Incidental Mutation 'R1862:Kcnh7'
ID 203993
Institutional Source Beutler Lab
Gene Symbol Kcnh7
Ensembl Gene ENSMUSG00000059742
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 7
Synonyms erg3, 9330137I11Rik, Kv11.3
MMRRC Submission 039885-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R1862 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 62524428-63014980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62618098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 464 (I464L)
Ref Sequence ENSEMBL: ENSMUSP00000108073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075052] [ENSMUST00000112452] [ENSMUST00000112454]
AlphaFold Q9ER47
Predicted Effect probably benign
Transcript: ENSMUST00000075052
AA Change: I464L

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: I464L

DomainStartEndE-ValueType
PAS 20 87 8.97e0 SMART
PAC 93 135 3.48e-1 SMART
Pfam:Ion_trans 407 674 4.9e-39 PFAM
Pfam:Ion_trans_2 588 668 3.2e-13 PFAM
cNMP 745 863 1.5e-23 SMART
low complexity region 921 940 N/A INTRINSIC
coiled coil region 1022 1058 N/A INTRINSIC
low complexity region 1114 1127 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112452
AA Change: I457L

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108071
Gene: ENSMUSG00000059742
AA Change: I457L

DomainStartEndE-ValueType
PAS 20 87 8.97e0 SMART
PAC 93 135 3.48e-1 SMART
Blast:MYSc 309 426 4e-24 BLAST
low complexity region 446 461 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112454
AA Change: I464L

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108073
Gene: ENSMUSG00000059742
AA Change: I464L

