Incidental Mutation 'IGL02335:Kcnq4'
ID 289693
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 # IGL02335
Quality Score
Status
Chromosome 4
Chromosomal Location 120553331-120604687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120573051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 250 (L250P)
Ref Sequence ENSEMBL: ENSMUSP00000030376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030376]
AlphaFold Q9JK97
Predicted Effect probably damaging
Transcript: ENSMUST00000030376
AA Change: L250P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: L250P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129478
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C T 9: 99,502,266 (GRCm39) T142I probably benign Het
Aadacl2fm2 G A 3: 59,651,026 (GRCm39) M49I probably benign Het
Acaca A G 11: 84,105,084 (GRCm39) T147A possibly damaging Het
Agbl3 A G 6: 34,776,685 (GRCm39) D397G probably damaging Het
Ank1 C T 8: 23,625,654 (GRCm39) T1597M possibly damaging Het
Arl4d A G 11: 101,557,755 (GRCm39) T94A possibly damaging Het
Cd22 A G 7: 30,575,559 (GRCm39) I161T probably damaging Het
Clcn7 C T 17: 25,365,821 (GRCm39) L166F probably benign Het
Cnbd1 G T 4: 19,055,095 (GRCm39) N110K possibly damaging Het
Col14a1 A T 15: 55,327,165 (GRCm39) probably benign Het
Col6a6 C T 9: 105,661,300 (GRCm39) V270M probably damaging Het
Cox8b C A 7: 140,478,990 (GRCm39) G42W probably damaging Het
Csn1s1 A T 5: 87,828,704 (GRCm39) D275V probably benign Het
Cubn T A 2: 13,432,645 (GRCm39) probably null Het
Dctn2 T C 10: 127,111,690 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,604 (GRCm39) probably benign Het
Dpp4 T C 2: 62,164,988 (GRCm39) E687G probably benign Het
Fbxw20 T C 9: 109,052,377 (GRCm39) K249E possibly damaging Het
Fhl2 C T 1: 43,167,550 (GRCm39) W181* probably null Het
G2e3 T A 12: 51,415,941 (GRCm39) M559K probably benign Het
Gdap1l1 A T 2: 163,289,515 (GRCm39) Y160F possibly damaging Het
Gm1110 T C 9: 26,793,059 (GRCm39) I572M probably benign Het
Gpatch2l T A 12: 86,303,711 (GRCm39) probably benign Het
Lamc2 A T 1: 153,041,962 (GRCm39) N57K probably benign Het
Lingo1 A G 9: 56,527,365 (GRCm39) L408P probably damaging Het
Mmrn1 A T 6: 60,954,131 (GRCm39) N804I possibly damaging Het
Mroh7 A G 4: 106,564,979 (GRCm39) L545S probably damaging Het
Nup188 T A 2: 30,213,648 (GRCm39) probably null Het
Or10q1 A G 19: 13,727,298 (GRCm39) D276G probably benign Het
Or11a4 A G 17: 37,536,217 (GRCm39) N67S probably damaging Het
Or5b94 T C 19: 12,651,602 (GRCm39) I11T probably damaging Het
Pls1 A T 9: 95,666,236 (GRCm39) N138K probably benign Het
Prkch C A 12: 73,749,286 (GRCm39) N345K probably benign Het
Reps1 T C 10: 17,931,865 (GRCm39) probably null Het
Rrp7a T C 15: 83,006,892 (GRCm39) E15G probably benign Het
Scart2 A T 7: 139,876,453 (GRCm39) N526Y probably damaging Het
Scn1a T A 2: 66,108,005 (GRCm39) T1557S possibly damaging Het
Smtn T C 11: 3,476,215 (GRCm39) E602G probably damaging Het
Syvn1 T C 19: 6,100,123 (GRCm39) probably null Het
Tbxas1 A G 6: 39,000,014 (GRCm39) D267G probably damaging Het
Topbp1 A G 9: 103,205,722 (GRCm39) N787D probably damaging Het
Vmn2r22 T G 6: 123,615,051 (GRCm39) S180R probably damaging Het
Zfp345 T A 2: 150,316,463 (GRCm39) E48D possibly damaging Het
Zfp608 G A 18: 55,030,509 (GRCm39) Q1144* probably null Het
Zfp936 T A 7: 42,836,691 (GRCm39) L34Q probably damaging 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
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 2015-04-16