Incidental Mutation 'IGL01996:Kcnq3'
ID182921
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnq3
Ensembl Gene ENSMUSG00000056258
Gene Namepotassium voltage-gated channel, subfamily Q, member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL01996
Quality Score
Status
Chromosome15
Chromosomal Location65986387-66286642 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 66023696 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 333 (I333T)
Ref Sequence ENSEMBL: ENSMUSP00000063380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070256]
Predicted Effect probably damaging
Transcript: ENSMUST00000070256
AA Change: I333T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063380
Gene: ENSMUSG00000056258
AA Change: I333T

DomainStartEndE-ValueType
low complexity region 8 32 N/A INTRINSIC
low complexity region 66 85 N/A INTRINSIC
Pfam:Ion_trans 122 364 9.9e-31 PFAM
Pfam:Ion_trans_2 268 357 3.4e-14 PFAM
Pfam:KCNQ_channel 448 658 1.4e-89 PFAM
Pfam:KCNQC3-Ank-G_bd 771 867 3.8e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183354
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,150,700 V29A possibly damaging Het
Adarb1 A G 10: 77,322,217 L132P probably damaging Het
Afg3l1 T G 8: 123,501,894 M733R probably damaging Het
Aox1 C T 1: 58,082,066 R899C probably benign Het
Arhgap44 T A 11: 65,005,496 probably benign Het
Asns T C 6: 7,682,378 D189G possibly damaging Het
Brap A G 5: 121,678,847 probably benign Het
Ccdc138 T A 10: 58,562,030 L564H probably damaging Het
Ccdc167 A G 17: 29,705,487 probably null Het
Ccdc178 A G 18: 22,097,756 Y353H probably damaging Het
Clca3b A T 3: 144,849,163 S41R probably benign Het
Dpep3 T C 8: 105,974,726 N397S probably damaging Het
Eif1 T C 11: 100,321,000 I83T probably benign Het
Enah A T 1: 181,956,505 W80R unknown Het
F2rl1 C T 13: 95,513,924 C150Y probably damaging Het
Fbxw24 T C 9: 109,605,372 R387G possibly damaging Het
Fsd1l A G 4: 53,647,760 T68A probably benign Het
Greb1 T C 12: 16,690,845 K1412R possibly damaging Het
Grin2b T C 6: 135,732,586 S1321G probably damaging Het
Hist1h4j G A 13: 21,735,138 G15S unknown Het
Itgb7 C T 15: 102,217,977 G508D probably damaging Het
Knl1 A G 2: 119,104,061 D2115G probably damaging Het
Lmtk3 G A 7: 45,793,447 probably null Het
Lrpprc A G 17: 84,773,270 Y176H probably benign Het
Mier1 T C 4: 103,127,276 S22P possibly damaging Het
Mme A T 3: 63,343,549 N337I probably benign Het
Mthfd1 A G 12: 76,303,905 Y687C probably damaging Het
Nrp2 T C 1: 62,749,260 M373T probably damaging Het
Nudcd1 A T 15: 44,405,961 F101Y probably benign Het
Nup133 T A 8: 123,946,595 I66L probably benign Het
Olfr1406 T C 1: 173,183,727 T236A probably benign Het
Olfr378 T A 11: 73,425,968 N5I probably damaging Het
Olfr736 T G 14: 50,393,659 M301R probably damaging Het
Osbpl5 A G 7: 143,707,344 probably null Het
Paqr8 T C 1: 20,935,404 F261L probably damaging Het
Plxna2 A G 1: 194,799,776 E1452G probably damaging Het
Polh T C 17: 46,173,001 D446G probably benign Het
Psg19 A T 7: 18,790,061 M353K possibly damaging Het
Sap25 T C 5: 137,641,818 probably null Het
Sap30l C T 11: 57,809,951 R144* probably null Het
Sema6b C T 17: 56,131,157 V144M probably damaging Het
Sfmbt2 T C 2: 10,440,026 Y228H probably benign Het
Shank2 A G 7: 144,411,493 D946G probably damaging Het
Slc11a1 T A 1: 74,376,806 L52Q possibly damaging Het
Sptlc3 T C 2: 139,581,504 probably benign Het
Tgfb1i1 T C 7: 128,249,292 probably benign Het
Tifa T C 3: 127,796,580 probably benign Het
