benign Het
Gm9843 A T 16: 76,200,449 (GRCm39) noncoding transcript Het
Gpr155 C T 2: 73,197,936 (GRCm39) V395I probably benign Het
Greb1l T C 18: 10,522,076 (GRCm39) probably benign Het
Hdgfl1 A T 13: 26,953,979 (GRCm39) H31Q probably benign Het
Heatr1 T C 13: 12,425,443 (GRCm39) S628P probably damaging Het
Hivep2 A G 10: 14,005,456 (GRCm39) T685A probably benign Het
Hmgcl T G 4: 135,686,039 (GRCm39) V168G probably damaging Het
Itch T C 2: 155,041,314 (GRCm39) I454T probably benign Het
Itih2 T C 2: 10,120,110 (GRCm39) D309G possibly damaging Het
Kcmf1 T C 6: 72,819,935 (GRCm39) I304V probably benign Het
Kif24 T A 4: 41,414,939 (GRCm39) K287* probably null Het
Lrig3 A G 10: 125,807,986 (GRCm39) probably benign Het
Lrp2 A T 2: 69,367,907 (GRCm39) C202S probably null Het
Lrrc37 A T 11: 103,494,067 (GRCm39) F663L probably benign Het
Lrrn2 A G 1: 132,865,558 (GRCm39) N208D probably damaging Het
Mcm5 C T 8: 75,852,880 (GRCm39) T664I possibly damaging Het
Mfsd10 A G 5: 34,791,790 (GRCm39) L365S probably benign Het
Mfsd6 A G 1: 52,697,849 (GRCm39) probably benign Het
Mgat4e A G 1: 134,468,841 (GRCm39) V401A probably benign Het
Mllt3 C A 4: 87,758,969 (GRCm39) V360L probably benign Het
Mrm1 G A 11: 84,709,996 (GRCm39) A68V possibly damaging Het
Myo19 A G 11: 84,788,558 (GRCm39) probably benign Het
Myo3b A G 2: 70,047,510 (GRCm39) T311A probably benign Het
Myo5b T C 18: 74,875,251 (GRCm39) F1552L probably benign Het
Myo7b C T 18: 32,105,949 (GRCm39) V1353I probably benign Het
Myo9b T C 8: 71,806,476 (GRCm39) S1512P probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Osbpl3 A G 6: 50,329,988 (GRCm39) W63R probably damaging Het
Pcdh17 T C 14: 84,685,641 (GRCm39) S703P probably damaging Het
Pclo T C 5: 14,815,237 (GRCm39) I1231T probably damaging Het
Pex16 A C 2: 92,206,032 (GRCm39) probably benign Het
Pfkl T C 10: 77,828,368 (GRCm39) N399S probably benign Het
Pkhd1l1 G A 15: 44,390,180 (GRCm39) R1432K possibly damaging Het
Prdm1 T A 10: 44,332,692 (GRCm39) T106S probably benign Het
Prrc1 A G 18: 57,496,363 (GRCm39) M105V probably benign Het
Psg26 A G 7: 18,217,883 (GRCm39) C12R possibly damaging Het
Rnf43 A T 11: 87,622,263 (GRCm39) S455C probably damaging Het
Ryr2 T C 13: 11,787,442 (GRCm39) K977R probably damaging Het
Sart1 C T 19: 5,431,150 (GRCm39) probably benign Het
Sec14l5 A G 16: 4,998,167 (GRCm39) S509G probably benign Het
Sin3b A T 8: 73,471,136 (GRCm39) E361V probably benign Het
Slc35e3 C T 10: 117,576,795 (GRCm39) E179K possibly damaging Het
Sntb2 T C 8: 107,728,215 (GRCm39) S388P probably damaging Het
Srms A G 2: 180,854,175 (GRCm39) S131P probably benign Het
Sting1 A T 18: 35,872,141 (GRCm39) F120L probably benign Het
Stxbp5 T C 10: 9,742,442 (GRCm39) probably benign Het
Taar2 T C 10: 23,816,961 (GRCm39) V167A probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Thsd7a A G 6: 12,321,899 (GRCm39) Y1516H possibly damaging Het
Tlk1 T A 2: 70,544,513 (GRCm39) probably benign Het
Tnfaip3 T C 10: 18,878,495 (GRCm39) K771R probably damaging Het
Treml1 C T 17: 48,667,486 (GRCm39) L124F probably damaging Het
Ttn G T 2: 76,611,141 (GRCm39) Q9137K possibly damaging Het
Unkl T A 17: 25,449,685 (GRCm39) I469N probably damaging Het
Vmn1r173 G T 7: 23,402,508 (GRCm39) V248L possibly damaging Het
Vps35 T C 8: 86,000,204 (GRCm39) Q474R probably damaging Het
Wdr17 T A 8: 55,116,043 (GRCm39) T580S probably benign Het
Xpnpep1 T C 19: 52,998,583 (GRCm39) K222E probably benign Het
Ylpm1 A G 12: 85,096,511 (GRCm39) T1446A probably benign Het
Zfp277 A G 12: 40,414,161 (GRCm39) L228S possibly damaging Het
Zfp941 T A 7: 140,393,188 (GRCm39) K57M probably damaging Het
Zmpste24 A T 4: 120,938,406 (GRCm39) S244R 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
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
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'- GCTATCACTACAGCACGAGCACTTC -3'
(R):5'- CACGTCTTCAGGTAGTTCATGCGG -3'

Sequencing Primer
(F):5'- AGCACGAGCACTTCTGTTAC -3'
(R):5'- AAGTTTGGGGTCAGATATCACTTCC -3'
Posted On 2013-05-09