Incidental Mutation 'R7544:Kcnh4'
ID 584104
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 045616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7544 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100631202-100650768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 100647906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 152 (H152Q)
Ref Sequence ENSEMBL: ENSMUSP00000102984 (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 benign
Transcript: ENSMUST00000107361
AA Change: H152Q

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: H152Q

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: H152Q

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: H152Q

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,089,765 (GRCm39) V40I probably damaging Het
Abcb11 T C 2: 69,095,830 (GRCm39) K837E probably benign Het
Arhgef10 T C 8: 15,029,854 (GRCm39) S919P probably benign Het
Atxn2 T C 5: 121,919,431 (GRCm39) S530P probably damaging Het
Bicc1 T C 10: 70,792,204 (GRCm39) E268G possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Capn7 T G 14: 31,062,007 (GRCm39) L40V probably damaging Het
Cd28 A T 1: 60,808,859 (GRCm39) N191I probably damaging Het
Cfap69 G A 5: 5,645,936 (GRCm39) T588M not run Het
Csmd1 T C 8: 16,142,310 (GRCm39) E1531G probably damaging Het
Cyp4a14 T A 4: 115,348,283 (GRCm39) D398V probably damaging Het
Dchs2 T C 3: 83,262,434 (GRCm39) S2901P probably damaging Het
Ddx11 G A 17: 66,433,280 (GRCm39) G37S probably damaging Het
Diaph1 A T 18: 38,026,322 (GRCm39) probably null Het
Ech1 T C 7: 28,525,392 (GRCm39) V49A probably benign Het
Elovl4 T C 9: 83,665,271 (GRCm39) Y196C probably damaging Het
Ern2 G A 7: 121,772,422 (GRCm39) L679F probably benign Het
Fbf1 A T 11: 116,056,659 (GRCm39) M17K probably benign Het
Flvcr1 C A 1: 190,758,143 (GRCm39) G50W probably damaging Het
Fryl A G 5: 73,238,382 (GRCm39) S1455P probably benign Het
Fzd9 A G 5: 135,278,716 (GRCm39) Y390H probably damaging Het
Gnai3 C T 3: 108,025,702 (GRCm39) V126M Het
Gpc5 T C 14: 115,665,585 (GRCm39) F470L probably damaging Het
Grin1 T C 2: 25,195,086 (GRCm39) N332S probably benign Het
Gtf3c5 T A 2: 28,469,554 (GRCm39) I117F possibly damaging Het
Hydin A T 8: 111,316,157 (GRCm39) S4350C probably benign Het
Kcnk12 A T 17: 88,053,493 (GRCm39) S390T possibly damaging Het
Klra9 T G 6: 130,168,183 (GRCm39) T28P probably benign Het
Lef1 T A 3: 130,988,414 (GRCm39) I327N probably damaging Het
Lin54 A G 5: 100,633,129 (GRCm39) V185A possibly damaging Het
Lrrc37 T C 11: 103,506,274 (GRCm39) E1898G probably benign Het
Lrrc4b A T 7: 44,111,975 (GRCm39) I616F probably damaging Het
Mad2l1bp A G 17: 46,463,770 (GRCm39) Y85H possibly damaging Het
Mars1 T C 10: 127,147,479 (GRCm39) E7G probably benign Het
Mpnd G A 17: 56,318,666 (GRCm39) R225H probably benign Het
Muc4 T A 16: 32,555,016 (GRCm39) M1K probably null Het
Nckap5 A G 1: 125,953,948 (GRCm39) L868S possibly damaging Het
Ndst1 G A 18: 60,830,256 (GRCm39) T618M probably damaging Het
Npas1 A T 7: 16,194,899 (GRCm39) probably null Het
Nr2f2 A T 7: 70,004,499 (GRCm39) V384D probably damaging Het
Or10a3b A G 7: 108,444,528 (GRCm39) S230P probably benign Het
Or1e19 A G 11: 73,316,596 (GRCm39) L71P probably damaging Het
Or4p8 T A 2: 88,727,705 (GRCm39) I79F probably damaging Het
Paip1 T A 13: 119,582,337 (GRCm39) F188I probably damaging Het
Pcdha4 A T 18: 37,086,776 (GRCm39) I320L probably benign Het
Peg10 TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC T 6: 4,756,427 (GRCm39) probably null Het
Pgpep1 C T 8: 71,103,168 (GRCm39) G110R unknown Het
Pidd1 T A 7: 141,020,252 (GRCm39) H558L possibly damaging Het
Ppp1r1a C T 15: 103,439,776 (GRCm39) probably null Het
Pramel18 T C 4: 101,768,599 (GRCm39) S317P possibly damaging Het
Pramel51 T A 12: 88,142,850 (GRCm39) Y451F probably benign Het
Prkcg A G 7: 3,359,081 (GRCm39) D96G probably benign Het
Prpf40b A G 15: 99,203,899 (GRCm39) N154S probably benign Het
Psg17 A G 7: 18,553,897 (GRCm39) Y118H probably benign Het
Ptpn12 A G 5: 21,214,509 (GRCm39) I209T probably damaging Het
Reln T A 5: 22,181,276 (GRCm39) K1835* probably null Het
Sf3b3 T C 8: 111,564,915 (GRCm39) M298V probably benign Het
Slc5a3 T A 16: 91,874,682 (GRCm39) N246K probably benign Het
Slmap T A 14: 26,151,001 (GRCm39) E522D probably damaging Het
Slmap C T 14: 26,151,003 (GRCm39) E522K probably damaging Het
Tcp10c T A 17: 13,581,260 (GRCm39) L230Q probably damaging Het
Tdo2 A G 3: 81,878,942 (GRCm39) probably null Het
Tet3 A T 6: 83,381,623 (GRCm39) W182R probably damaging Het
Tmem151a T A 19: 5,121,895 (GRCm39) M35L unknown Het
Tom1l2 TTGATGATG TTGATG 11: 60,171,040 (GRCm39) probably benign Het
Trak2 A T 1: 58,960,227 (GRCm39) probably null Het
Trappc11 T A 8: 47,975,449 (GRCm39) E256D possibly damaging Het
Trim62 C T 4: 128,796,346 (GRCm39) T281I probably benign Het
Trip13 T C 13: 74,081,021 (GRCm39) E115G probably benign Het
Trp63 A G 16: 25,620,837 (GRCm39) T10A probably benign Het
Urah A T 7: 140,415,565 (GRCm39) H11L probably damaging Het
Usp39 G A 6: 72,319,891 (GRCm39) T109I probably damaging Het
Wfikkn2 T C 11: 94,128,738 (GRCm39) T468A probably benign Het
Zfhx4 T G 3: 5,477,875 (GRCm39) S3497A probably damaging Het
Zfp85 C T 13: 67,897,184 (GRCm39) R296H probably benign 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
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
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'- TCAACCGGTGTAGGACAGTC -3'
(R):5'- GCCACTGAGAAACCTAGGAG -3'

Sequencing Primer
(F):5'- TAGGACAGTCCGGTTCTGC -3'
(R):5'- TGAACGGGGATGCTCATGC -3'
Posted On 2019-10-17