Incidental Mutation 'R0415:Kcnc4'
ID 40212
Institutional Source Beutler Lab
Gene Symbol Kcnc4
Ensembl Gene ENSMUSG00000027895
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 4
Synonyms Kv3.4, Kcr2-4
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R0415 (G1)
Quality Score 120
Status Validated
Chromosome 3
Chromosomal Location 107345619-107366868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107352749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 610 (K610E)
Ref Sequence ENSEMBL: ENSMUSP00000009617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009617]
AlphaFold Q8R1C0
Predicted Effect probably damaging
Transcript: ENSMUST00000009617
AA Change: K610E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: K610E

DomainStartEndE-ValueType
Pfam:Potassium_chann 1 29 3e-23 PFAM
BTB 36 155 4.66e-16 SMART
low complexity region 168 185 N/A INTRINSIC
low complexity region 194 211 N/A INTRINSIC
Pfam:Ion_trans 229 487 2.6e-46 PFAM
Pfam:Ion_trans_2 386 480 3e-12 PFAM
low complexity region 489 505 N/A INTRINSIC
Meta Mutation Damage Score 0.2476 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 24,036,048 (GRCm39) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,306,811 (GRCm39) probably null Het
Adgra3 C A 5: 50,119,099 (GRCm39) probably benign Het
Adgre4 G A 17: 56,159,288 (GRCm39) V658I probably benign Het
Ahnak A G 19: 8,990,235 (GRCm39) probably benign Het
Anapc2 A G 2: 25,168,337 (GRCm39) T159A probably damaging Het
Arfgef3 A G 10: 18,488,875 (GRCm39) probably benign Het
Atf7ip C T 6: 136,537,010 (GRCm39) S81L possibly damaging Het
Cacna1i A G 15: 80,253,031 (GRCm39) probably benign Het
Camk1 A T 6: 113,318,852 (GRCm39) Y20* probably null Het
Ccdc40 T C 11: 119,122,944 (GRCm39) Y249H possibly damaging Het
Cd109 T A 9: 78,619,897 (GRCm39) S1380T probably benign Het
Cfap57 A T 4: 118,426,628 (GRCm39) L1107Q possibly damaging Het
Col6a4 C T 9: 105,952,279 (GRCm39) V540I probably damaging Het
Cst9 T A 2: 148,680,362 (GRCm39) probably benign Het
Cul5 C T 9: 53,578,370 (GRCm39) V73I probably benign Het
Cxcl16 T A 11: 70,349,574 (GRCm39) K84* probably null Het
Cyp2c29 T C 19: 39,317,539 (GRCm39) probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dip2c C T 13: 9,618,325 (GRCm39) probably benign Het
Dis3 A T 14: 99,324,892 (GRCm39) I513N probably damaging Het
Dnajc16 A T 4: 141,516,359 (GRCm39) L3* probably null Het
Dop1a T A 9: 86,388,555 (GRCm39) L480M probably damaging Het
Eml6 A G 11: 29,699,392 (GRCm39) V1787A possibly damaging Het
Etnk1 A G 6: 143,126,500 (GRCm39) N115S probably damaging Het
Fryl T C 5: 73,255,757 (GRCm39) Y758C probably damaging Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Ggnbp2 A C 11: 84,724,051 (GRCm39) probably benign Het
Gm7137 A G 10: 77,624,007 (GRCm39) probably benign Het
Gstm2 T A 3: 107,891,322 (GRCm39) Q132L probably benign Het
Habp2 T C 19: 56,306,149 (GRCm39) probably benign Het
Hectd2 T C 19: 36,562,284 (GRCm39) probably benign Het
Htr6 A G 4: 138,789,392 (GRCm39) I291T possibly damaging Het
Ighg2c T C 12: 113,251,530 (GRCm39) D199G unknown Het
Itih2 A G 2: 10,110,426 (GRCm39) probably benign Het
