Incidental Mutation 'IGL00776:Kcnh7'
ID 11558
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnh7
Ensembl Gene ENSMUSG00000059742
Gene Name potassium voltage-gated channel, subfamily H (eag-related), member 7
Synonyms erg3, 9330137I11Rik, Kv11.3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL00776
Quality Score
Status
Chromosome 2
Chromosomal Location 62524428-63014980 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62680720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 289 (I289T)
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: I289T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: I289T

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: I289T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108071
Gene: ENSMUSG00000059742
AA Change: I289T

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 probably benign
Transcript: ENSMUST00000112454
AA Change: I289T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108073
Gene: ENSMUSG00000059742
AA Change: I289T

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
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,545,182 (GRCm39) D90E probably benign Het
Abcb5 T C 12: 118,883,589 (GRCm39) S560G probably damaging Het
Ankrd24 A C 10: 81,478,979 (GRCm39) probably benign Het
Atp8a1 A T 5: 67,906,486 (GRCm39) I461N probably benign Het
Eif4a1 G A 11: 69,559,922 (GRCm39) L166F probably damaging Het
Herc1 T A 9: 66,328,320 (GRCm39) H1542Q probably benign Het
Itih4 G A 14: 30,611,561 (GRCm39) V95I probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Mterf1a A C 5: 3,941,809 (GRCm39) W20G possibly damaging Het
Slc24a5 T C 2: 124,922,809 (GRCm39) S161P probably damaging Het
Slc25a21 G A 12: 56,816,990 (GRCm39) T99I probably benign Het
Smurf1 A G 5: 144,818,584 (GRCm39) S619P probably benign Het
Sorbs1 C T 19: 40,332,795 (GRCm39) probably null Het
Strn4 C T 7: 16,564,377 (GRCm39) R185C probably damaging Het
Tctn3 A G 19: 40,585,865 (GRCm39) F560S 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
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
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
Posted On 2012-12-06