Incidental Mutation 'R5945:Kcnh4'
ID 460565
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 044137-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5945 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 100631202-100650768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100636148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 833 (D833G)
Ref Sequence ENSEMBL: ENSMUSP00000102986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107361] [ENSMUST00000107363]
AlphaFold A2A5F7
Predicted Effect probably damaging
Transcript: ENSMUST00000107361
AA Change: D833G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102984
Gene: ENSMUSG00000035355
AA Change: D833G

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: D833G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102986
Gene: ENSMUSG00000035355
AA Change: D833G

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 0.1278 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (101/101)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,601 (GRCm39) noncoding transcript Het
Abca13 C T 11: 9,243,398 (GRCm39) H1754Y probably benign Het
Abi1 T C 2: 22,929,977 (GRCm39) E34G probably damaging Het
Apobec3 C T 15: 79,782,047 (GRCm39) T19I probably damaging Het
Arel1 C A 12: 84,973,121 (GRCm39) V559L probably benign Het
Arhgef10 T C 8: 15,030,028 (GRCm39) probably null Het
Asb6 T C 2: 30,718,215 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,439 (GRCm39) V727A possibly damaging Het
Atp13a5 C A 16: 29,055,995 (GRCm39) R1100L probably benign Het
Atp6v1a A G 16: 43,920,309 (GRCm39) V429A probably damaging Het
Caml A G 13: 55,776,445 (GRCm39) Y228C probably damaging Het
Ccdc14 A G 16: 34,543,958 (GRCm39) E772G probably damaging Het
Ccdc96 A G 5: 36,643,194 (GRCm39) E400G probably damaging Het
Ces1h T A 8: 94,090,254 (GRCm39) E266V probably benign Het
Chd5 G T 4: 152,464,408 (GRCm39) Q1522H probably benign Het
CN725425 T A 15: 91,129,980 (GRCm39) I281N possibly damaging Het
Cngb3 A T 4: 19,283,579 (GRCm39) E62V probably null Het
Cops5 T A 1: 10,108,235 (GRCm39) probably benign Het
Crhr2 T A 6: 55,077,667 (GRCm39) I232F possibly damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Ddx31 T A 2: 28,749,902 (GRCm39) I308N probably damaging Het
Efcab14 T A 4: 115,613,664 (GRCm39) V204D probably damaging Het
Emsy T C 7: 98,268,590 (GRCm39) T484A probably damaging Het
Ep400 A T 5: 110,830,732 (GRCm39) I2257N unknown Het
Epb41l4a T A 18: 33,961,783 (GRCm39) Q420L possibly damaging Het
Fat4 A G 3: 39,037,355 (GRCm39) D3669G probably benign Het
Fmnl2 C A 2: 53,004,211 (GRCm39) T607K probably damaging Het
Glod4 T C 11: 76,125,297 (GRCm39) Y135C probably damaging Het
Gm10912 A G 2: 103,896,961 (GRCm39) I33M possibly damaging Het
Gm5592 T C 7: 40,865,036 (GRCm39) probably benign Het
Gria4 A G 9: 4,456,122 (GRCm39) L726P probably damaging Het
H2-M10.4 T C 17: 36,771,518 (GRCm39) E220G probably benign Het
Itga1 T G 13: 115,103,126 (GRCm39) N1102H probably benign Het
Itpk1 A G 12: 102,554,812 (GRCm39) I6T probably damaging Het
Kdm1a T C 4: 136,296,012 (GRCm39) probably null Het
