Incidental Mutation 'RF006:Kcnh3'
ID 602849
Institutional Source Beutler Lab
Gene Symbol Kcnh3
Ensembl Gene ENSMUSG00000037579
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 3
Synonyms Melk2, C030044P22Rik, Elk2, ether a go-go like
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF006 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99122742-99140698 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 99137809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000040548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506]
AlphaFold Q9WVJ0
Predicted Effect probably benign
Transcript: ENSMUST00000041190
SMART Domains Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570

DomainStartEndE-ValueType
low complexity region 44 57 N/A INTRINSIC
low complexity region 81 113 N/A INTRINSIC
Pfam:MCRS_N 134 331 5.7e-98 PFAM
FHA 362 419 2.04e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000041415
SMART Domains Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579

DomainStartEndE-ValueType
PAS 20 88 3.94e0 SMART
PAC 94 136 9.92e-6 SMART
low complexity region 148 159 N/A INTRINSIC
Pfam:Ion_trans 224 523 3.8e-34 PFAM
Pfam:Ion_trans_2 453 517 1e-12 PFAM
cNMP 593 708 2.04e-16 SMART
low complexity region 781 800 N/A INTRINSIC
low complexity region 857 872 N/A INTRINSIC
coiled coil region 886 918 N/A INTRINSIC
low complexity region 977 993 N/A INTRINSIC
low complexity region 1022 1035 N/A INTRINSIC
low complexity region 1054 1062 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163506
SMART Domains Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570

DomainStartEndE-ValueType
low complexity region 31 44 N/A INTRINSIC
low complexity region 68 100 N/A INTRINSIC
Pfam:MCRS_N 121 318 2.4e-97 PFAM
FHA 349 406 2.04e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000229399
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 97% (36/37)
MGI Phenotype FUNCTION: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. An increase in cognitive function was observed when this gene was knocked out, while deletion of the gene resulted in hippocampal hyperexcitability and epilepsy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd7 GTT GT 2: 3,341,736 (GRCm39) probably null Het
Acp7 A T 7: 28,314,204 (GRCm39) N330K possibly damaging Het
Adam25 A T 8: 41,208,834 (GRCm39) H700L probably benign Het
Alg9 GGGTGG GGGTGGTGG 9: 50,686,717 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,362,070 (GRCm39) V689E probably benign Het
Atxn2l A G 7: 126,095,063 (GRCm39) V533A probably benign Het
Catsperb G A 12: 101,542,238 (GRCm39) probably null Het
Ccdc121 C T 5: 31,644,894 (GRCm39) Q216* probably null Het
Ccdc13 T C 9: 121,643,273 (GRCm39) K376R probably damaging Het
Ccdc170 C CCAA 10: 4,511,030 (GRCm39) probably benign Het
Cdh9 G C 15: 16,855,916 (GRCm39) R652P probably damaging Het
Cenpf A C 1: 189,389,583 (GRCm39) C1416W probably damaging Het
Chga GCA GCATCA 12: 102,527,671 (GRCm39) probably benign Het
Cyb5r4 TGTGACAGACACACTGCCCAGGGAAG TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG 9: 86,922,478 (GRCm39) probably benign Het
Cyb5r4 CCCAGGGA CCCAGGGATGTGAGAGACACGCTGGCCAGGGA 9: 86,922,494 (GRCm39) probably benign Het
Dennd3 T C 15: 73,419,441 (GRCm39) I744T probably damaging Het
