Incidental Mutation 'R2265:Kcnh6'
ID 244099
Institutional Source Beutler Lab
Gene Symbol Kcnh6
Ensembl Gene ENSMUSG00000001901
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 6
Synonyms m-erg2
MMRRC Submission 040265-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2265 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 105898950-105925375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105924643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 816 (R816Q)
Ref Sequence ENSEMBL: ENSMUSP00000102516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000058438] [ENSMUST00000106903] [ENSMUST00000145539]
AlphaFold Q32ME0
Predicted Effect probably benign
Transcript: ENSMUST00000001965
AA Change: R869Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: R869Q

DomainStartEndE-ValueType
Blast:PAS 13 87 2e-43 BLAST
PAC 93 135 4.06e-2 SMART
low complexity region 139 152 N/A INTRINSIC
low complexity region 158 173 N/A INTRINSIC
Pfam:Ion_trans 256 523 6.8e-40 PFAM
Pfam:Ion_trans_2 445 517 2.6e-13 PFAM
cNMP 594 712 3.21e-23 SMART
coiled coil region 782 809 N/A INTRINSIC
low complexity region 901 912 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058438
SMART Domains Protein: ENSMUSP00000058168
Gene: ENSMUSG00000049354

DomainStartEndE-ValueType
WD40 58 99 3.42e1 SMART
WD40 104 149 1.43e1 SMART
WD40 163 205 3.81e-5 SMART
WD40 211 251 1.1e2 SMART
WD40 255 295 8.88e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106891
Predicted Effect probably benign
Transcript: ENSMUST00000106903
AA Change: R816Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: R816Q

DomainStartEndE-ValueType
Blast:PAS 13 87 3e-43 BLAST
PAC 93 135 4.06e-2 SMART
low complexity region 139 152 N/A INTRINSIC
low complexity region 158 173 N/A INTRINSIC
transmembrane domain 258 280 N/A INTRINSIC
Pfam:Ion_trans 302 420 6.2e-10 PFAM
Pfam:Ion_trans_2 395 464 2.6e-9 PFAM
cNMP 541 659 3.21e-23 SMART
coiled coil region 729 756 N/A INTRINSIC
low complexity region 848 859 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145539
SMART Domains Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901

