Incidental Mutation 'R0330:Kcnh4'
ID 26006
Institutional Source Beutler Lab
Gene Symbol Kcnh4
Ensembl Gene ENSMUSG00000035355
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 4
Synonyms BEC2
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0330 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100631202-100650768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100648569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 45 (C45Y)
Ref Sequence ENSEMBL: ENSMUSP00000102986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055083] [ENSMUST00000107360] [ENSMUST00000107361] [ENSMUST00000107363]
AlphaFold A2A5F7
Predicted Effect probably benign
Transcript: ENSMUST00000055083
SMART Domains Protein: ENSMUSP00000057578
Gene: ENSMUSG00000045471

DomainStartEndE-ValueType
Pfam:Orexin 1 129 2.2e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107360
SMART Domains Protein: ENSMUSP00000102983
Gene: ENSMUSG00000045471

DomainStartEndE-ValueType
Pfam:Orexin 1 106 2.3e-60 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107361
AA Change: C45Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: C45Y

DomainStartEndE-ValueType
PAS 16 88 1.41e-1 SMART
PAC 94 136 4.88e-5 SMART
low complexity region 155 168 N/A INTRINSIC
Pfam:Ion_trans 226 486 1.5e-32 PFAM
Pfam:Ion_trans_2 412 480 2.3e-12 PFAM
cNMP 556 681 1.27e-12 SMART
low complexity region 726 735 N/A INTRINSIC
low complexity region 766 787 N/A INTRINSIC
coiled coil region 874 911 N/A INTRINSIC
low complexity region 981 1006 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107363
AA Change: C45Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: C45Y