Dnah1 C T 14: 31,029,832 (GRCm39) R491Q probably benign Het
Eif4a2 A T 16: 22,929,028 (GRCm39) M188L possibly damaging Het
Esf1 CTCCTCTTC CTC 2: 140,006,294 (GRCm39) probably benign Het
Fat3 T C 9: 15,909,913 (GRCm39) I2030V probably benign Het
Gab3 CTT CTTTTT X: 74,043,633 (GRCm39) probably benign Het
Gins4 A T 8: 23,717,183 (GRCm39) V195E possibly damaging Het
Gm17402 TCCTCCTCC TCCTCCTCCCCCTCCTCC 3: 67,272,892 (GRCm39) probably benign Het
Gm17604 CTCTCTTTC CTC X: 163,786,814 (GRCm39) probably null Het
Gm8369 GTGTGT GTGTGTTTGTGT 19: 11,489,128 (GRCm39) probably benign Het
Gnpnat1 T A 14: 45,620,900 (GRCm39) probably null Het
Inpp4a A C 1: 37,427,908 (GRCm39) N651T possibly damaging Het
Ireb2 T C 9: 54,788,768 (GRCm39) F81L possibly damaging Het
Kmt2b CTCCTC CTCCTCATCCTC 7: 30,285,802 (GRCm39) probably benign Het
Kmt2c TG TGCTGTGG 5: 25,520,770 (GRCm39) probably benign Het
Myt1 T C 2: 181,439,566 (GRCm39) S405P probably damaging Het
Net1 T C 13: 3,937,406 (GRCm39) T245A probably benign Het
Nkx2-1 T C 12: 56,580,332 (GRCm39) T203A probably damaging Het
Oas3 T C 5: 120,912,165 (GRCm39) E75G probably damaging Het
Pappa T A 4: 65,242,110 (GRCm39) D1491E probably benign Het
Pkhd1l1 C A 15: 44,366,634 (GRCm39) T704K probably benign Het
Pkhd1l1 TT TTTTTTTTTGT 15: 44,421,903 (GRCm39) probably benign Het
Plscr1l1 A T 9: 92,234,702 (GRCm39) I146F possibly damaging Het
Ppp1r8 TCTCTCAC TC 4: 132,557,928 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,600 (GRCm39) I157F probably benign Het
Pramel34 A T 5: 93,784,562 (GRCm39) C301S probably benign Het
Rspo4 C T 2: 151,709,797 (GRCm39) probably null Het
Rtn4 T C 11: 29,656,919 (GRCm39) S358P possibly damaging Het
Siglecg T A 7: 43,058,288 (GRCm39) Y58* probably null Het
Slc4a1 C T 11: 102,247,542 (GRCm39) probably null Het
Slc9b1 CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG 3: 135,063,303 (GRCm39) probably benign Het
Smc2 T A 4: 52,442,276 (GRCm39) D64E probably benign Het
Spaca1 CTCGC CTCGCTATCGC 4: 34,049,853 (GRCm39) probably benign Het
Srrm2 A G 17: 24,031,562 (GRCm39) S236G unknown Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Strn TGCTCCCTTACCCCAGTC TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC 17: 78,984,700 (GRCm39) probably null Het
Tfeb CAG CAGGAG 17: 48,097,038 (GRCm39) probably benign Het
Tktl2 A T 8: 66,965,504 (GRCm39) E354V probably benign Het
Tpte A G 8: 22,796,959 (GRCm39) T94A probably benign Het
Usp40 A C 1: 87,894,917 (GRCm39) S868A possibly damaging Het
Vmn2r24 G A 6: 123,783,378 (GRCm39) C526Y probably damaging Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Other mutations in Kcnh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Kcnh3 APN 15 99,140,354 (GRCm39) missense possibly damaging 0.85
IGL00911:Kcnh3 APN 15 99,130,882 (GRCm39) nonsense probably null
IGL01099:Kcnh3 APN 15 99,137,617 (GRCm39) missense probably benign 0.02
IGL01350:Kcnh3 APN 15 99,139,873 (GRCm39) missense probably benign
IGL01375:Kcnh3 APN 15 99,124,874 (GRCm39) nonsense probably null
IGL01611:Kcnh3 APN 15 99,127,383 (GRCm39) missense probably benign 0.04
IGL01920:Kcnh3 APN 15 99,131,258 (GRCm39) missense probably benign 0.16
IGL02282:Kcnh3 APN 15 99,125,924 (GRCm39) critical splice donor site probably null
