Incidental Mutation 'R4690:Kcnq4'
ID 354827
Institutional Source Beutler Lab
Gene Symbol Kcnq4
Ensembl Gene ENSMUSG00000028631
Gene Name potassium voltage-gated channel, subfamily Q, member 4
Synonyms
MMRRC Submission 041941-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.434) question?
Stock # R4690 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 120553331-120604687 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120574208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 150 (I150N)
Ref Sequence ENSEMBL: ENSMUSP00000030376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030376]
AlphaFold Q9JK97
Predicted Effect probably damaging
Transcript: ENSMUST00000030376
AA Change: I150N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030376
Gene: ENSMUSG00000028631
AA Change: I150N

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 98% (89/91)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,039,706 (GRCm39) F436L probably damaging Het
Adam28 G T 14: 68,879,497 (GRCm39) Q184K probably benign Het
Adh6a A G 3: 138,031,932 (GRCm39) T275A possibly damaging Het
Agap2 A G 10: 126,927,244 (GRCm39) D1082G possibly damaging Het
Alox5 A T 6: 116,400,150 (GRCm39) V263E probably damaging Het
Arhgef16 C T 4: 154,372,420 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc188 T A 16: 18,036,159 (GRCm39) H111Q probably damaging Het
Cd40 T C 2: 164,911,615 (GRCm39) F209S possibly damaging Het
Cfap43 C A 19: 47,736,298 (GRCm39) V1398L probably benign Het
Cln3 A T 7: 126,174,565 (GRCm39) I286N possibly damaging Het
Col9a1 T C 1: 24,263,787 (GRCm39) probably null Het
Cpne9 A G 6: 113,279,016 (GRCm39) E470G probably damaging Het
Cul5 A T 9: 53,534,171 (GRCm39) W654R probably damaging Het
Cyp2a22 T A 7: 26,638,634 (GRCm39) K51* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dot1l C A 10: 80,622,016 (GRCm39) S556* probably null Het
Eif3d A T 15: 77,851,516 (GRCm39) M98K probably benign Het
Fiz1 A G 7: 5,012,167 (GRCm39) V117A probably benign Het
Fryl A G 5: 73,257,636 (GRCm39) V722A probably benign Het
Ftdc1 G A 16: 58,434,333 (GRCm39) T128I probably benign Het
Gm3095 G T 14: 3,964,471 (GRCm38) R63I probably benign Het
Gm7133 A T 1: 97,197,224 (GRCm39) noncoding transcript Het
Hoxb8 A T 11: 96,175,286 (GRCm39) D241V probably benign Het
Hrnr A G 3: 93,230,959 (GRCm39) Q399R unknown Het
Itpk1 A T 12: 102,572,434 (GRCm39) V93D probably damaging Het
Kars1 C T 8: 112,729,216 (GRCm39) A164T probably benign Het
Kcnrg A T 14: 61,849,176 (GRCm39) L212F probably damaging Het
Kif5b A T 18: 6,216,759 (GRCm39) D521E probably benign Het
Klf11 C T 12: 24,705,071 (GRCm39) T158M probably damaging Het
Klhl6 T C 16: 19,776,034 (GRCm39) I175V probably benign Het
Lsm1 A G 8: 26,283,708 (GRCm39) N40S probably damaging Het
Map1b T C 13: 99,567,576 (GRCm39) E1715G unknown Het
Mecom C A 3: 30,292,459 (GRCm39) A4S probably benign Het
Muc5b G A 7: 141,396,031 (GRCm39) V96M unknown Het
Mug2 A T 6: 122,013,255 (GRCm39) I341L probably benign Het
Mxra7 A T 11: 116,707,078 (GRCm39) probably null Het
Myo5a T C 9: 75,061,105 (GRCm39) L537P probably damaging Het
Myo5b A T 18: 74,855,533 (GRCm39) N1241Y probably damaging Het