DomainStartEndE-ValueType
PAS 16 88 1.41e-1 SMART
PAC 94 136 4.88e-5 SMART
low complexity region 155 168 N/A INTRINSIC
transmembrane domain 228 250 N/A INTRINSIC
Pfam:Ion_trans 265 474 1.1e-17 PFAM
Pfam:Ion_trans_2 412 480 2.2e-12 PFAM
cNMP 556 681 1.27e-12 SMART
low complexity region 726 735 N/A INTRINSIC
low complexity region 766 787 N/A INTRINSIC
coiled coil region 874 911 N/A INTRINSIC
low complexity region 981 1006 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
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. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tfdp2 T G 9: 96,188,946 (GRCm39) F200V probably damaging Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in Kcnh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Kcnh4 APN 11 100,647,821 (GRCm39) splice site probably benign
IGL00430:Kcnh4 APN 11 100,648,480 (GRCm39) missense possibly damaging 0.85
IGL02031:Kcnh4 APN 11 100,636,649 (GRCm39) missense probably damaging 1.00
IGL02346:Kcnh4 APN 11 100,647,768 (GRCm39) missense possibly damaging 0.46
IGL02674:Kcnh4 APN 11 100,637,720 (GRCm39) missense possibly damaging 0.58
IGL02903:Kcnh4 APN 11 100,648,480 (GRCm39) missense possibly damaging 0.50
IGL03152:Kcnh4 APN 11 100,636,598 (GRCm39) missense probably benign 0.00
R0032:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R0033:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R0066:Kcnh4 UTSW 11 100,648,626 (GRCm39) missense probably benign 0.11
R0066:Kcnh4 UTSW 11 100,648,626 (GRCm39) missense probably benign 0.11
R0242:Kcnh4 UTSW 11 100,646,525 (GRCm39) missense probably damaging 1.00
R0242:Kcnh4 UTSW 11 100,646,525 (GRCm39) missense probably damaging 1.00
R0244:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R0310:Kcnh4 UTSW 11 100,636,995 (GRCm39) missense probably benign 0.04
R0345:Kcnh4 UTSW 11 100,648,507 (GRCm39) missense probably benign 0.08
R0436:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R0466:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R0468:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R0487:Kcnh4 UTSW 11 100,641,084 (GRCm39) missense probably damaging 0.99
R0562:Kcnh4 UTSW 11 100,641,070 (GRCm39) missense possibly damaging 0.80
R0613:Kcnh4 UTSW 11 100,637,758 (GRCm39) missense probably benign 0.19
R1077:Kcnh4 UTSW 11 100,643,164 (GRCm39) missense possibly damaging 0.72
R1705:Kcnh4 UTSW 11 100,632,598 (GRCm39) missense probably benign
R1840:Kcnh4 UTSW 11 100,636,167 (GRCm39) missense possibly damaging 0.46
R2114:Kcnh4 UTSW 11 100,650,421 (GRCm39) missense probably damaging 1.00
R4448:Kcnh4 UTSW 11 100,646,733 (GRCm39) missense probably benign 0.00
R4823:Kcnh4 UTSW 11 100,646,000 (GRCm39) missense probably damaging 1.00
R4865:Kcnh4 UTSW 11 100,640,569 (GRCm39) missense probably damaging 1.00
R4963:Kcnh4 UTSW 11 100,643,079 (GRCm39) missense probably damaging 1.00
R4977:Kcnh4 UTSW 11 100,637,659 (GRCm39) missense probably damaging 1.00
R5228:Kcnh4 UTSW 11 100,637,722 (GRCm39) missense probably damaging 1.00
R5385:Kcnh4 UTSW 11 100,643,076 (GRCm39) missense probably damaging 1.00
R5414:Kcnh4 UTSW 11 100,637,722 (GRCm39) missense probably damaging 1.00
R5682:Kcnh4 UTSW 11 100,640,628 (GRCm39) missense possibly damaging 0.82
R5945:Kcnh4 UTSW 11 100,636,148 (GRCm39) missense probably damaging 1.00
R6434:Kcnh4 UTSW 11 100,641,105 (GRCm39) missense probably damaging 0.97
R6505:Kcnh4 UTSW 11 100,647,911 (GRCm39) missense probably benign 0.39
R7263:Kcnh4 UTSW 11 100,632,643 (GRCm39) missense probably benign 0.06
R7270:Kcnh4 UTSW 11 100,638,472 (GRCm39) missense probably benign
R7353:Kcnh4 UTSW 11 100,648,025 (GRCm39) missense probably benign 0.18
R7355:Kcnh4 UTSW 11 100,643,269 (GRCm39) missense possibly damaging 0.92
R7544:Kcnh4 UTSW 11 100,647,906 (GRCm39) missense probably benign 0.25
R7563:Kcnh4 UTSW 11 100,632,680 (GRCm39) missense probably benign 0.00
R7664:Kcnh4 UTSW 11 100,641,148 (GRCm39) missense probably damaging 1.00
R7972:Kcnh4 UTSW 11 100,643,278 (GRCm39) missense probably damaging 0.98
R8146:Kcnh4 UTSW 11 100,646,105 (GRCm39) missense probably damaging 1.00
R8166:Kcnh4 UTSW 11 100,632,712 (GRCm39) missense probably benign
R8234:Kcnh4 UTSW 11 100,643,093 (GRCm39) missense possibly damaging 0.83
R8295:Kcnh4 UTSW 11 100,640,523 (GRCm39) missense probably benign 0.17
R8318:Kcnh4 UTSW 11 100,643,154 (GRCm39) missense probably damaging 1.00
R8347:Kcnh4 UTSW 11 100,648,575 (GRCm39) missense probably damaging 1.00
R8413:Kcnh4 UTSW 11 100,640,619 (GRCm39) missense possibly damaging 0.60
R8464:Kcnh4 UTSW 11 100,648,010 (GRCm39) missense probably damaging 1.00
R9369:Kcnh4 UTSW 11 100,648,428 (GRCm39) missense probably damaging 1.00
X0025:Kcnh4 UTSW 11 100,641,069 (GRCm39) missense possibly damaging 0.91
X0061:Kcnh4 UTSW 11 100,647,733 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- GGCAAAGCCAGATCAGGCTCTTTAC -3'
(R):5'- AGCATGAACCACACGGCCTCATTG -3'

Sequencing Primer
(F):5'- TACCATCCTTTCGGTAAAAGCAG -3'
(R):5'- CTCATTTCAGAACATCTCAGAGGGAG -3'
Posted On 2013-04-16