Tomm40l C T 1: 171,219,655 V265M possibly damaging Het
Trim45 C A 3: 100,928,109 Y469* probably null Het
Ttc21a G T 9: 119,958,116 A730S probably damaging Het
Vmn1r18 A T 6: 57,390,016 D184E possibly damaging Het
Vmn2r120 A T 17: 57,525,222 I189N possibly damaging Het
Other mutations in Kcnq3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Kcnq3 APN 15 65995271 missense probably damaging 1.00
IGL00808:Kcnq3 APN 15 65995754 missense possibly damaging 0.49
IGL00969:Kcnq3 APN 15 66004726 missense probably damaging 1.00
IGL01121:Kcnq3 APN 15 66005977 splice site probably benign
IGL02153:Kcnq3 APN 15 66025191 missense probably damaging 0.96
IGL02950:Kcnq3 APN 15 66020293 missense probably benign 0.12
IGL02963:Kcnq3 APN 15 66285826 splice site probably benign
IGL03102:Kcnq3 APN 15 66028788 missense probably damaging 1.00
IGL03050:Kcnq3 UTSW 15 66025178 missense possibly damaging 0.52
R0345:Kcnq3 UTSW 15 66020305 missense possibly damaging 0.55
R0388:Kcnq3 UTSW 15 66000038 missense probably benign 0.00
R0730:Kcnq3 UTSW 15 65995608 missense probably benign
R1173:Kcnq3 UTSW 15 66000042 missense probably benign 0.01
R1610:Kcnq3 UTSW 15 66025260 missense probably damaging 1.00
R1678:Kcnq3 UTSW 15 66031432 missense probably damaging 1.00
R1714:Kcnq3 UTSW 15 66000063 missense probably benign 0.21
R1755:Kcnq3 UTSW 15 65995421 missense probably damaging 1.00
R1768:Kcnq3 UTSW 15 66005906 missense probably damaging 0.98
R1873:Kcnq3 UTSW 15 66002255 missense probably benign 0.16
R1925:Kcnq3 UTSW 15 66004809 missense possibly damaging 0.75
R1970:Kcnq3 UTSW 15 66028623 critical splice donor site probably null
R2140:Kcnq3 UTSW 15 66005978 splice site probably benign
R2141:Kcnq3 UTSW 15 65995851 missense probably benign 0.21
R2149:Kcnq3 UTSW 15 66023729 missense probably damaging 1.00
R2212:Kcnq3 UTSW 15 66020293 missense probably benign
R2272:Kcnq3 UTSW 15 66028680 missense probably damaging 1.00
R2566:Kcnq3 UTSW 15 66031427 missense probably damaging 1.00
R2909:Kcnq3 UTSW 15 66025236 missense possibly damaging 0.87
R3703:Kcnq3 UTSW 15 66021739 critical splice donor site probably null
R3704:Kcnq3 UTSW 15 66021739 critical splice donor site probably null
R3899:Kcnq3 UTSW 15 66030523 missense probably benign 0.01
R4096:Kcnq3 UTSW 15 66285815 intron probably null
R4421:Kcnq3 UTSW 15 65995511 missense probably benign 0.01
R4504:Kcnq3 UTSW 15 65995342 nonsense probably null
R4505:Kcnq3 UTSW 15 65995342 nonsense probably null
R4571:Kcnq3 UTSW 15 66030612 missense probably damaging 1.00
R4577:Kcnq3 UTSW 15 66286214 missense unknown
R4900:Kcnq3 UTSW 15 65995410 missense probably damaging 1.00
R4981:Kcnq3 UTSW 15 66031405 missense possibly damaging 0.84
R5015:Kcnq3 UTSW 15 66004763 missense probably damaging 1.00
R5049:Kcnq3 UTSW 15 66285897 missense probably benign 0.17
R5245:Kcnq3 UTSW 15 66031435 missense possibly damaging 0.89
R5334:Kcnq3 UTSW 15 66025224 missense probably damaging 1.00
R5528:Kcnq3 UTSW 15 66025178 missense probably damaging 0.97
R5532:Kcnq3 UTSW 15 65997773 nonsense probably null
R5630:Kcnq3 UTSW 15 66025122 missense probably damaging 1.00
R5639:Kcnq3 UTSW 15 65997750 missense probably damaging 0.96
R5936:Kcnq3 UTSW 15 66000110 missense probably damaging 1.00
R6306:Kcnq3 UTSW 15 66004794 missense probably benign 0.40
R6576:Kcnq3 UTSW 15 66025178 missense possibly damaging 0.52
R7006:Kcnq3 UTSW 15 66020316 nonsense probably null
R7403:Kcnq3 UTSW 15 66002217 missense probably damaging 1.00
X0060:Kcnq3 UTSW 15 66031386 missense probably damaging 1.00
Posted On2014-05-07