DomainStartEndE-ValueType
PAS 20 87 8.97e0 SMART
PAC 93 135 3.48e-1 SMART
Blast:MYSc 316 433 3e-24 BLAST
low complexity region 453 468 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T A 14: 8,241,416 (GRCm38) E565D probably benign Het
Adam30 A T 3: 98,069,429 (GRCm39) K421* probably null Het
Atp6v1b1 A G 6: 83,726,834 (GRCm39) probably null Het
Cacna1a A T 8: 85,142,559 (GRCm39) I96F possibly damaging Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Cdh8 T A 8: 99,917,026 (GRCm39) D363V probably damaging Het
Cecr2 T C 6: 120,734,902 (GRCm39) Y685H probably damaging Het
Cibar1 C T 4: 12,155,717 (GRCm39) V306I possibly damaging Het
Cmklr1 T C 5: 113,752,468 (GRCm39) T178A probably damaging Het
Col16a1 G A 4: 129,986,575 (GRCm39) probably null Het
Col4a1 C T 8: 11,276,439 (GRCm39) probably benign Het
Coro2a T A 4: 46,548,797 (GRCm39) I166F possibly damaging Het
Cry2 T C 2: 92,254,911 (GRCm39) H148R probably damaging Het
Crygd T C 1: 65,101,133 (GRCm39) Y154C probably benign Het
Cubn T C 2: 13,313,372 (GRCm39) Y3066C probably damaging Het
Defb15 C T 8: 22,420,002 (GRCm39) E42K possibly damaging Het
Dnah12 A G 14: 26,418,553 (GRCm39) D147G probably benign Het
Dnah12 A T 14: 26,430,412 (GRCm39) Y340F probably benign Het
Dot1l G T 10: 80,619,373 (GRCm39) R193L probably damaging Het
Dusp29 A G 14: 21,736,757 (GRCm39) V115A probably benign Het
Esd A C 14: 74,979,514 (GRCm39) Y119S probably damaging Het
Esp36 A G 17: 38,730,330 (GRCm39) probably benign Het
Etfbkmt T A 6: 149,045,649 (GRCm39) M1K probably null Het
Exph5 A G 9: 53,287,548 (GRCm39) H1543R probably benign Het
Fbxo16 A G 14: 65,508,252 (GRCm39) T23A probably damaging Het
Gorasp2 C A 2: 70,509,808 (GRCm39) H136Q probably damaging Het
Hdc T A 2: 126,439,853 (GRCm39) I367F probably benign Het
Hmcn1 C T 1: 150,514,651 (GRCm39) V3574M probably benign Het
Ilvbl A G 10: 78,419,958 (GRCm39) D592G probably benign Het
Inmt G A 6: 55,151,868 (GRCm39) A34V probably damaging Het
Ints9 A C 14: 65,263,862 (GRCm39) H378P probably benign Het
Kcnt2 T A 1: 140,353,068 (GRCm39) V259D probably damaging Het
Lipo3 A G 19: 33,762,092 (GRCm39) F135S probably damaging Het
Lrba T C 3: 86,680,510 (GRCm39) probably null Het
Mapk1 T A 16: 16,844,293 (GRCm39) S22T probably benign Het
Mbd3l2 T C 9: 18,356,217 (GRCm39) S181P possibly damaging Het
Mgat5 C T 1: 127,387,706 (GRCm39) P554L probably damaging Het
Mki67 T C 7: 135,301,090 (GRCm39) T1315A probably benign Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Mroh3 T A 1: 136,113,726 (GRCm39) I688F probably benign Het
Myo1d A T 11: 80,553,874 (GRCm39) Y536N probably damaging Het
Neb C T 2: 52,052,199 (GRCm39) probably null Het
Noc2l A G 4: 156,322,165 (GRCm39) R161G probably benign Het
Nup54 T A 5: 92,567,426 (GRCm39) I375L possibly damaging Het
Nup93 T C 8: 95,032,730 (GRCm39) F539L probably damaging Het
Or10x1 T A 1: 174,197,018 (GRCm39) H178Q probably damaging Het
Or2n1e A G 17: 38,586,235 (GRCm39) E191G probably damaging Het
Or5p57 A C 7: 107,665,932 (GRCm39) Y24* probably null Het
Or8b12 T A 9: 37,658,264 (GRCm39) M278K probably benign Het
Panx1 A T 9: 14,918,724 (GRCm39) D378E probably damaging Het
Papss1 T A 3: 131,288,945 (GRCm39) V170D possibly damaging Het
Pcnx1 T C 12: 81,965,506 (GRCm39) S558P probably damaging Het
Pde3a G T 6: 141,433,239 (GRCm39) A757S probably damaging Het
Pde3a T A 6: 141,196,079 (GRCm39) I255N probably damaging Het
