Incidental Mutation 'IGL01859:Kcnh7'
ID178232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnh7
Ensembl Gene ENSMUSG00000059742
Gene Namepotassium voltage-gated channel, subfamily H (eag-related), member 7
SynonymsKv11.3, 9330137I11Rik, erg3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01859
Quality Score
Status
Chromosome2
Chromosomal Location62693414-63184287 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 62721788 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 953 (D953V)
Ref Sequence ENSEMBL: ENSMUSP00000074563 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075052]
Predicted Effect probably benign
Transcript: ENSMUST00000075052
AA Change: D953V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074563
Gene: ENSMUSG00000059742
AA Change: D953V

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 A G 9: 104,086,137 probably benign Het
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S probably benign Het
Other mutations in Kcnh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Kcnh7 APN 2 62764691 missense probably benign 0.01
IGL00693:Kcnh7 APN 2 62734254 missense probably benign 0.06
IGL00776:Kcnh7 APN 2 62850376 missense probably benign 0.00
IGL00956:Kcnh7 APN 2 62777639 missense probably damaging 1.00
IGL01651:Kcnh7 APN 2 62734284 missense possibly damaging 0.47
IGL01780:Kcnh7 APN 2 62837163 missense probably benign 0.17
IGL02213:Kcnh7 APN 2 62739362 missense probably damaging 1.00
IGL02302:Kcnh7 APN 2 62706058 missense probably damaging 1.00
IGL02526:Kcnh7 APN 2 62850437 missense possibly damaging 0.46
IGL02850:Kcnh7 APN 2 62787685 nonsense probably null
IGL02989:Kcnh7 APN 2 62721925 missense probably benign
IGL02990:Kcnh7 APN 2 62705986 missense probably benign 0.11
LCD18:Kcnh7 UTSW 2 63049799 intron probably benign
R0129:Kcnh7 UTSW 2 62716159 missense probably benign 0.00
R0622:Kcnh7 UTSW 2 62837289 splice site probably null
R0638:Kcnh7 UTSW 2 62777510 missense probably benign 0.13
R1006:Kcnh7 UTSW 2 62716183 missense probably benign 0.00
R1200:Kcnh7 UTSW 2 62777395 missense probably damaging 1.00
R1330:Kcnh7 UTSW 2 62777411 missense possibly damaging 0.56
R1614:Kcnh7 UTSW 2 62850604 missense probably benign 0.03
R1782:Kcnh7 UTSW 2 62736169 missense probably damaging 1.00
R1861:Kcnh7 UTSW 2 62777392 missense probably damaging 0.97
R1862:Kcnh7 UTSW 2 62787754 missense possibly damaging 0.46
R2197:Kcnh7 UTSW 2 62777606 missense probably damaging 1.00
R2510:Kcnh7 UTSW 2 62721917 missense probably benign
R2988:Kcnh7 UTSW 2 62721828 missense probably benign 0.20
R3024:Kcnh7 UTSW 2 62764663 missense probably damaging 1.00
R3433:Kcnh7 UTSW 2 62721917 missense probably benign
R4415:Kcnh7 UTSW 2 62706073 missense probably damaging 1.00
R4540:Kcnh7 UTSW 2 62739186 missense probably damaging 1.00
R4570:Kcnh7 UTSW 2 62837095 missense possibly damaging 0.91
R4827:Kcnh7 UTSW 2 62716220 missense probably benign
R4990:Kcnh7 UTSW 2 62734288 missense probably benign 0.00
R5172:Kcnh7 UTSW 2 62739164 missense possibly damaging 0.88
R5822:Kcnh7 UTSW 2 62716238 missense probably benign
R5996:Kcnh7 UTSW 2 63184097 start gained probably benign
R6142:Kcnh7 UTSW 2 62739360 missense possibly damaging 0.95
R6226:Kcnh7 UTSW 2 62777559 missense probably damaging 1.00
R6244:Kcnh7 UTSW 2 63182226 missense probably damaging 1.00
R6304:Kcnh7 UTSW 2 62764616 nonsense probably null
R6400:Kcnh7 UTSW 2 62739344 missense probably damaging 1.00
R6430:Kcnh7 UTSW 2 62850532 missense probably benign 0.04
R6483:Kcnh7 UTSW 2 62845774 missense probably benign 0.06
R6614:Kcnh7 UTSW 2 62777596 missense probably damaging 1.00
R6753:Kcnh7 UTSW 2 62850377 missense probably benign
R6822:Kcnh7 UTSW 2 62787904 missense probably damaging 1.00
R6863:Kcnh7 UTSW 2 62787685 missense possibly damaging 0.83
R7104:Kcnh7 UTSW 2 62787687 missense possibly damaging 0.82
R7116:Kcnh7 UTSW 2 62877270 missense probably benign 0.02
R7263:Kcnh7 UTSW 2 62735970 splice site probably null
R7657:Kcnh7 UTSW 2 62736035 missense probably damaging 1.00
R7855:Kcnh7 UTSW 2 62837194 nonsense probably null
R7938:Kcnh7 UTSW 2 62837194 nonsense probably null
X0011:Kcnh7 UTSW 2 62764723 missense probably damaging 0.99
Z1088:Kcnh7 UTSW 2 62736103 missense probably damaging 1.00
Z1088:Kcnh7 UTSW 2 63184068 missense probably damaging 1.00
Posted On2014-05-07