Incidental Mutation 'R6035:Kcnh6'
ID 486524
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 044207-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6035 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105898950-105925375 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 105909978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000106903] [ENSMUST00000145539]
AlphaFold Q32ME0
Predicted Effect probably null
Transcript: ENSMUST00000001965
SMART Domains Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901

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
SMART Domains Protein: ENSMUSP00000102516
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 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 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 84% (62/74)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G T 6: 121,615,353 (GRCm39) G76W probably damaging Het
Abca17 A T 17: 24,500,219 (GRCm39) F1324Y possibly damaging Het
Abca8b A T 11: 109,862,686 (GRCm39) probably null Het
Abcc12 A G 8: 87,244,033 (GRCm39) M1040T probably damaging Het
Abtb1 A G 6: 88,818,788 (GRCm39) F7L probably damaging Het
Adcy9 T C 16: 4,122,377 (GRCm39) T558A probably benign Het
Adgrb1 A T 15: 74,412,292 (GRCm39) T424S possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ankrd31 C A 13: 96,968,721 (GRCm39) P786Q probably benign Het
Arhgap39 G T 15: 76,621,424 (GRCm39) Y392* probably null Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Carmil2 G T 8: 106,419,195 (GRCm39) W749L probably benign Het
Ccar1 A G 10: 62,587,564 (GRCm39) Y867H unknown Het
Cdh13 A G 8: 119,232,437 (GRCm39) D47G probably benign Het
Chst9 T A 18: 15,585,910 (GRCm39) T218S probably benign Het
Clec2i G A 6: 128,870,587 (GRCm39) V67I probably benign Het
Cox7a2 T A 9: 79,667,028 (GRCm39) probably benign Het
Cplx3 A G 9: 57,519,030 (GRCm39) probably null Het
Cpz A G 5: 35,674,929 (GRCm39) C107R probably damaging Het
Dapk1 T A 13: 60,909,013 (GRCm39) C1209S possibly damaging Het
Ddx41 T C 13: 55,681,781 (GRCm39) M307V probably benign Het
Defa24 A G 8: 22,224,565 (GRCm39) I5V probably benign Het
Dgcr8 A T 16: 18,076,178 (GRCm39) N2K probably damaging Het
Ebf2 A G 14: 67,476,423 (GRCm39) D131G probably damaging Het
Fam149b C T 14: 20,427,985 (GRCm39) R424C probably damaging Het
Fbln2 G A 6: 91,240,335 (GRCm39) V714M probably damaging Het
Fgf5 T C 5: 98,423,385 (GRCm39) Y257H probably damaging Het
Fmo3 A C 1: 162,791,605 (GRCm39) V224G probably damaging Het
Gigyf2 T C 1: 87,338,450 (GRCm39) I394T possibly damaging Het
Glmn T A 5: 107,741,746 (GRCm39) probably null Het
Greb1l T C 18: 10,501,025 (GRCm39) I385T possibly damaging Het
Grhl1 C A 12: 24,658,449 (GRCm39) Q365K probably benign Het
Gsdme G A 6: 50,206,306 (GRCm39) T179M probably damaging Het
Gtf2a1l A G 17: 89,018,962 (GRCm39) T349A probably benign Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Il5ra G A 6: 106,718,226 (GRCm39) T76I probably damaging Het
Itga8 T C 2: 12,196,525 (GRCm39) T631A probably benign Het
Krt26 C T 11: 99,224,415 (GRCm39) E368K probably benign Het
Lhx9 T C 1: 138,766,281 (GRCm39) D169G possibly damaging Het
Lmod3 A G 6: 97,224,234 (GRCm39) L529P probably damaging Het
Nup155 A G 15: 8,173,577 (GRCm39) T891A probably benign Het
Or11g24 A G 14: 50,661,984 (GRCm39) T3A probably benign Het
Or1e1 T C 11: 73,244,582 (GRCm39) M1T probably null Het
Or1j13 T A 2: 36,369,996 (GRCm39) I49F probably damaging Het
Or1p4-ps1 T C 11: 74,208,285 (GRCm39) *145R probably null Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G C 12: 83,821,454 (GRCm39) G262A probably damaging Het
Pdcd1lg2 G A 19: 29,423,435 (GRCm39) V160I probably benign Het
Pde8b A G 13: 95,164,105 (GRCm39) probably benign Het
Ppme1 G A 7: 100,004,002 (GRCm39) R68* probably null Het
Prob1 T C 18: 35,787,835 (GRCm39) S140G probably benign Het
Ptprn2 A T 12: 117,219,215 (GRCm39) N949Y probably damaging Het
Qser1 C A 2: 104,617,468 (GRCm39) D1115Y probably damaging Het
Rad54l G T 4: 115,954,666 (GRCm39) D674E probably damaging Het
Ripk4 T A 16: 97,545,387 (GRCm39) D420V probably damaging Het
Ros1 G T 10: 51,954,067 (GRCm39) S1857R probably benign Het
Rsf1 A G 7: 97,311,316 (GRCm39) E682G probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Samd4 G A 14: 47,325,329 (GRCm39) R515H probably damaging Het
Selp T A 1: 163,969,079 (GRCm39) W560R probably benign Het
Shc3 A T 13: 51,615,468 (GRCm39) L163Q probably damaging Het
Shh G A 5: 28,666,397 (GRCm39) A163V probably damaging Het
Slc17a8 T C 10: 89,427,937 (GRCm39) R113G possibly damaging Het
Slc5a6 C A 5: 31,206,168 (GRCm39) probably benign Het
Smarcd2 A G 11: 106,157,715 (GRCm39) probably null Het
Sytl3 A G 17: 6,995,664 (GRCm39) D148G probably damaging Het
Tnks G T 8: 35,385,615 (GRCm39) H297Q possibly damaging Het
Trbv21 A T 6: 41,179,568 (GRCm39) probably benign Het
Ube3c T C 5: 29,806,161 (GRCm39) F268L probably benign Het
Ugt2b5 T C 5: 87,287,541 (GRCm39) I209V probably benign Het
Usp1 A G 4: 98,818,082 (GRCm39) N140S probably damaging Het
Vcam1 T C 3: 115,919,606 (GRCm39) Y226C probably damaging Het
Vmn1r129 T A 7: 21,094,534 (GRCm39) Q228L probably damaging Het
Vmn1r209 T A 13: 22,990,202 (GRCm39) N163Y probably benign Het
Vmn1r85 A G 7: 12,818,854 (GRCm39) S97P probably damaging Het
Vmn2r30 C T 7: 7,337,350 (GRCm39) M95I probably benign Het
Vmn2r74 G A 7: 85,601,098 (GRCm39) R847C probably damaging Het
Wdr70 G A 15: 7,916,830 (GRCm39) T529I possibly damaging Het
Zfp532 T G 18: 65,757,005 (GRCm39) S313A possibly damaging Het
Zhx3 A T 2: 160,621,463 (GRCm39) N901K probably benign 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
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
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'- AAGCACTATAACGGCAGCG -3'
(R):5'- TTGGCTGGCCTGTTACCATC -3'

Sequencing Primer
(F):5'- TATAACGGCAGCGACCCAG -3'
(R):5'- TCCTGGAACTAGCTCTGTAGACCAG -3'
Posted On 2017-08-16