Incidental Mutation 'R1915:Kcnh6'
ID 214791
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 039933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1915 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 105898950-105925375 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 105908270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 295 (Y295*)
Ref Sequence ENSEMBL: ENSMUSP00000137675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000106903] [ENSMUST00000145539]
AlphaFold Q32ME0
Predicted Effect probably null
Transcript: ENSMUST00000001965
AA Change: Y295*
SMART Domains Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: Y295*

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 null
Transcript: ENSMUST00000106903
AA Change: Y295*
SMART Domains Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: Y295*

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 noncoding transcript
Transcript: ENSMUST00000140695
Predicted Effect probably null
Transcript: ENSMUST00000145539
AA Change: Y295*
SMART Domains Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901
AA Change: Y295*

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
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 100% (85/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Adam2 C A 14: 66,275,006 (GRCm39) V576F possibly damaging Het
Afmid T C 11: 117,726,625 (GRCm39) F250L possibly damaging Het
Apc2 A T 10: 80,151,701 (GRCm39) I2252L probably benign Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Btnl7-ps T A 17: 34,760,619 (GRCm39) noncoding transcript Het
Cdkn2aip T C 8: 48,164,961 (GRCm39) T251A probably benign Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Cfap54 A G 10: 92,720,564 (GRCm39) V2630A unknown Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cldn23 T A 8: 36,293,099 (GRCm39) I130F possibly damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Dcbld1 G T 10: 52,193,131 (GRCm39) C292F probably damaging Het
Dlgap5 T C 14: 47,645,230 (GRCm39) K304E probably benign Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exoc3 A G 13: 74,321,413 (GRCm39) probably null Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fahd1 A T 17: 25,068,622 (GRCm39) W152R possibly damaging Het
Farp2 T A 1: 93,456,424 (GRCm39) S36T probably benign Het
Foxs1 A G 2: 152,774,760 (GRCm39) C98R probably damaging Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gm8674 A T 13: 50,054,889 (GRCm39) noncoding transcript Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcna4 T C 2: 107,127,123 (GRCm39) V619A probably benign Het
Kif1b G A 4: 149,351,673 (GRCm39) T263I probably damaging Het
Large2 G T 2: 92,196,170 (GRCm39) probably benign Het
Lcp1 T A 14: 75,436,737 (GRCm39) Y28N possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mccc2 T C 13: 100,085,038 (GRCm39) probably null Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mlst8 C T 17: 24,696,264 (GRCm39) W155* probably null Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Nalcn C T 14: 123,540,181 (GRCm39) V1140I probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nup58 T C 14: 60,475,980 (GRCm39) K279R probably benign Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or11g1 C T 14: 50,651,798 (GRCm39) P266S probably damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Ptpn23 A T 9: 110,215,575 (GRCm39) D1396E probably damaging Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Stk36 T A 1: 74,673,346 (GRCm39) S1080T probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Uri1 A T 7: 37,661,103 (GRCm39) I480K probably damaging Het
Zcchc3 A C 2: 152,255,601 (GRCm39) V366G probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Zfp54 T C 17: 21,654,414 (GRCm39) Y303H probably benign Het
Zfp729b A G 13: 67,741,339 (GRCm39) F319L probably damaging Het
Zfp934 G A 13: 62,665,769 (GRCm39) H291Y probably 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
R2265:Kcnh6 UTSW 11 105,924,643 (GRCm39) missense probably benign
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'- TAGACCGGTCTTCCTAGCAG -3'
(R):5'- GCCACCATGTCAATGAGGAACC -3'

Sequencing Primer
(F):5'- TGCTGCCAGAGTACAAGCTG -3'
(R):5'- TGTCAATGAGGAACCAGCCCTTG -3'
Posted On 2014-07-14