DomainStartEndE-ValueType
Blast:PAS 13 87 3e-43 BLAST
PAC 93 135 4.06e-2 SMART
low complexity region 139 152 N/A INTRINSIC
low complexity region 158 173 N/A INTRINSIC
transmembrane domain 261 283 N/A INTRINSIC
Pfam:Ion_trans 302 511 1.4e-22 PFAM
Pfam:Ion_trans_2 442 517 2e-13 PFAM
cNMP 594 712 3.21e-23 SMART
low complexity region 764 775 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 12,042,328 (GRCm39) probably null Het
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Abca16 A G 7: 120,030,383 (GRCm39) D165G probably benign Het
Adam24 T A 8: 41,133,110 (GRCm39) S193T possibly damaging Het
Adra2b T C 2: 127,205,791 (GRCm39) S103P probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Alg11 T A 8: 22,555,630 (GRCm39) V255E probably benign Het
Aox1 C A 1: 58,120,679 (GRCm39) D857E probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bdkrb2 A G 12: 105,558,484 (GRCm39) T242A probably benign Het
Cdca7 T C 2: 72,312,834 (GRCm39) L190P probably benign Het
Cenpe A G 3: 134,967,397 (GRCm39) T2180A probably benign Het
Cep41 T A 6: 30,660,915 (GRCm39) I126F possibly damaging Het
Col16a1 C A 4: 129,946,711 (GRCm39) H111Q probably benign Het
Cops3 T C 11: 59,718,716 (GRCm39) T193A probably benign Het
Dbr1 G A 9: 99,461,463 (GRCm39) V153M probably damaging Het
Ddx4 A G 13: 112,757,810 (GRCm39) Y290H probably benign Het
Dgkb T A 12: 38,240,107 (GRCm39) S461R possibly damaging Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Dock3 C A 9: 106,818,525 (GRCm39) V1190F probably damaging Het
Exosc1 A G 19: 41,919,857 (GRCm39) S54P probably damaging Het
Fbxw22 C T 9: 109,213,062 (GRCm39) R295K probably benign Het
Foxo1 T C 3: 52,253,333 (GRCm39) S499P probably benign Het
Heatr5a T C 12: 51,940,528 (GRCm39) D1444G possibly damaging Het
Hspa2 T G 12: 76,452,962 (GRCm39) I552S probably benign Het
Imp4 T A 1: 34,482,928 (GRCm39) I173N probably damaging Het
Itgal A G 7: 126,905,873 (GRCm39) I352V possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnip3 G T 2: 127,306,981 (GRCm39) A173D probably benign Het
Kir3dl1 A G X: 135,425,784 (GRCm39) R53G probably benign Het
Klhl31 A G 9: 77,557,440 (GRCm39) D52G possibly damaging Het
Klk1b21 T C 7: 43,753,863 (GRCm39) I49T possibly damaging Het
Lama2 T A 10: 26,868,932 (GRCm39) I2838F probably damaging Het
Lilrb4a T A 10: 51,367,633 (GRCm39) Y58* probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mpdz A G 4: 81,301,628 (GRCm39) S266P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mroh7 T C 4: 106,578,124 (GRCm39) N185D probably benign Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Mycbp2 T C 14: 103,500,185 (GRCm39) D937G probably benign Het
Myo18b A G 5: 112,930,539 (GRCm39) M1799T probably damaging Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
Or10ak16 A T 4: 118,751,071 (GRCm39) R264W probably damaging Het
Or2m12 A G 16: 19,105,305 (GRCm39) Y63H probably damaging Het
Or4f54 A G 2: 111,123,524 (GRCm39) T304A probably benign Het
Or51f1d G A 7: 102,701,344 (GRCm39) V280I probably benign Het
Or52n20 T C 7: 104,320,067 (GRCm39) F53L probably benign Het
Or8k28 T C 2: 86,286,558 (GRCm39) Y19C possibly damaging Het
Ovch2 A T 7: 107,383,782 (GRCm39) M521K probably damaging Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Pcdhb19 A T 18: 37,630,736 (GRCm39) H177L probably damaging Het
Phf8 T C X: 150,355,597 (GRCm39) L520S possibly damaging Het
Pjvk T G 2: 76,487,797 (GRCm39) S230A possibly damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Rad9b T C 5: 122,489,405 (GRCm39) Y41C probably damaging Het
Ranbp3l A T 15: 9,057,194 (GRCm39) I286F probably damaging Het
Rtel1 T A 2: 180,996,161 (GRCm39) V739D probably damaging Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spg11 A T 2: 121,938,788 (GRCm39) C389S possibly damaging Het
Srsf4 T C 4: 131,624,993 (GRCm39) V130A probably damaging Het
Taar8b T C 10: 23,967,270 (GRCm39) N308S probably damaging Het
Tas2r117 T A 6: 132,780,188 (GRCm39) C109S probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Ttc21a G T 9: 119,788,074 (GRCm39) C833F possibly damaging Het
