Incidental Mutation 'IGL03188:Kcnq4'
ID 412540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnq4
Ensembl Gene ENSMUSG00000028631
Gene Name potassium voltage-gated channel, subfamily Q, member 4
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.434) question?
Stock # IGL03188
Quality Score
Status
Chromosome 4
Chromosomal Location 120553331-120604687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120561623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 482 (K482I)
Ref Sequence ENSEMBL: ENSMUSP00000030376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030376]
AlphaFold Q9JK97
Predicted Effect possibly damaging
Transcript: ENSMUST00000030376
AA Change: K482I

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: K482I

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 36 77 N/A INTRINSIC
Pfam:Ion_trans 99 331 1.2e-28 PFAM
Pfam:Ion_trans_2 244 324 5.4e-16 PFAM
Pfam:KCNQ_channel 465 655 1.6e-93 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,425,656 (GRCm39) C1202F probably damaging Het
Ago2 C T 15: 72,995,182 (GRCm39) V466I probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aptx A T 4: 40,695,143 (GRCm39) probably null Het
Aurka A T 2: 172,205,688 (GRCm39) D123E possibly damaging Het
Btaf1 T C 19: 36,926,508 (GRCm39) I60T possibly damaging Het
Ccdc154 A T 17: 25,383,067 (GRCm39) probably null Het
Cct5 T C 15: 31,598,148 (GRCm39) N55S probably benign Het
Cntnap3 A G 13: 64,929,559 (GRCm39) S547P probably damaging Het
Efl1 T A 7: 82,320,909 (GRCm39) I114N probably damaging Het
Gprin1 T C 13: 54,886,465 (GRCm39) D603G probably benign Het
Il16 A G 7: 83,337,371 (GRCm39) S115P probably benign Het
Kalrn C A 16: 34,134,562 (GRCm39) V401L probably benign Het
L3mbtl3 C T 10: 26,218,515 (GRCm39) A114T unknown Het
Lig1 G A 7: 13,045,032 (GRCm39) probably benign Het
Lnx1 G A 5: 74,780,924 (GRCm39) T199M probably damaging Het
Mapk13 A G 17: 28,995,557 (GRCm39) probably benign Het
Mfsd2b A T 12: 4,916,538 (GRCm39) probably null Het
Mrpl3 A G 9: 104,934,264 (GRCm39) D137G probably benign Het
Muc15 A G 2: 110,562,044 (GRCm39) D160G probably benign Het
Myh4 T C 11: 67,137,369 (GRCm39) probably null Het
Nipa2 T G 7: 55,582,680 (GRCm39) N355T probably benign Het
Or11h4 A T 14: 50,974,315 (GRCm39) Y101* probably null Het
Or2v2 T C 11: 49,004,536 (GRCm39) N6D probably damaging Het
Or51a43 A G 7: 103,717,945 (GRCm39) S98P possibly damaging Het
Or5p60 T C 7: 107,723,841 (GRCm39) T210A probably benign Het
Pfkm G T 15: 98,021,124 (GRCm39) probably null Het
Ppip5k1 A G 2: 121,157,327 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,857 (GRCm39) D244G possibly damaging Het
Rimoc1 A G 15: 4,018,187 (GRCm39) Y163H probably damaging Het
Scn2a T C 2: 65,501,997 (GRCm39) S107P probably damaging Het
Scn5a A T 9: 119,351,632 (GRCm39) I783N probably damaging Het
Snx1 A G 9: 66,001,734 (GRCm39) W307R probably damaging Het
Spata31g1 A G 4: 42,971,225 (GRCm39) Y186C possibly damaging Het
Stk11ip G A 1: 75,511,079 (GRCm39) V928M probably benign Het
Tgm4 A G 9: 122,874,101 (GRCm39) M114V probably null Het
Trpm2 G A 10: 77,754,743 (GRCm39) R1248C probably benign Het
Txnrd1 T C 10: 82,720,880 (GRCm39) I347T possibly damaging Het
Unc5a A G 13: 55,147,316 (GRCm39) S106G probably damaging Het
Vmn2r85 T C 10: 130,254,612 (GRCm39) M691V probably benign Het
Zfp58 T A 13: 67,639,528 (GRCm39) Q321L probably benign Het
