Incidental Mutation 'IGL01611:Kcnh3'
ID92105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnh3
Ensembl Gene ENSMUSG00000037579
Gene Namepotassium voltage-gated channel, subfamily H (eag-related), member 3
SynonymsElk2, Melk2, C030044P22Rik, ether a go-go like
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01611
Quality Score
Status
Chromosome15
Chromosomal Location99224861-99242817 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99229502 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 393 (L393P)
Ref Sequence ENSEMBL: ENSMUSP00000040548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041415]
Predicted Effect probably benign
Transcript: ENSMUST00000041415
AA Change: L393P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579
AA Change: L393P

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 noncoding transcript
Transcript: ENSMUST00000228983
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A G 12: 72,907,870 L209S possibly damaging Het
Abcc2 G T 19: 43,826,629 V1152F probably damaging Het
Adam9 C T 8: 24,967,196 V639I probably benign Het
Cdc6 A G 11: 98,915,163 I388V probably benign Het
Chrm5 C T 2: 112,480,306 W155* probably null Het
Chrna9 A G 5: 65,970,944 D161G probably damaging Het
Det1 A G 7: 78,827,954 V541A possibly damaging Het
Efhc1 G T 1: 20,990,687 *649L probably null Het
Ehbp1 C T 11: 22,172,883 V146M probably damaging Het
Enam A C 5: 88,503,749 D1039A probably damaging Het
Fam20b A T 1: 156,702,465 V133E probably benign Het
Frem2 T A 3: 53,655,709 Q459L probably benign Het
Gapdhs C T 7: 30,730,441 probably benign Het
Gm3404 T A 5: 146,528,347 V299D possibly damaging Het
Gorasp2 C A 2: 70,689,260 H310N possibly damaging Het
Gpr157 T C 4: 150,101,637 S219P possibly damaging Het
Gpt2 T A 8: 85,519,538 C375* probably null Het
Gtf2h3 T C 5: 124,595,685 S274P probably damaging Het
Hmg20b C T 10: 81,347,475 V83M probably benign Het
Igf2r G T 17: 12,725,415 Y400* probably null Het
Ipo9 A T 1: 135,386,693 W942R possibly damaging Het
Iqch T C 9: 63,496,237 probably null Het
Kcnk12 T A 17: 87,797,067 I130L probably benign Het
Lcorl T C 5: 45,747,092 T205A probably damaging Het
Lpar6 G T 14: 73,239,438 A280S probably damaging Het
Mgarp A T 3: 51,389,149 V152E probably damaging Het
Pard3b A G 1: 62,637,862 D1184G probably damaging Het
Pcnt A G 10: 76,436,424 probably null Het
Pde6b A G 5: 108,403,396 N182S possibly damaging Het
Pom121 T C 5: 135,383,672 K516E unknown Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Ptpn18 T C 1: 34,459,817 probably benign Het
Rapgef5 C T 12: 117,753,419 probably benign Het
Ryr2 A G 13: 11,591,316 L4460S possibly damaging Het
Sema6b T C 17: 56,129,969 probably null Het
Serpinb6d T A 13: 33,666,392 C67* probably null Het
Sorbs2 T G 8: 45,795,344 V510G probably null Het
Spic T A 10: 88,676,002 I131F possibly damaging Het
Spire2 T C 8: 123,359,398 S290P probably damaging Het
Tas2r117 C T 6: 132,803,484 S195F probably benign Het
Tas2r117 T C 6: 132,803,487 V196A probably damaging Het
Tff1 C T 17: 31,162,729 G58D probably damaging Het
