Incidental Mutation 'R1006:Kcnh7'
ID 95716
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 039116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R1006 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 62524428-63014980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62546527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1018 (V1018A)
Ref Sequence ENSEMBL: ENSMUSP00000074563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075052]
AlphaFold Q9ER47
Predicted Effect probably benign
Transcript: ENSMUST00000075052
AA Change: V1018A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: V1018A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 97.8%
  • 10x: 93.4%
  • 20x: 82.9%
Validation Efficiency 100% (43/43)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,911,085 (GRCm39) I282N probably benign Het
Akr1c18 T C 13: 4,186,654 (GRCm39) I265V probably benign Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Arfgef1 T C 1: 10,210,706 (GRCm39) I1788V probably benign Het
Cacng7 T A 7: 3,415,445 (GRCm39) I270N possibly damaging Het
Ccdc81 C T 7: 89,515,769 (GRCm39) E637K probably benign Het
Cnbd2 A G 2: 156,170,328 (GRCm39) I138V possibly damaging Het
Cntnap5b A G 1: 100,311,342 (GRCm39) K983E probably benign Het
Col14a1 T C 15: 55,383,331 (GRCm39) S1770P probably benign Het
Cpsf6 A T 10: 117,201,973 (GRCm39) probably benign Het
Ctsc G A 7: 87,959,037 (GRCm39) R439H probably damaging Het
Dcun1d1 A G 3: 35,951,930 (GRCm39) probably benign Het
Flg2 A G 3: 93,108,514 (GRCm39) I181V probably benign Het
Gbp2 A T 3: 142,343,183 (GRCm39) S567C probably damaging Het
Gm5114 A G 7: 39,058,510 (GRCm39) S370P probably damaging Het
Kmt2a G A 9: 44,758,993 (GRCm39) A952V probably damaging Het
Krt1 C T 15: 101,756,326 (GRCm39) E340K possibly damaging Het
Lim2 T A 7: 43,084,826 (GRCm39) I141N probably damaging Het
Nlrp4a T C 7: 26,152,892 (GRCm39) V654A probably benign Het
Or5b24 T A 19: 12,912,638 (GRCm39) C179S probably damaging Het
Prr14l T C 5: 32,986,826 (GRCm39) S890G probably benign Het
Psmd14 T A 2: 61,627,726 (GRCm39) probably null Het
Ptpn13 A G 5: 103,734,655 (GRCm39) D2129G probably benign Het
Pum1 C T 4: 130,499,199 (GRCm39) T760M probably damaging Het
Rif1 A G 2: 51,975,041 (GRCm39) I317V probably damaging Het
Sh3bgrl2 C T 9: 83,459,684 (GRCm39) probably benign Het
Slfn8 A T 11: 82,894,337 (GRCm39) H767Q possibly damaging Het
Sned1 G A 1: 93,184,114 (GRCm39) G114D probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Tenm3 A T 8: 48,681,577 (GRCm39) D2684E probably damaging Het
Tet2 T C 3: 133,182,362 (GRCm39) T1201A possibly damaging Het
Vax2 T C 6: 83,714,759 (GRCm39) S225P probably damaging Het
Vcan A G 13: 89,833,196 (GRCm39) probably null Het
Washc5 T A 15: 59,241,035 (GRCm39) Q100L probably benign Het
Washc5 G T 15: 59,241,036 (GRCm39) Q100K probably benign Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zmiz1 A G 14: 25,663,404 (GRCm39) Y1051C unknown Het
Zswim2 G A 2: 83,745,737 (GRCm39) S567L 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
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
R1862:Kcnh7 UTSW 2 62,618,098 (GRCm39) missense possibly damaging 0.46
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'- GGTTGCTTGATGGCAAAAGTATCCTG -3'
(R):5'- TGTGTGGCCTAAGAAAACACCCC -3'

Sequencing Primer
(F):5'- GACCACTGATTTACCTGTTAAGTTG -3'
(R):5'- CTGGCTCTTAAGTCAAAGATTCTGG -3'
Posted On 2014-01-05