Naa16 T C 14: 79,582,497 (GRCm39) R531G probably damaging Het
Neb T A 2: 52,134,087 (GRCm39) M3299L probably benign Het
Nlrp4b T A 7: 10,453,130 (GRCm39) Y76N probably benign Het
Nmral1 T C 16: 4,534,205 (GRCm39) T79A probably damaging Het
Noct C T 3: 51,155,300 (GRCm39) Q23* probably null Het
Nrxn1 A T 17: 90,344,509 (GRCm39) V438D probably damaging Het
Or5b109 A C 19: 13,212,132 (GRCm39) N173H possibly damaging Het
Or5m9 T A 2: 85,877,242 (GRCm39) C139S probably damaging Het
Oxct2a T C 4: 123,216,836 (GRCm39) T182A probably benign Het
Pank2 T C 2: 131,115,945 (GRCm39) I121T probably damaging Het
Pcdh1 T A 18: 38,336,528 (GRCm39) T36S probably benign Het
Pfdn1 A T 18: 36,584,133 (GRCm39) M67K possibly damaging Het
Plec T C 15: 76,058,456 (GRCm39) E3849G probably damaging Het
Polr3a A T 14: 24,514,349 (GRCm39) S817T possibly damaging Het
Pomgnt1 T A 4: 116,012,707 (GRCm39) D401E probably damaging Het
Ppp1r13b T A 12: 111,798,992 (GRCm39) D891V probably damaging Het
Prr14l A G 5: 33,001,500 (GRCm39) probably benign Het
Ptk2b A G 14: 66,410,749 (GRCm39) probably null Het
Rab13 G C 3: 90,128,330 (GRCm39) probably null Het
Rexo1 C T 10: 80,382,255 (GRCm39) A751T probably benign Het
Rfx1 T C 8: 84,809,374 (GRCm39) V233A possibly damaging Het
Rnf149 C T 1: 39,616,295 (GRCm39) probably benign Het
Rrm1 A G 7: 102,097,086 (GRCm39) D122G probably benign Het
Serpina1b A G 12: 103,698,639 (GRCm39) F70S probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sh3rf3 T C 10: 58,649,526 (GRCm39) S44P possibly damaging Het
Shroom1 A G 11: 53,356,549 (GRCm39) T471A possibly damaging Het
Slc6a1 A G 6: 114,279,792 (GRCm39) Y152C probably damaging Het
Spata31f3 T A 4: 42,873,032 (GRCm39) probably null Het
Spata6 A T 4: 111,632,023 (GRCm39) T145S probably damaging Het
Srcap G A 7: 127,137,186 (GRCm39) G956D probably damaging Het
Ssh2 A T 11: 77,346,031 (GRCm39) I1339F possibly damaging Het
Tardbp A T 4: 148,697,078 (GRCm39) *99K probably null Het
Tbc1d22a A G 15: 86,196,037 (GRCm39) Y336C probably damaging Het
Tmcc3 G A 10: 94,381,419 (GRCm39) probably benign Het
Tmem178b T G 6: 40,222,547 (GRCm39) D87E probably benign Het
Tmem184a A C 5: 139,791,377 (GRCm39) S380A probably benign Het
Tnfaip2 A G 12: 111,411,682 (GRCm39) K84R possibly damaging Het
Tpgs1 A G 10: 79,511,235 (GRCm39) T126A probably benign Het
Traf3ip1 A G 1: 91,447,834 (GRCm39) E437G possibly damaging Het
Trpc4ap C T 2: 155,477,053 (GRCm39) C755Y probably damaging Het
Tsfm A G 10: 126,866,547 (GRCm39) probably benign Het
Tulp1 A C 17: 28,570,811 (GRCm39) probably benign Het
Vmn1r23 A T 6: 57,903,010 (GRCm39) M256K probably benign Het
Zdhhc8 T C 16: 18,044,605 (GRCm39) D305G probably damaging Het
Zfp326 G A 5: 106,054,942 (GRCm39) R282H 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
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
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
Predicted Primers PCR Primer
(F):5'- GGAGGGTCCACGAAAATTCATG -3'
(R):5'- GCTTGTGTATGAGGGCAAACC -3'

Sequencing Primer
(F):5'- TTCATGAGAAACCAGAGTCCG -3'
(R):5'- GCTTCTGTTCTTCCTAGAGGACAAAG -3'
Posted On 2015-10-21