Tmprss11g T C 5: 86,490,781 T283A probably benign Het
Toporsl T A 4: 52,610,794 L229H probably damaging Het
Vmn2r80 G A 10: 79,171,654 G488D probably damaging Het
Vps54 T A 11: 21,311,082 V583D probably damaging Het
Vwa1 T C 4: 155,770,798 E286G possibly damaging Het
Vwde A T 6: 13,219,978 I58N probably damaging Het
Zbtb11 T C 16: 55,980,610 V109A probably damaging Het
Zfp319 C T 8: 95,328,912 R221Q probably benign Het
Other mutations in Kcnh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Kcnh3 APN 15 99242473 missense possibly damaging 0.85
IGL00911:Kcnh3 APN 15 99233001 nonsense probably null
IGL01099:Kcnh3 APN 15 99239736 missense probably benign 0.02
IGL01350:Kcnh3 APN 15 99241992 missense probably benign
IGL01375:Kcnh3 APN 15 99226993 nonsense probably null
IGL01920:Kcnh3 APN 15 99233377 missense probably benign 0.16
IGL02282:Kcnh3 APN 15 99228043 critical splice donor site probably null
IGL02581:Kcnh3 APN 15 99238171 missense possibly damaging 0.72
IGL02889:Kcnh3 APN 15 99227110 missense probably null 0.82
R0427:Kcnh3 UTSW 15 99233299 missense probably benign 0.22
R0532:Kcnh3 UTSW 15 99232963 missense probably damaging 1.00
R0538:Kcnh3 UTSW 15 99240958 missense probably benign 0.00
R0552:Kcnh3 UTSW 15 99229456 missense probably damaging 1.00
R1235:Kcnh3 UTSW 15 99242103 unclassified probably null
R1290:Kcnh3 UTSW 15 99227120 splice site probably null
R1499:Kcnh3 UTSW 15 99239915 missense probably benign 0.00
R1517:Kcnh3 UTSW 15 99238209 missense probably damaging 1.00
R1706:Kcnh3 UTSW 15 99238078 missense possibly damaging 0.86
R1973:Kcnh3 UTSW 15 99229400 missense probably damaging 1.00
R2285:Kcnh3 UTSW 15 99241992 missense probably benign
R3196:Kcnh3 UTSW 15 99233981 missense probably damaging 1.00
R3716:Kcnh3 UTSW 15 99232765 missense possibly damaging 0.52
R4619:Kcnh3 UTSW 15 99234101 missense probably damaging 1.00
R4620:Kcnh3 UTSW 15 99234101 missense probably damaging 1.00
R4624:Kcnh3 UTSW 15 99226372 missense probably damaging 1.00
R4701:Kcnh3 UTSW 15 99241945 missense probably benign
R4853:Kcnh3 UTSW 15 99242089 missense possibly damaging 0.56
R4869:Kcnh3 UTSW 15 99242032 missense probably benign 0.06
R4991:Kcnh3 UTSW 15 99232756 missense probably benign 0.00
R5004:Kcnh3 UTSW 15 99226502 nonsense probably null
R5296:Kcnh3 UTSW 15 99241939 missense probably null 0.92
R5317:Kcnh3 UTSW 15 99227941 missense probably benign
R5338:Kcnh3 UTSW 15 99242394 nonsense probably null
R5658:Kcnh3 UTSW 15 99242076 missense possibly damaging 0.77
R5794:Kcnh3 UTSW 15 99232974 missense probably benign 0.01
R5934:Kcnh3 UTSW 15 99226533 missense possibly damaging 0.46
R6303:Kcnh3 UTSW 15 99227038 missense probably benign 0.37
R6304:Kcnh3 UTSW 15 99227038 missense probably benign 0.37
R6385:Kcnh3 UTSW 15 99227941 missense probably benign
R6466:Kcnh3 UTSW 15 99238243 missense probably damaging 1.00
R6640:Kcnh3 UTSW 15 99241768 missense probably benign 0.08
R6879:Kcnh3 UTSW 15 99238167 missense probably damaging 1.00
R6984:Kcnh3 UTSW 15 99228552 missense probably benign 0.00
X0028:Kcnh3 UTSW 15 99242100 missense probably benign 0.01
Posted On2013-12-09