Incidental Mutation 'R0032:Kcnh4'
ID 59429
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 038326-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0032 (G1) of strain 731
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100631202-100650768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100637758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 633 (G633E)
Ref Sequence ENSEMBL: ENSMUSP00000102986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107361] [ENSMUST00000107363]
AlphaFold A2A5F7
Predicted Effect probably benign
Transcript: ENSMUST00000107361
AA Change: G633E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: G633E

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 benign
Transcript: ENSMUST00000107363
AA Change: G633E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: G633E

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
Meta Mutation Damage Score 0.1391 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (89/89)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
Arrb1 T C 7: 99,231,472 (GRCm39) F9L probably damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Ccbe1 T G 18: 66,424,723 (GRCm39) T35P possibly damaging Het
Cct6b G T 11: 82,644,469 (GRCm39) T202K possibly damaging Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cdk5rap3 A T 11: 96,799,579 (GRCm39) L412Q possibly damaging Het
Cdsn G A 17: 35,866,452 (GRCm39) G327D probably damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Clca3a2 T A 3: 144,522,494 (GRCm39) I176F probably benign Het
Cop1 T C 1: 159,152,606 (GRCm39) probably null Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Ctsg T A 14: 56,339,196 (GRCm39) I21F probably damaging Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Des A G 1: 75,338,810 (GRCm39) E195G possibly damaging Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Enkur T C 2: 21,194,115 (GRCm39) I153V probably benign Het
Epb41l3 G T 17: 69,517,379 (GRCm39) probably null Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fcsk G A 8: 111,618,735 (GRCm39) T341M possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Galnt16 T C 12: 80,639,243 (GRCm39) V419A probably damaging Het
Gm10226 A G 17: 21,910,963 (GRCm39) D66G possibly damaging Het
Gm15821 T A 17: 34,431,199 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Impdh2 A G 9: 108,438,860 (GRCm39) D71G probably damaging Het
Ipo11 A C 13: 106,970,971 (GRCm39) probably benign Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Iqsec3 T C 6: 121,450,089 (GRCm39) D145G possibly damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Junb T C 8: 85,704,415 (GRCm39) H215R probably benign Het
Kcnn3 CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG 3: 89,427,972 (GRCm39) probably benign Het
Krt73 T C 15: 101,702,487 (GRCm39) S459G probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Meis3 C A 7: 15,916,210 (GRCm39) probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Naip6 C T 13: 100,439,745 (GRCm39) E341K probably benign Het
Nbeal2 G T 9: 110,466,936 (GRCm39) probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Or10al2 T A 17: 37,983,378 (GRCm39) W155R probably damaging Het
Or6c210 T A 10: 129,496,269 (GRCm39) V198D probably benign Het
Or8c13 A G 9: 38,091,904 (GRCm39) C72R probably damaging Het
Otog T A 7: 45,937,637 (GRCm39) L1782* probably null Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Ppp2r1a G A 17: 21,165,846 (GRCm39) probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Setmar T A 6: 108,053,377 (GRCm39) C290* probably null Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slc4a5 T A 6: 83,250,139 (GRCm39) I509N probably damaging Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Sycn C T 7: 28,240,717 (GRCm39) A128V possibly damaging Het
Synm C A 7: 67,383,675 (GRCm39) R1329M possibly damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tcp10a T C 17: 7,604,306 (GRCm39) M247T probably benign Het
Tjp2 A G 19: 24,086,059 (GRCm39) L821S probably damaging Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trim34b A G 7: 103,985,784 (GRCm39) D473G possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Trpm5 A T 7: 142,638,978 (GRCm39) D264E probably damaging Het
Tuba8 A T 6: 121,202,863 (GRCm39) D392V probably benign Het
Vmn1r50 C A 6: 90,084,782 (GRCm39) P176T probably damaging Het
Vmn1r76 T C 7: 11,665,194 (GRCm39) I7V probably benign Het
Vmn2r26 T A 6: 124,016,858 (GRCm39) W441R possibly damaging Het
Vmn2r57 T C 7: 41,049,157 (GRCm39) probably null Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging Het
Znhit1 G C 5: 137,013,901 (GRCm39) R8G 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
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
R0330:Kcnh4 UTSW 11 100,648,569 (GRCm39) missense probably damaging 1.00
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'- ACCTTGGCGCAGGTTGAAGGTTAG -3'
(R):5'- CAGTGGCTGTCATTCACTCCAACG -3'

Sequencing Primer
(F):5'- CAGGTTGAAGGTTAGGTCCC -3'
(R):5'- GCACTATAGACATCTTCCACTGG -3'
Posted On 2013-07-11