Incidental Mutation 'R5590:Kcnq4'
ID 437413
Institutional Source Beutler Lab
Gene Symbol Kcnq4
Ensembl Gene ENSMUSG00000028631
Gene Name potassium voltage-gated channel, subfamily Q, member 4
Synonyms
MMRRC Submission 043143-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.434) question?
Stock # R5590 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 120553331-120604687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120573082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 240 (I240F)
Ref Sequence ENSEMBL: ENSMUSP00000030376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030376]
AlphaFold Q9JK97
Predicted Effect probably damaging
Transcript: ENSMUST00000030376
AA Change: I240F

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: I240F

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
Meta Mutation Damage Score 0.8611 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (108/108)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik T G 4: 124,504,280 (GRCm39) M91L unknown Het
A2m C T 6: 121,653,891 (GRCm39) T1408M probably damaging Het
Abca16 C T 7: 120,143,995 (GRCm39) T1671M probably damaging Het
Adamts8 A T 9: 30,862,632 (GRCm39) N279I probably damaging Het
Adgre1 T A 17: 57,752,034 (GRCm39) I594N probably damaging Het
Aldh4a1 T A 4: 139,369,415 (GRCm39) V322E probably damaging Het
Atp12a A T 14: 56,610,837 (GRCm39) Y327F probably benign Het
C4b T C 17: 34,959,309 (GRCm39) T422A probably damaging Het
Cacna1c A T 6: 118,664,143 (GRCm39) S668T probably damaging Het
Cchcr1 A T 17: 35,837,577 (GRCm39) E426D probably damaging Het
Ccr3 G A 9: 123,828,830 (GRCm39) G55D probably damaging Het
Cdipt T A 7: 126,578,704 (GRCm39) probably null Het
Cep19 A G 16: 31,922,716 (GRCm39) probably benign Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cyp3a11 C A 5: 145,802,787 (GRCm39) M235I probably benign Het
Dnajc21 A T 15: 10,462,363 (GRCm39) D87E possibly damaging Het
Ell A C 8: 70,992,357 (GRCm39) M1L possibly damaging Het
Esyt3 T C 9: 99,240,466 (GRCm39) probably benign Het
Ets1 T C 9: 32,640,094 (GRCm39) probably benign Het
Fam222b T A 11: 78,045,858 (GRCm39) M473K probably benign Het
Fanca T C 8: 124,030,702 (GRCm39) probably benign Het
Fbrsl1 G T 5: 110,529,484 (GRCm39) A67D probably damaging Het
Fchsd1 G A 18: 38,094,380 (GRCm39) P622L probably damaging Het
Gal3st2c T G 1: 93,936,023 (GRCm39) probably null Het
Gins2 T G 8: 121,308,486 (GRCm39) H166P possibly damaging Het
Gm10118 A T 10: 63,762,845 (GRCm39) probably benign Het
Gm9979 A T 13: 40,859,289 (GRCm39) noncoding transcript Het
Hspbap1 A G 16: 35,622,033 (GRCm39) Y126C probably damaging Het
Hspd1 A T 1: 55,123,928 (GRCm39) I64N probably damaging Het
Igkv3-4 A T 6: 70,649,267 (GRCm39) S89C probably damaging Het
Il10ra T A 9: 45,176,924 (GRCm39) K134* probably null Het
Il12rb1 G A 8: 71,266,411 (GRCm39) C252Y possibly damaging Het
Il24 A T 1: 130,810,253 (GRCm39) V201E possibly damaging Het
Inpp1 A G 1: 52,833,820 (GRCm39) I92T probably damaging Het
Kcnh5 T C 12: 75,023,463 (GRCm39) D535G probably benign Het
Kctd17 G A 15: 78,321,502 (GRCm39) probably benign Het
Leo1 T A 9: 75,364,423 (GRCm39) I521N possibly damaging Het
Mdga1 A G 17: 30,058,841 (GRCm39) L722P probably damaging Het
Met G T 6: 17,548,781 (GRCm39) V942L probably benign Het
Mfn1 A T 3: 32,617,996 (GRCm39) T110S probably benign Het
Mrps15 T C 4: 125,942,488 (GRCm39) I79T probably benign Het
Mycbp2 A C 14: 103,360,791 (GRCm39) M4497R probably damaging Het
Mylk T A 16: 34,699,722 (GRCm39) S362T probably benign Het
Mypn A G 10: 62,955,827 (GRCm39) F1209L probably benign Het
Nab2 T C 10: 127,500,526 (GRCm39) S189G probably damaging Het
Naxe A C 3: 87,963,840 (GRCm39) probably null Het
Ncf1 A G 5: 134,252,355 (GRCm39) V232A probably damaging Het
