Incidental Mutation 'IGL00164:Kcnq4'
ID 362012
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 # IGL00164
Quality Score
Status
Chromosome 4
Chromosomal Location 120553331-120604687 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 120555213 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JK97
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,471,477 (GRCm39) probably benign Het
Abcg4 A G 9: 44,186,439 (GRCm39) probably benign Het
Actr2 A G 11: 20,030,015 (GRCm39) probably benign Het
Adgrb3 A G 1: 25,267,581 (GRCm39) L843P probably benign Het
Cdk19 G A 10: 40,312,161 (GRCm39) D137N probably benign Het
Cuedc2 T A 19: 46,320,359 (GRCm39) I71F probably damaging Het
Dag1 A G 9: 108,086,487 (GRCm39) V218A probably damaging Het
Dlg5 A C 14: 24,208,532 (GRCm39) S868R possibly damaging Het
Ecsit C T 9: 21,984,310 (GRCm39) G340D probably benign Het
Fkbp8 A G 8: 70,987,211 (GRCm39) M358V probably damaging Het
Gckr G A 5: 31,456,920 (GRCm39) V79M probably damaging Het
Gpd1 C A 15: 99,618,532 (GRCm39) D172E probably benign Het
Josd2 T C 7: 44,120,740 (GRCm39) probably benign Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Notch1 G A 2: 26,350,058 (GRCm39) R2361W probably damaging Het
Or5w1 T C 2: 87,486,582 (GRCm39) M228V probably benign Het
Palb2 A C 7: 121,720,271 (GRCm39) probably benign Het
Pan2 C T 10: 128,148,795 (GRCm39) Q452* probably null Het
Pcnx1 T C 12: 81,941,875 (GRCm39) V91A probably damaging Het
Rgs22 T A 15: 36,100,077 (GRCm39) I213F possibly damaging Het
Serpina3b G T 12: 104,105,046 (GRCm39) W407C probably benign Het
Sf3b2 T C 19: 5,329,615 (GRCm39) D687G probably benign Het
Slc8a3 T C 12: 81,361,343 (GRCm39) E492G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Surf1 C T 2: 26,803,584 (GRCm39) probably null Het
Tmem190 T C 7: 4,785,998 (GRCm39) probably benign Het
Zfhx2 A G 14: 55,302,483 (GRCm39) S1834P possibly damaging Het
Zfp607a G A 7: 27,577,214 (GRCm39) E95K possibly damaging Het
Other mutations in Kcnq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03188:Kcnq4 APN 4 120,561,623 (GRCm39) missense possibly damaging 0.81
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 2015-12-18