IGL02581:Kcnh3 APN 15 99,136,052 (GRCm39) missense possibly damaging 0.72
IGL02889:Kcnh3 APN 15 99,124,991 (GRCm39) missense probably null 0.82
R0427:Kcnh3 UTSW 15 99,131,180 (GRCm39) missense probably benign 0.22
R0532:Kcnh3 UTSW 15 99,130,844 (GRCm39) missense probably damaging 1.00
R0538:Kcnh3 UTSW 15 99,138,839 (GRCm39) missense probably benign 0.00
R0552:Kcnh3 UTSW 15 99,127,337 (GRCm39) missense probably damaging 1.00
R1235:Kcnh3 UTSW 15 99,139,984 (GRCm39) splice site probably null
R1290:Kcnh3 UTSW 15 99,125,001 (GRCm39) splice site probably null
R1499:Kcnh3 UTSW 15 99,137,796 (GRCm39) missense probably benign 0.00
R1517:Kcnh3 UTSW 15 99,136,090 (GRCm39) missense probably damaging 1.00
R1706:Kcnh3 UTSW 15 99,135,959 (GRCm39) missense possibly damaging 0.86
R1973:Kcnh3 UTSW 15 99,127,281 (GRCm39) missense probably damaging 1.00
R2285:Kcnh3 UTSW 15 99,139,873 (GRCm39) missense probably benign
R3196:Kcnh3 UTSW 15 99,131,862 (GRCm39) missense probably damaging 1.00
R3716:Kcnh3 UTSW 15 99,130,646 (GRCm39) missense possibly damaging 0.52
R4619:Kcnh3 UTSW 15 99,131,982 (GRCm39) missense probably damaging 1.00
R4620:Kcnh3 UTSW 15 99,131,982 (GRCm39) missense probably damaging 1.00
R4624:Kcnh3 UTSW 15 99,124,253 (GRCm39) missense probably damaging 1.00
R4701:Kcnh3 UTSW 15 99,139,826 (GRCm39) missense probably benign
R4853:Kcnh3 UTSW 15 99,139,970 (GRCm39) missense possibly damaging 0.56
R4869:Kcnh3 UTSW 15 99,139,913 (GRCm39) missense probably benign 0.06
R4991:Kcnh3 UTSW 15 99,130,637 (GRCm39) missense probably benign 0.00
R5004:Kcnh3 UTSW 15 99,124,383 (GRCm39) nonsense probably null
R5296:Kcnh3 UTSW 15 99,139,820 (GRCm39) missense probably null 0.92
R5317:Kcnh3 UTSW 15 99,125,822 (GRCm39) missense probably benign
R5338:Kcnh3 UTSW 15 99,140,275 (GRCm39) nonsense probably null
R5658:Kcnh3 UTSW 15 99,139,957 (GRCm39) missense possibly damaging 0.77
R5794:Kcnh3 UTSW 15 99,130,855 (GRCm39) missense probably benign 0.01
R5934:Kcnh3 UTSW 15 99,124,414 (GRCm39) missense possibly damaging 0.46
R6303:Kcnh3 UTSW 15 99,124,919 (GRCm39) missense probably benign 0.37
R6304:Kcnh3 UTSW 15 99,124,919 (GRCm39) missense probably benign 0.37
R6385:Kcnh3 UTSW 15 99,125,822 (GRCm39) missense probably benign
R6466:Kcnh3 UTSW 15 99,136,124 (GRCm39) missense probably damaging 1.00
R6640:Kcnh3 UTSW 15 99,139,649 (GRCm39) missense probably benign 0.08
R6879:Kcnh3 UTSW 15 99,136,048 (GRCm39) missense probably damaging 1.00
R6984:Kcnh3 UTSW 15 99,126,433 (GRCm39) missense probably benign 0.00
R7770:Kcnh3 UTSW 15 99,131,147 (GRCm39) missense probably damaging 1.00
R8354:Kcnh3 UTSW 15 99,127,211 (GRCm39) missense probably damaging 1.00
R8427:Kcnh3 UTSW 15 99,124,934 (GRCm39) missense probably benign 0.00
R8486:Kcnh3 UTSW 15 99,136,091 (GRCm39) missense probably damaging 1.00
R9080:Kcnh3 UTSW 15 99,139,667 (GRCm39) missense probably damaging 1.00
R9339:Kcnh3 UTSW 15 99,130,786 (GRCm39) missense probably damaging 1.00
X0028:Kcnh3 UTSW 15 99,139,981 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TACTCTCCCCACGTCGAACT -3'
(R):5'- TGACTAGAAGGATAGGGCCTGG -3'

Sequencing Primer
(F):5'- ACGTCGAACTGCGCCTC -3'
(R):5'- TCTTGCAGAGAACTTGCACAG -3'
Posted On 2019-12-04