Pdzph1 A G 17: 59,229,578 (GRCm39) Y1027H probably damaging Het
Pkhd1 G T 1: 20,621,244 (GRCm39) R805S probably benign Het
Polr1a G A 6: 71,886,187 (GRCm39) G14D probably damaging Het
Prg4 T A 1: 150,336,420 (GRCm39) D60V probably damaging Het
Ptgr3 T C 18: 84,113,443 (GRCm39) V373A possibly damaging Het
Ptprc T C 1: 138,039,965 (GRCm39) S311G probably benign Het
Rapgefl1 G A 11: 98,733,035 (GRCm39) R205K probably benign Het
Rcan2 A T 17: 44,347,980 (GRCm39) probably null Het
Rock1 A G 18: 10,079,207 (GRCm39) I1087T probably damaging Het
Sectm1b A G 11: 120,945,768 (GRCm39) I191T possibly damaging Het
Septin4 A G 11: 87,458,061 (GRCm39) H145R possibly damaging Het
Setd1b T C 5: 123,285,676 (GRCm39) S241P unknown Het
Slco1a8 T C 6: 141,949,149 (GRCm39) M76V possibly damaging Het
Srpk2 T C 5: 23,729,148 (GRCm39) K497R probably benign Het
Sspo T C 6: 48,467,940 (GRCm39) S4296P probably damaging Het
Syne4 T C 7: 30,016,308 (GRCm39) V168A probably benign Het
Tank T C 2: 61,480,256 (GRCm39) F264S probably damaging Het
Ticrr T C 7: 79,344,955 (GRCm39) S1607P probably damaging Het
Trim30a A G 7: 104,060,405 (GRCm39) V457A probably damaging Het
Trim43b T A 9: 88,967,624 (GRCm39) K336N probably damaging Het
Trim47 T C 11: 115,996,963 (GRCm39) Q598R probably damaging Het
Tspan12 T C 6: 21,851,022 (GRCm39) N18S probably damaging Het
Ubap2 A G 4: 41,221,607 (GRCm39) S231P probably benign Het
Vit A G 17: 78,930,175 (GRCm39) D380G probably damaging Het
Vmn2r2 T C 3: 64,041,942 (GRCm39) N258D possibly damaging Het
Vmn2r52 C T 7: 9,907,333 (GRCm39) C131Y possibly damaging Het
Zfp58 A T 13: 67,639,307 (GRCm39) F395I probably damaging Het
Zfp940 C A 7: 29,544,435 (GRCm39) G491C probably damaging Het
Other mutations in Kcnh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Kcnh7 APN 2 62,595,035 (GRCm39) missense probably benign 0.01
IGL00693:Kcnh7 APN 2 62,564,598 (GRCm39) missense probably benign 0.06
IGL00776:Kcnh7 APN 2 62,680,720 (GRCm39) missense probably benign 0.00
IGL00956:Kcnh7 APN 2 62,607,983 (GRCm39) missense probably damaging 1.00
IGL01651:Kcnh7 APN 2 62,564,628 (GRCm39) missense possibly damaging 0.47
IGL01780:Kcnh7 APN 2 62,667,507 (GRCm39) missense probably benign 0.17
IGL01859:Kcnh7 APN 2 62,552,132 (GRCm39) missense probably benign 0.00
IGL02213:Kcnh7 APN 2 62,569,706 (GRCm39) missense probably damaging 1.00
IGL02302:Kcnh7 APN 2 62,536,402 (GRCm39) missense probably damaging 1.00
IGL02526:Kcnh7 APN 2 62,680,781 (GRCm39) missense possibly damaging 0.46
IGL02850:Kcnh7 APN 2 62,618,029 (GRCm39) nonsense probably null
IGL02989:Kcnh7 APN 2 62,552,269 (GRCm39) missense probably benign
IGL02990:Kcnh7 APN 2 62,536,330 (GRCm39) missense probably benign 0.11
G1citation:Kcnh7 UTSW 2 62,618,248 (GRCm39) missense probably damaging 1.00
LCD18:Kcnh7 UTSW 2 62,880,143 (GRCm39) intron probably benign
R0129:Kcnh7 UTSW 2 62,546,503 (GRCm39) missense probably benign 0.00
R0622:Kcnh7 UTSW 2 62,667,633 (GRCm39) splice site probably null
R0638:Kcnh7 UTSW 2 62,607,854 (GRCm39) missense probably benign 0.13
R1006:Kcnh7 UTSW 2 62,546,527 (GRCm39) missense probably benign 0.00
R1200:Kcnh7 UTSW 2 62,607,739 (GRCm39) missense probably damaging 1.00
R1330:Kcnh7 UTSW 2 62,607,755 (GRCm39) missense possibly damaging 0.56
R1614:Kcnh7 UTSW 2 62,680,948 (GRCm39) missense probably benign 0.03
R1782:Kcnh7 UTSW 2 62,566,513 (GRCm39) missense probably damaging 1.00
