Incidental Mutation 'R6505:Kcnh4'
ID 523779
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 044637-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6505 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100631202-100650768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100647911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 151 (N151D)
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 benign
Transcript: ENSMUST00000107361
AA Change: N151D

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: N151D

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: N151D

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: N151D

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (84/84)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik A T 17: 9,220,772 (GRCm39) I424L probably benign Het
2610028H24Rik C T 10: 76,285,115 (GRCm39) A8V probably benign Het
Ago1 G A 4: 126,357,628 (GRCm39) P16S probably benign Het
Ak5 C T 3: 152,187,306 (GRCm39) E394K probably benign Het
Aldh7a1 T C 18: 56,660,068 (GRCm39) Y498C probably damaging Het
Alox12 T A 11: 70,141,030 (GRCm39) D335V probably damaging Het
Alx4 A T 2: 93,498,904 (GRCm39) Y212F probably damaging Het
Asb16 A G 11: 102,167,303 (GRCm39) E223G probably damaging Het
Atg9b C T 5: 24,595,575 (GRCm39) V235M probably damaging Het
BB014433 A G 8: 15,092,304 (GRCm39) V183A probably benign Het
Brca1 T A 11: 101,414,367 (GRCm39) M1256L probably benign Het
Bst1 A G 5: 43,977,932 (GRCm39) I94V probably benign Het
C3ar1 A G 6: 122,827,599 (GRCm39) L206P probably benign Het
Cabs1 T A 5: 88,128,522 (GRCm39) M391K possibly damaging Het
Cars1 C T 7: 143,118,744 (GRCm39) R599Q probably damaging Het
Ccdc190 T A 1: 169,760,592 (GRCm39) Y73* probably null Het
Cd177 A C 7: 24,443,671 (GRCm39) L809W probably benign Het
Cemip C A 7: 83,600,805 (GRCm39) G939* probably null Het
Clca3b T A 3: 144,531,020 (GRCm39) I777F probably benign Het
Cma2 T C 14: 56,211,236 (GRCm39) I176T probably damaging Het
Col12a1 T A 9: 79,554,887 (GRCm39) T2064S probably damaging Het
Csf1r A G 18: 61,262,805 (GRCm39) N860S probably damaging Het
Dab1 T A 4: 104,369,461 (GRCm39) C3S probably benign Het
Dennd4b A G 3: 90,174,918 (GRCm39) E50G probably damaging Het
Dis3l A T 9: 64,214,795 (GRCm39) S925T probably benign Het
Disp1 T C 1: 182,868,076 (GRCm39) N1448S probably benign Het
Dpp10 T C 1: 123,264,580 (GRCm39) I747M probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Ephx4 A T 5: 107,551,522 (GRCm39) K36* probably null Het
Fam135a C T 1: 24,053,953 (GRCm39) V1195I probably damaging Het
Fap A T 2: 62,376,947 (GRCm39) Y234* probably null Het
Fem1c A T 18: 46,638,942 (GRCm39) N353K possibly damaging Het
Furin C A 7: 80,043,365 (GRCm39) R282L probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm5930 A G 14: 44,568,828 (GRCm39) *265Q probably null Het
Hcrtr1 T A 4: 130,031,379 (GRCm39) T15S probably benign Het
Ifnar1 C T 16: 91,296,425 (GRCm39) Q309* probably null Het
Il18r1 A T 1: 40,528,867 (GRCm39) I304L probably benign Het
Ino80 A T 2: 119,281,922 (GRCm39) Y185N probably damaging Het
Itgb2 G A 10: 77,395,507 (GRCm39) C536Y probably damaging Het