Nell1 A G 7: 49,929,359 (GRCm39) Y422C probably damaging Het
Nmnat2 G T 1: 152,969,807 (GRCm39) G176V probably damaging Het
Npr1 A G 3: 90,362,149 (GRCm39) S999P probably damaging Het
Nuak1 T C 10: 84,211,119 (GRCm39) D323G probably benign Het
Or4d10b A G 19: 12,036,642 (GRCm39) V158A probably benign Het
Or5h23 A G 16: 58,906,360 (GRCm39) F162S probably benign Het
Or8b3b T A 9: 38,584,261 (GRCm39) T160S probably damaging Het
Osbpl8 T C 10: 111,108,029 (GRCm39) S342P probably damaging Het
Pag1 A T 3: 9,764,482 (GRCm39) Y224N probably damaging Het
Pald1 T A 10: 61,179,489 (GRCm39) H460L probably damaging Het
Per2 G A 1: 91,355,578 (GRCm39) Q727* probably null Het
Pex19 T C 1: 171,960,779 (GRCm39) V134A probably benign Het
Phlpp1 A T 1: 106,320,657 (GRCm39) I1551F possibly damaging Het
Ppef2 A T 5: 92,386,998 (GRCm39) V313D probably damaging Het
Prorp T C 12: 55,351,257 (GRCm39) S189P possibly damaging Het
Pzp A C 6: 128,500,759 (GRCm39) F153C probably damaging Het
Rasl11a A G 5: 146,782,052 (GRCm39) H9R probably benign Het
Rfx3 A T 19: 27,779,780 (GRCm39) probably null Het
Rmnd5b A T 11: 51,518,789 (GRCm39) I68N probably damaging Het
Senp5 T A 16: 31,808,331 (GRCm39) S281C probably damaging Het
Sh3rf1 G A 8: 61,814,766 (GRCm39) E442K probably benign Het
Slc12a3 G A 8: 95,072,416 (GRCm39) V645M probably damaging Het
Slc22a16 T C 10: 40,457,337 (GRCm39) F193L possibly damaging Het
Slc35f1 A T 10: 52,984,274 (GRCm39) T345S possibly damaging Het
Slc9a1 G A 4: 133,148,874 (GRCm39) R704H probably damaging Het
Spta1 A T 1: 174,003,336 (GRCm39) Y89F possibly damaging Het
Sspo A G 6: 48,451,425 (GRCm39) E2741G probably damaging Het
Strn4 G A 7: 16,567,799 (GRCm39) probably null Het
Tanc2 A G 11: 105,814,132 (GRCm39) T1859A probably damaging Het
Tbc1d14 A T 5: 36,682,389 (GRCm39) Y3N probably damaging Het
Tdrd9 C A 12: 112,018,414 (GRCm39) R1278S probably benign Het
Tenm4 C A 7: 96,446,608 (GRCm39) A826E possibly damaging Het
Tenm4 G T 7: 96,446,607 (GRCm39) A826S possibly damaging Het
Tet2 C T 3: 133,182,241 (GRCm39) probably null Het
Tfec A G 6: 16,834,199 (GRCm39) L236P probably benign Het
Tjap1 A G 17: 46,569,797 (GRCm39) S388P probably damaging Het
Tle1 T C 4: 72,043,208 (GRCm39) T554A possibly damaging Het
Tmem17 G A 11: 22,467,450 (GRCm39) V83I probably benign Het
Tnrc6b C T 15: 80,760,703 (GRCm39) H137Y probably damaging Het
Tomm5 T C 4: 45,106,679 (GRCm39) probably benign Het
Top3b T A 16: 16,709,441 (GRCm39) probably benign Het
Tph1 T C 7: 46,303,216 (GRCm39) H254R probably damaging Het
Tpte T C 8: 22,841,468 (GRCm39) Y487H probably damaging Het
Trappc13 T A 13: 104,284,749 (GRCm39) D241V probably damaging Het
Trrap A G 5: 144,719,075 (GRCm39) I193V probably benign Het
Tspear A T 10: 77,706,199 (GRCm39) H323L probably benign Het
Ttc39a A T 4: 109,290,184 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubg1 A G 11: 101,014,858 (GRCm39) D200G probably damaging Het
Ugdh C A 5: 65,580,217 (GRCm39) probably benign Het
Uso1 A G 5: 92,328,467 (GRCm39) N355D probably benign Het
Vamp4 T C 1: 162,420,248 (GRCm39) probably null Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vps52 A G 17: 34,180,195 (GRCm39) T300A probably benign Het
Wt1 A T 2: 104,957,629 (GRCm39) H163L probably damaging Het
Xirp2 T C 2: 67,344,379 (GRCm39) S2207P probably benign Het
Xpo6 A T 7: 125,706,250 (GRCm39) I30N probably damaging Het
Zfp386 T A 12: 116,023,347 (GRCm39) I320K 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
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
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
Predicted Primers PCR Primer
(F):5'- GAAGTGTCCAGGGATGCTTCTAG -3'
(R):5'- CCTGGGTTGAAGCCTGAAAG -3'

Sequencing Primer
(F):5'- CTTCTAGGGGTAAGGGCAGC -3'
(R):5'- TTGAAGCCTGAAAGATGGAGC -3'
Posted On 2016-10-26