Kif24 G A 4: 41,428,670 (GRCm39) Q97* probably null Het
Klhl2 T C 8: 65,202,762 (GRCm39) I479V probably benign Het
Large1 T C 8: 73,578,828 (GRCm39) Y459C probably damaging Het
Lcn8 T G 2: 25,545,509 (GRCm39) L169R probably damaging Het
Loxl3 T G 6: 83,014,492 (GRCm39) S133R probably damaging Het
Lyzl4 A G 9: 121,413,529 (GRCm39) Y4H unknown Het
Marchf7 A G 2: 60,071,331 (GRCm39) K612E probably damaging Het
Mreg C T 1: 72,231,359 (GRCm39) G33D probably benign Het
Ms4a6c A C 19: 11,457,863 (GRCm39) probably benign Het
Nrbf2 G A 10: 67,103,299 (GRCm39) S268F possibly damaging Het
Oog4 T A 4: 143,164,293 (GRCm39) I341F probably benign Het
Or4k5 A G 14: 50,386,220 (GRCm39) V37A probably benign Het
Or5h26 A G 16: 58,988,482 (GRCm39) L8P probably benign Het
Or5h27 C T 16: 59,006,091 (GRCm39) V252I unknown Het
Or5l14 A T 2: 87,792,946 (GRCm39) C97S probably damaging Het
Pcdhb5 G A 18: 37,454,523 (GRCm39) R301Q probably benign Het
Podn T C 4: 107,878,910 (GRCm39) K174R possibly damaging Het
Pphln1 T C 15: 93,353,413 (GRCm39) probably null Het
Ppp2r1a C G 17: 21,179,675 (GRCm39) H112D possibly damaging Het
Prmt5 A G 14: 54,752,344 (GRCm39) F151L possibly damaging Het
Ptch1 A T 13: 63,721,233 (GRCm39) probably benign Het
Rgl2 A G 17: 34,151,012 (GRCm39) probably null Het
Ryr2 A T 13: 11,675,008 (GRCm39) I3373N probably damaging Het
Scap A G 9: 110,213,664 (GRCm39) N1209S probably benign Het
Sin3b T C 8: 73,457,793 (GRCm39) S170P probably damaging Het
Slc22a4 A T 11: 53,886,854 (GRCm39) I296N probably damaging Het
Slco1a8 T A 6: 141,940,008 (GRCm39) N145I probably damaging Het
Slco2a1 T C 9: 102,923,989 (GRCm39) S68P probably damaging Het
Snx8 A G 5: 140,339,235 (GRCm39) C161R probably benign Het
Spryd3 C T 15: 102,026,630 (GRCm39) C347Y probably benign Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Strn3 T C 12: 51,676,279 (GRCm39) T333A probably benign Het
Swt1 T A 1: 151,286,921 (GRCm39) E190D probably benign Het
Tchh A T 3: 93,352,644 (GRCm39) I695F unknown Het
Tfap4 G A 16: 4,363,493 (GRCm39) S314L possibly damaging Het
Tigd3 G T 19: 5,941,894 (GRCm39) T412K probably benign Het
Tmem184b T A 15: 79,249,681 (GRCm39) probably null Het
Trpa1 T C 1: 14,968,359 (GRCm39) D469G probably benign Het
Tssk1 T C 16: 17,712,565 (GRCm39) F117L probably damaging Het
Tuba3b T A 6: 145,565,471 (GRCm39) M313K probably damaging Het
Tubgcp6 T C 15: 88,993,420 (GRCm39) probably null Het
Vav1 A G 17: 57,608,870 (GRCm39) K345E possibly damaging Het
Zdhhc4 G A 5: 143,310,641 (GRCm39) R64C probably damaging Het
Zfp280d T A 9: 72,269,614 (GRCm39) L892* probably null Het
Zfp46 T A 4: 136,014,528 (GRCm39) M3K probably damaging Het
Zfp607b C A 7: 27,401,841 (GRCm39) P99Q probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp990 T A 4: 145,264,613 (GRCm39) I537N 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
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'- TGTGTACTCCTAGGATGGCAG -3'
(R):5'- GCCTTTCCAACCACAGCTTG -3'

Sequencing Primer
(F):5'- TACTCCTAGGATGGCAGGGAAC -3'
(R):5'- ACAGCTTGCAAATCCCATTCTG -3'
Posted On 2017-02-28