Other mutations in Kcnq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00225:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00228:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00310:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00330:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00333:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00335:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL00336:Kcnq4 APN 4 120,555,213 (GRCm39) nonsense probably null
IGL01143:Kcnq4 APN 4 120,555,820 (GRCm39) missense probably damaging 1.00
IGL01373:Kcnq4 APN 4 120,574,229 (GRCm39) missense probably damaging 1.00
IGL02095:Kcnq4 APN 4 120,557,224 (GRCm39) splice site probably benign
IGL02335:Kcnq4 APN 4 120,573,051 (GRCm39) missense probably damaging 1.00
R0045:Kcnq4 UTSW 4 120,555,152 (GRCm39) missense probably damaging 0.99
R0045:Kcnq4 UTSW 4 120,555,152 (GRCm39) missense probably damaging 0.99
R0423:Kcnq4 UTSW 4 120,574,705 (GRCm39) missense probably damaging 1.00
R0483:Kcnq4 UTSW 4 120,573,798 (GRCm39) missense probably damaging 1.00
R0837:Kcnq4 UTSW 4 120,604,058 (GRCm39) missense probably benign 0.00
R1722:Kcnq4 UTSW 4 120,559,624 (GRCm39) missense probably benign 0.00
R1826:Kcnq4 UTSW 4 120,561,701 (GRCm39) missense probably benign 0.00
R2059:Kcnq4 UTSW 4 120,555,199 (GRCm39) missense probably benign 0.00
R4327:Kcnq4 UTSW 4 120,568,561 (GRCm39) missense probably benign 0.00
R4690:Kcnq4 UTSW 4 120,574,208 (GRCm39) missense probably damaging 0.99
R4706:Kcnq4 UTSW 4 120,561,683 (GRCm39) missense probably benign
R4729:Kcnq4 UTSW 4 120,570,271 (GRCm39) missense possibly damaging 0.47
R4806:Kcnq4 UTSW 4 120,570,291 (GRCm39) missense probably damaging 1.00
R4859:Kcnq4 UTSW 4 120,573,810 (GRCm39) missense probably damaging 1.00
R4885:Kcnq4 UTSW 4 120,570,260 (GRCm39) missense probably benign 0.01
R5073:Kcnq4 UTSW 4 120,574,714 (GRCm39) missense probably damaging 1.00
R5517:Kcnq4 UTSW 4 120,573,006 (GRCm39) missense possibly damaging 0.66
R5590:Kcnq4 UTSW 4 120,573,082 (GRCm39) missense probably damaging 0.98
R5653:Kcnq4 UTSW 4 120,559,608 (GRCm39) missense probably benign 0.00
R5750:Kcnq4 UTSW 4 120,572,246 (GRCm39) missense probably damaging 1.00
R6141:Kcnq4 UTSW 4 120,573,066 (GRCm39) missense probably damaging 1.00
R6160:Kcnq4 UTSW 4 120,573,756 (GRCm39) missense probably damaging 1.00
R7087:Kcnq4 UTSW 4 120,561,596 (GRCm39) missense probably damaging 0.96
R7088:Kcnq4 UTSW 4 120,561,596 (GRCm39) missense probably damaging 0.96
R7143:Kcnq4 UTSW 4 120,568,436 (GRCm39) missense probably benign 0.05
R7225:Kcnq4 UTSW 4 120,604,111 (GRCm39) missense probably benign 0.03
R7479:Kcnq4 UTSW 4 120,573,022 (GRCm39) missense probably damaging 0.98
R7574:Kcnq4 UTSW 4 120,568,565 (GRCm39) missense probably benign
R7879:Kcnq4 UTSW 4 120,559,632 (GRCm39) missense probably benign 0.13
R7980:Kcnq4 UTSW 4 120,568,494 (GRCm39) missense probably benign 0.02
R9007:Kcnq4 UTSW 4 120,555,150 (GRCm39) missense probably benign 0.01
R9421:Kcnq4 UTSW 4 120,573,868 (GRCm39) missense possibly damaging 0.48
R9468:Kcnq4 UTSW 4 120,568,494 (GRCm39) missense probably benign 0.02
R9774:Kcnq4 UTSW 4 120,573,076 (GRCm39) missense probably damaging 0.99
X0020:Kcnq4 UTSW 4 120,572,524 (GRCm39) missense probably damaging 1.00
Z1176:Kcnq4 UTSW 4 120,555,694 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02