Incidental Mutation 'IGL00330:Kcnq4'
ID332278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnq4
Ensembl Gene ENSMUSG00000028631
Gene Namepotassium voltage-gated channel, subfamily Q, member 4
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.376) question?
Stock #IGL00330
Quality Score
Status
Chromosome4
Chromosomal Location120696138-120748612 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 120698016 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 657 (Q657*)
Ref Sequence ENSEMBL: ENSMUSP00000030376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030376]
Predicted Effect probably null
Transcript: ENSMUST00000030376
AA Change: Q657*
SMART Domains Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: Q657*

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik T G 1: 193,174,779 D146E probably benign Het
Alpi A T 1: 87,099,720 L308Q probably damaging Het
Bhmt2 A T 13: 93,666,771 probably benign Het
Bsn T C 9: 108,115,340 E1071G probably damaging Het
Car3 A T 3: 14,868,379 N128Y probably benign Het
Cdkl2 C T 5: 92,017,377 probably null Het
Cul9 T C 17: 46,510,841 probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fam208b A G 13: 3,574,832 F1706S probably benign Het
Gm5771 T C 6: 41,394,773 L51P probably damaging Het
Gpr149 T G 3: 62,530,673 I688L probably damaging Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Kif19a G A 11: 114,779,585 G107D probably damaging Het
Loxhd1 A C 18: 77,395,450 R1242S probably damaging Het
Ms4a6c T C 19: 11,478,312 Y162H probably benign Het
Msrb2 G T 2: 19,371,699 R6L unknown Het
Mum1l1 A G X: 139,235,694 D327G probably damaging Het
Myh2 A G 11: 67,193,440 N1630D probably benign Het
Myrf A G 19: 10,224,513 V200A probably benign Het
Ncor2 A G 5: 125,042,743 probably null Het
Nrg1 T A 8: 31,818,089 Q621L probably damaging Het
Olfr1350 A T 7: 6,570,668 I226F possibly damaging Het
Olfr745 G A 14: 50,643,168 A296T probably benign Het
Pfkp A G 13: 6,619,550 F211S probably damaging Het
Prame T C X: 135,614,509 N273S probably benign Het
Rnh1 G A 7: 141,166,731 A49V possibly damaging Het
Serhl C T 15: 83,104,373 S167F probably benign Het
Skint1 T C 4: 112,021,580 probably null Het
Taar7b A C 10: 24,000,842 I302L probably benign Het
Zfp106 G A 2: 120,539,497 P15S probably benign Het
Zfp385b T C 2: 77,476,778 Q167R probably damaging Het
Zfp800 T A 6: 28,243,038 T643S probably benign Het
Other mutations in Kcnq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Kcnq4 APN 4 120698016 nonsense probably null
IGL00225:Kcnq4 APN 4 120698016 nonsense probably null
IGL00228:Kcnq4 APN 4 120698016 nonsense probably null
IGL00310:Kcnq4 APN 4 120698016 nonsense probably null
IGL00333:Kcnq4 APN 4 120698016 nonsense probably null
IGL00335:Kcnq4 APN 4 120698016 nonsense probably null
IGL00336:Kcnq4 APN 4 120698016 nonsense probably null
IGL01143:Kcnq4 APN 4 120698623 missense probably damaging 1.00
IGL01373:Kcnq4 APN 4 120717032 missense probably damaging 1.00
IGL02095:Kcnq4 APN 4 120700027 splice site probably benign
IGL02335:Kcnq4 APN 4 120715854 missense probably damaging 1.00
IGL03188:Kcnq4 APN 4 120704426 missense possibly damaging 0.81
R0045:Kcnq4 UTSW 4 120697955 missense probably damaging 0.99
R0045:Kcnq4 UTSW 4 120697955 missense probably damaging 0.99
R0423:Kcnq4 UTSW 4 120717508 missense probably damaging 1.00
R0483:Kcnq4 UTSW 4 120716601 missense probably damaging 1.00
R0837:Kcnq4 UTSW 4 120746861 missense probably benign 0.00
R1722:Kcnq4 UTSW 4 120702427 missense probably benign 0.00
R1826:Kcnq4 UTSW 4 120704504 missense probably benign 0.00
R2059:Kcnq4 UTSW 4 120698002 missense probably benign 0.00
R4327:Kcnq4 UTSW 4 120711364 missense probably benign 0.00
R4690:Kcnq4 UTSW 4 120717011 missense probably damaging 0.99
R4706:Kcnq4 UTSW 4 120704486 missense probably benign
R4729:Kcnq4 UTSW 4 120713074 missense possibly damaging 0.47
R4806:Kcnq4 UTSW 4 120713094 missense probably damaging 1.00
R4859:Kcnq4 UTSW 4 120716613 missense probably damaging 1.00
R4885:Kcnq4 UTSW 4 120713063 missense probably benign 0.01
R5073:Kcnq4 UTSW 4 120717517 missense probably damaging 1.00
R5517:Kcnq4 UTSW 4 120715809 missense possibly damaging 0.66
R5590:Kcnq4 UTSW 4 120715885 missense probably damaging 0.98
R5653:Kcnq4 UTSW 4 120702411 missense probably benign 0.00
R5750:Kcnq4 UTSW 4 120715049 missense probably damaging 1.00
R6141:Kcnq4 UTSW 4 120715869 missense probably damaging 1.00
R6160:Kcnq4 UTSW 4 120716559 missense probably damaging 1.00
R7087:Kcnq4 UTSW 4 120704399 missense probably damaging 0.96
R7088:Kcnq4 UTSW 4 120704399 missense probably damaging 0.96
R7143:Kcnq4 UTSW 4 120711239 missense probably benign 0.05
R7225:Kcnq4 UTSW 4 120746914 missense probably benign 0.03
R7479:Kcnq4 UTSW 4 120715825 missense probably damaging 0.98
X0020:Kcnq4 UTSW 4 120715327 missense probably damaging 1.00
Posted On2015-08-05