Vash2 T C 1: 190,682,410 (GRCm39) N347D probably damaging Het
Vcp G A 4: 42,980,833 (GRCm39) A759V possibly damaging Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Zfp616 T C 11: 73,976,289 (GRCm39) Y853H possibly damaging Het
Other mutations in Kcnh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Kcnh6 APN 11 105,909,845 (GRCm39) missense probably damaging 1.00
IGL01349:Kcnh6 APN 11 105,914,743 (GRCm39) missense possibly damaging 0.82
IGL01529:Kcnh6 APN 11 105,911,522 (GRCm39) missense probably benign 0.07
IGL01555:Kcnh6 APN 11 105,908,445 (GRCm39) missense probably damaging 0.99
IGL01596:Kcnh6 APN 11 105,917,572 (GRCm39) missense probably benign 0.02
IGL01808:Kcnh6 APN 11 105,914,753 (GRCm39) splice site probably benign
IGL02001:Kcnh6 APN 11 105,918,375 (GRCm39) splice site probably benign
IGL02131:Kcnh6 APN 11 105,911,001 (GRCm39) missense probably damaging 1.00
IGL02254:Kcnh6 APN 11 105,911,533 (GRCm39) missense probably damaging 1.00
IGL02413:Kcnh6 APN 11 105,918,460 (GRCm39) missense possibly damaging 0.77
R0089:Kcnh6 UTSW 11 105,899,848 (GRCm39) missense probably benign 0.31
R1914:Kcnh6 UTSW 11 105,908,270 (GRCm39) nonsense probably null
R1915:Kcnh6 UTSW 11 105,908,270 (GRCm39) nonsense probably null
R2325:Kcnh6 UTSW 11 105,924,661 (GRCm39) missense probably benign 0.00
R4449:Kcnh6 UTSW 11 105,909,762 (GRCm39) missense probably damaging 0.99
R4548:Kcnh6 UTSW 11 105,899,875 (GRCm39) missense probably damaging 1.00
R5095:Kcnh6 UTSW 11 105,908,080 (GRCm39) missense possibly damaging 0.92
R5166:Kcnh6 UTSW 11 105,911,145 (GRCm39) missense possibly damaging 0.67
R5358:Kcnh6 UTSW 11 105,918,417 (GRCm39) missense possibly damaging 0.93
R5445:Kcnh6 UTSW 11 105,914,685 (GRCm39) missense probably damaging 1.00
R5652:Kcnh6 UTSW 11 105,899,811 (GRCm39) missense probably damaging 1.00
R5708:Kcnh6 UTSW 11 105,911,082 (GRCm39) missense probably benign 0.04
R5742:Kcnh6 UTSW 11 105,899,968 (GRCm39) missense probably benign 0.32
R6035:Kcnh6 UTSW 11 105,909,978 (GRCm39) critical splice donor site probably null
R6035:Kcnh6 UTSW 11 105,909,978 (GRCm39) critical splice donor site probably null
R6150:Kcnh6 UTSW 11 105,911,557 (GRCm39) missense possibly damaging 0.83
R6827:Kcnh6 UTSW 11 105,899,925 (GRCm39) missense probably benign 0.05
R7172:Kcnh6 UTSW 11 105,911,100 (GRCm39) missense possibly damaging 0.86
R7329:Kcnh6 UTSW 11 105,908,203 (GRCm39) missense probably benign 0.29
R7359:Kcnh6 UTSW 11 105,909,789 (GRCm39) missense possibly damaging 0.46
R7542:Kcnh6 UTSW 11 105,905,387 (GRCm39) missense possibly damaging 0.68
R7571:Kcnh6 UTSW 11 105,908,242 (GRCm39) missense probably benign 0.01
R7580:Kcnh6 UTSW 11 105,908,374 (GRCm39) missense probably damaging 1.00
R7703:Kcnh6 UTSW 11 105,914,703 (GRCm39) missense probably benign
R7726:Kcnh6 UTSW 11 105,908,401 (GRCm39) missense probably benign 0.04
R7837:Kcnh6 UTSW 11 105,924,636 (GRCm39) missense probably benign 0.04
R7854:Kcnh6 UTSW 11 105,908,172 (GRCm39) missense probably damaging 1.00
R7971:Kcnh6 UTSW 11 105,908,353 (GRCm39) missense probably damaging 1.00
R8218:Kcnh6 UTSW 11 105,908,200 (GRCm39) missense possibly damaging 0.88
R8274:Kcnh6 UTSW 11 105,910,987 (GRCm39) missense probably damaging 1.00
R8351:Kcnh6 UTSW 11 105,911,062 (GRCm39) missense probably damaging 0.99
R8991:Kcnh6 UTSW 11 105,909,971 (GRCm39) missense possibly damaging 0.65
R9042:Kcnh6 UTSW 11 105,908,464 (GRCm39) missense possibly damaging 0.46
R9272:Kcnh6 UTSW 11 105,924,860 (GRCm39) missense possibly damaging 0.93
R9273:Kcnh6 UTSW 11 105,924,860 (GRCm39) missense possibly damaging 0.93
R9274:Kcnh6 UTSW 11 105,924,860 (GRCm39) missense possibly damaging 0.93
R9428:Kcnh6 UTSW 11 105,899,821 (GRCm39) missense probably damaging 1.00
X0065:Kcnh6 UTSW 11 105,916,621 (GRCm39) missense probably benign
Z1088:Kcnh6 UTSW 11 105,899,874 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCACATGTACTTGACTTATGCATG -3'
(R):5'- ATTCCAGCTGCTTGGGAACG -3'

Sequencing Primer
(F):5'- cacacacacacaccacaA -3'
(R):5'- CTGCTTGGGAACGGAGCTG -3'
Posted On 2014-10-16