Ivns1abp T C 1: 151,236,744 (GRCm39) M435T probably benign Het
Lama3 T C 18: 12,628,405 (GRCm39) M1499T probably benign Het
Lamb1 A T 12: 31,373,461 (GRCm39) T1397S possibly damaging Het
Leng1 G A 7: 3,664,211 (GRCm39) R239* probably null Het
Map2k4 A T 11: 65,584,355 (GRCm39) N309K possibly damaging Het
Mcm3 A G 1: 20,873,768 (GRCm39) F784S probably damaging Het
Mrgpra9 T A 7: 46,884,884 (GRCm39) N260I probably benign Het
Mrnip C A 11: 50,090,679 (GRCm39) T281N possibly damaging Het
Myo9b A G 8: 71,808,501 (GRCm39) T1715A possibly damaging Het
Nectin3 A G 16: 46,269,184 (GRCm39) I406T possibly damaging Het
Neto1 A G 18: 86,516,699 (GRCm39) T339A possibly damaging Het
Ntn1 T C 11: 68,104,025 (GRCm39) D541G probably damaging Het
Nuak2 C A 1: 132,244,132 (GRCm39) H55Q probably damaging Het
Nufip2 A G 11: 77,582,439 (GRCm39) T118A probably benign Het
Or11i1 T G 3: 106,729,638 (GRCm39) N79T possibly damaging Het
Or12e7 T A 2: 87,288,271 (GRCm39) V254E probably damaging Het
Or51af1 T A 7: 103,141,858 (GRCm39) T76S probably damaging Het
Or52e19 C A 7: 102,959,000 (GRCm39) A24D probably benign Het
Or5d16 A T 2: 87,773,518 (GRCm39) Y151* probably null Het
Or5p59 T C 7: 107,702,774 (GRCm39) V86A probably benign Het
Or6d13 C T 6: 116,517,561 (GRCm39) T49M probably benign Het
Or7a40 A T 16: 16,491,784 (GRCm39) D20E probably benign Het
Or7g29 T C 9: 19,286,237 (GRCm39) *313W probably null Het
Pcdhb5 T A 18: 37,453,933 (GRCm39) H104Q probably benign Het
Phf11a T C 14: 59,514,986 (GRCm39) R232G probably damaging Het
Pik3r5 C T 11: 68,383,615 (GRCm39) T478I probably benign Het
Prkacb T A 3: 146,438,401 (GRCm39) E380V probably damaging Het
Prl7c1 G T 13: 27,957,776 (GRCm39) D221E probably damaging Het
Prr11 T A 11: 86,996,950 (GRCm39) K5* probably null Het
Prrc2b G A 2: 32,112,332 (GRCm39) G1932D probably damaging Het
Rexo1 A T 10: 80,378,845 (GRCm39) Y1064N possibly damaging Het
Rnf182 C T 13: 43,822,147 (GRCm39) Q233* probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sash1 C G 10: 8,605,291 (GRCm39) G1033A probably benign Het
Sncaip C A 18: 53,039,609 (GRCm39) S189* probably null Het
Sorl1 T C 9: 41,982,530 (GRCm39) Y350C probably damaging Het
Speg T C 1: 75,383,328 (GRCm39) V1141A possibly damaging Het
Speg C A 1: 75,406,167 (GRCm39) D3091E possibly damaging Het
Sucnr1 A T 3: 59,994,144 (GRCm39) D224V probably benign Het
Tg G A 15: 66,631,407 (GRCm39) A559T probably damaging Het
Tmem132d A G 5: 127,861,502 (GRCm39) I873T probably benign Het
Tmem229a C T 6: 24,954,920 (GRCm39) C278Y probably damaging Het
Togaram1 T C 12: 65,013,364 (GRCm39) I205T possibly damaging Het
Usp19 T A 9: 108,374,082 (GRCm39) L713Q probably damaging Het
Vsig10 A G 5: 117,489,824 (GRCm39) D530G possibly damaging Het
Zfp106 A G 2: 120,364,983 (GRCm39) S475P probably 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
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
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'- TGTAGGACAGTCCGGTTCTG -3'
(R):5'- CACTGAGAAACCTAGGAGGACC -3'

Sequencing Primer
(F):5'- GCCTCTTCGTGGACCTAAG -3'
(R):5'- TGAACGGGGATGCTCATGC -3'
Posted On 2018-06-22