R1861:Kcnh7 UTSW 2 62,607,736 (GRCm39) missense probably damaging 0.97
R2197:Kcnh7 UTSW 2 62,607,950 (GRCm39) missense probably damaging 1.00
R2510:Kcnh7 UTSW 2 62,552,261 (GRCm39) missense probably benign
R2988:Kcnh7 UTSW 2 62,552,172 (GRCm39) missense probably benign 0.20
R3024:Kcnh7 UTSW 2 62,595,007 (GRCm39) missense probably damaging 1.00
R3433:Kcnh7 UTSW 2 62,552,261 (GRCm39) missense probably benign
R4415:Kcnh7 UTSW 2 62,536,417 (GRCm39) missense probably damaging 1.00
R4540:Kcnh7 UTSW 2 62,569,530 (GRCm39) missense probably damaging 1.00
R4570:Kcnh7 UTSW 2 62,667,439 (GRCm39) missense possibly damaging 0.91
R4827:Kcnh7 UTSW 2 62,546,564 (GRCm39) missense probably benign
R4990:Kcnh7 UTSW 2 62,564,632 (GRCm39) missense probably benign 0.00
R5172:Kcnh7 UTSW 2 62,569,508 (GRCm39) missense possibly damaging 0.88
R5822:Kcnh7 UTSW 2 62,546,582 (GRCm39) missense probably benign
R5996:Kcnh7 UTSW 2 63,014,441 (GRCm39) start gained probably benign
R6142:Kcnh7 UTSW 2 62,569,704 (GRCm39) missense possibly damaging 0.95
R6226:Kcnh7 UTSW 2 62,607,903 (GRCm39) missense probably damaging 1.00
R6244:Kcnh7 UTSW 2 63,012,570 (GRCm39) missense probably damaging 1.00
R6304:Kcnh7 UTSW 2 62,594,960 (GRCm39) nonsense probably null
R6400:Kcnh7 UTSW 2 62,569,688 (GRCm39) missense probably damaging 1.00
R6430:Kcnh7 UTSW 2 62,680,876 (GRCm39) missense probably benign 0.04
R6483:Kcnh7 UTSW 2 62,676,118 (GRCm39) missense probably benign 0.06
R6614:Kcnh7 UTSW 2 62,607,940 (GRCm39) missense probably damaging 1.00
R6753:Kcnh7 UTSW 2 62,680,721 (GRCm39) missense probably benign
R6822:Kcnh7 UTSW 2 62,618,248 (GRCm39) missense probably damaging 1.00
R6863:Kcnh7 UTSW 2 62,618,029 (GRCm39) missense possibly damaging 0.83
R7104:Kcnh7 UTSW 2 62,618,031 (GRCm39) missense possibly damaging 0.82
R7116:Kcnh7 UTSW 2 62,707,614 (GRCm39) missense probably benign 0.02
R7263:Kcnh7 UTSW 2 62,566,314 (GRCm39) splice site probably null
R7657:Kcnh7 UTSW 2 62,566,379 (GRCm39) missense probably damaging 1.00
R7855:Kcnh7 UTSW 2 62,667,538 (GRCm39) nonsense probably null
R7968:Kcnh7 UTSW 2 62,566,444 (GRCm39) missense probably damaging 1.00
R8183:Kcnh7 UTSW 2 62,533,321 (GRCm39) missense probably damaging 0.99
R8343:Kcnh7 UTSW 2 62,680,879 (GRCm39) missense probably benign 0.01
R8405:Kcnh7 UTSW 2 62,533,446 (GRCm39) missense probably benign 0.04
R8411:Kcnh7 UTSW 2 62,594,952 (GRCm39) missense probably damaging 1.00
R8493:Kcnh7 UTSW 2 62,681,003 (GRCm39) missense probably benign 0.31
R8744:Kcnh7 UTSW 2 63,012,433 (GRCm39) missense possibly damaging 0.93
R8988:Kcnh7 UTSW 2 62,552,209 (GRCm39) missense
R9082:Kcnh7 UTSW 2 62,607,878 (GRCm39) missense probably damaging 1.00
R9206:Kcnh7 UTSW 2 62,607,947 (GRCm39) missense probably damaging 1.00
R9272:Kcnh7 UTSW 2 62,618,097 (GRCm39) missense probably damaging 0.99
R9382:Kcnh7 UTSW 2 62,667,612 (GRCm39) missense probably benign 0.01
R9674:Kcnh7 UTSW 2 62,595,060 (GRCm39) missense probably damaging 1.00
R9771:Kcnh7 UTSW 2 62,569,719 (GRCm39) missense probably damaging 1.00
X0011:Kcnh7 UTSW 2 62,595,067 (GRCm39) missense probably damaging 0.99
Z1088:Kcnh7 UTSW 2 63,014,412 (GRCm39) missense probably damaging 1.00
Z1088:Kcnh7 UTSW 2 62,566,447 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTTACCTCATCAGAACCTG -3'
(R):5'- TATAAGCTGCAGACGCCAC -3'

Sequencing Primer
(F):5'- GATCCAAAAATCAGCAAGTCAAAAGG -3'
(R):5'- TACAGTCCTTTCAAAGCAGTCTGGG -3'
Posted On 2014-06-23