Incidental Mutation 'IGL02413:Kcnh6'
ID292337
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnh6
Ensembl Gene ENSMUSG00000001901
Gene Namepotassium voltage-gated channel, subfamily H (eag-related), member 6
Synonymsm-erg2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02413
Quality Score
Status
Chromosome11
Chromosomal Location106008124-106034549 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 106027634 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 823 (I823N)
Ref Sequence ENSEMBL: ENSMUSP00000001965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000106903] [ENSMUST00000145539]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001965
AA Change: I823N

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901
AA Change: I823N

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 possibly damaging
Transcript: ENSMUST00000106903
AA Change: I770N

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901
AA Change: I770N

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 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
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. 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Ctrc C A 4: 141,843,717 V71L possibly damaging Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Flna T C X: 74,241,282 E417G probably benign Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mnd1 T C 3: 84,116,479 H100R probably benign Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Olfr1395 T C 11: 49,148,557 L100P probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Tcl1 C A 12: 105,218,823 E43* probably null Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Usp17le T C 7: 104,769,726 N70D probably benign Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably damaging Het
Other mutations in Kcnh6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Kcnh6 APN 11 106019019 missense probably damaging 1.00
IGL01349:Kcnh6 APN 11 106023917 missense possibly damaging 0.82
IGL01529:Kcnh6 APN 11 106020696 missense probably benign 0.07
IGL01555:Kcnh6 APN 11 106017619 missense probably damaging 0.99
IGL01596:Kcnh6 APN 11 106026746 missense probably benign 0.02
IGL01808:Kcnh6 APN 11 106023927 splice site probably benign
IGL02001:Kcnh6 APN 11 106027549 splice site probably benign
IGL02131:Kcnh6 APN 11 106020175 missense probably damaging 1.00
IGL02254:Kcnh6 APN 11 106020707 missense probably damaging 1.00
R0089:Kcnh6 UTSW 11 106009022 missense probably benign 0.31
R1914:Kcnh6 UTSW 11 106017444 nonsense probably null
R1915:Kcnh6 UTSW 11 106017444 nonsense probably null
R2265:Kcnh6 UTSW 11 106033817 missense probably benign
R2325:Kcnh6 UTSW 11 106033835 missense probably benign 0.00
R4449:Kcnh6 UTSW 11 106018936 missense probably damaging 0.99
R4548:Kcnh6 UTSW 11 106009049 missense probably damaging 1.00
R5095:Kcnh6 UTSW 11 106017254 missense possibly damaging 0.92
R5166:Kcnh6 UTSW 11 106020319 missense possibly damaging 0.67
R5358:Kcnh6 UTSW 11 106027591 missense possibly damaging 0.93
R5445:Kcnh6 UTSW 11 106023859 missense probably damaging 1.00
R5652:Kcnh6 UTSW 11 106008985 missense probably damaging 1.00
R5708:Kcnh6 UTSW 11 106020256 missense probably benign 0.04
R5742:Kcnh6 UTSW 11 106009142 missense probably benign 0.32
R6035:Kcnh6 UTSW 11 106019152 critical splice donor site probably null
R6035:Kcnh6 UTSW 11 106019152 critical splice donor site probably null
R6150:Kcnh6 UTSW 11 106020731 missense possibly damaging 0.83
R6827:Kcnh6 UTSW 11 106009099 missense probably benign 0.05
R7172:Kcnh6 UTSW 11 106020274 missense possibly damaging 0.86
R7329:Kcnh6 UTSW 11 106017377 missense probably benign 0.29
R7359:Kcnh6 UTSW 11 106018963 missense possibly damaging 0.46
R7542:Kcnh6 UTSW 11 106014561 missense possibly damaging 0.68
R7571:Kcnh6 UTSW 11 106017416 missense probably benign 0.01
R7580:Kcnh6 UTSW 11 106017548 missense probably damaging 1.00
R7703:Kcnh6 UTSW 11 106023877 missense probably benign
R7726:Kcnh6 UTSW 11 106017575 missense probably benign 0.04
R7837:Kcnh6 UTSW 11 106033810 missense probably benign 0.04
R7854:Kcnh6 UTSW 11 106017346 missense probably damaging 1.00
R7971:Kcnh6 UTSW 11 106017527 missense probably damaging 1.00
R8218:Kcnh6 UTSW 11 106017374 missense possibly damaging 0.88
R8274:Kcnh6 UTSW 11 106020161 missense probably damaging 1.00
X0065:Kcnh6 UTSW 11 106025795 missense probably benign
Z1088:Kcnh6 UTSW 11 106009048 missense probably damaging 1.00
Posted On2015-04-16