Kcnab2 A G 4: 152,479,593 (GRCm39) F248S probably benign Het
Kcnk16 T A 14: 20,313,043 (GRCm39) probably null Het
Kndc1 C T 7: 139,510,037 (GRCm39) T1293I probably damaging Het
Lcp1 A T 14: 75,464,446 (GRCm39) I556F possibly damaging Het
Lrrc8d T C 5: 105,959,731 (GRCm39) L47P probably damaging Het
Lyset T A 12: 102,711,135 (GRCm39) Y119* probably null Het
Lyst T C 13: 13,886,195 (GRCm39) probably benign Het
Macrod2 G A 2: 142,052,065 (GRCm39) probably null Het
Mical2 C T 7: 111,980,235 (GRCm39) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,759,576 (GRCm39) probably benign Het
Msh3 A G 13: 92,483,294 (GRCm39) V283A possibly damaging Het
Nup205 T C 6: 35,191,569 (GRCm39) probably benign Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or51e2 C T 7: 102,391,294 (GRCm39) M305I probably benign Het
Or5m10 A T 2: 85,717,782 (GRCm39) I213F possibly damaging Het
Or5m9 A T 2: 85,877,399 (GRCm39) H191L probably benign Het
Or8c15 A T 9: 38,121,269 (GRCm39) M305L probably benign Het
Or8g2 A G 9: 39,821,279 (GRCm39) Y60C probably damaging Het
Pard3 G A 8: 128,337,047 (GRCm39) G1221D probably damaging Het
Pax5 G A 4: 44,691,886 (GRCm39) A120V probably damaging Het
Pcsk6 C T 7: 65,683,622 (GRCm39) R746C probably damaging Het
Pif1 G A 9: 65,495,333 (GRCm39) C81Y probably benign Het
Plcb1 A G 2: 135,179,419 (GRCm39) Y609C probably damaging Het
Plcd4 C A 1: 74,591,256 (GRCm39) S217Y probably damaging Het
Plxna1 G A 6: 89,334,318 (GRCm39) H104Y probably benign Het
Polr2k A G 15: 36,175,602 (GRCm39) Y45C probably damaging Het
Prex1 A G 2: 166,428,619 (GRCm39) probably benign Het
Pth2r A G 1: 65,427,598 (GRCm39) M424V probably benign Het
Pygm A G 19: 6,441,396 (GRCm39) R464G probably benign Het
Rad51c A G 11: 87,288,481 (GRCm39) L234P probably damaging Het
Rnf145 A G 11: 44,415,965 (GRCm39) Y60C probably damaging Het
Rnf167 T C 11: 70,540,525 (GRCm39) I135T probably damaging Het
Rnf213 A T 11: 119,305,295 (GRCm39) I509F probably damaging Het
Ro60 G T 1: 143,635,813 (GRCm39) N444K probably benign Het
Ryr2 T C 13: 11,884,042 (GRCm39) S213G probably damaging Het
Selenbp1 T C 3: 94,844,224 (GRCm39) V27A possibly damaging Het
Selenof T G 3: 144,283,453 (GRCm39) L14R probably damaging Het
Sfswap A T 5: 129,581,190 (GRCm39) D121V probably damaging Het
Slc25a34 C A 4: 141,347,780 (GRCm39) M300I possibly damaging Het
Slc34a3 T G 2: 25,119,122 (GRCm39) T583P probably benign Het
Slc66a3 C A 12: 17,047,711 (GRCm39) probably benign Het
Smg1 C A 7: 117,781,691 (GRCm39) A1199S probably benign Het
Spint1 A G 2: 119,076,096 (GRCm39) T231A probably damaging Het
Sptbn1 A C 11: 30,099,576 (GRCm39) N229K probably damaging Het
Sult2b1 A G 7: 45,379,516 (GRCm39) probably benign Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Tbcel C A 9: 42,355,796 (GRCm39) C139F probably benign Het
Thbs2 A C 17: 14,900,235 (GRCm39) S573A probably benign Het
Tmem132c A G 5: 127,640,769 (GRCm39) E980G probably damaging Het
Tmem247 G T 17: 87,229,750 (GRCm39) C197F probably damaging Het
Tmem43 C A 6: 91,459,300 (GRCm39) P257Q probably benign Het
Tmprss13 A G 9: 45,248,430 (GRCm39) probably null Het
Ubr5 T C 15: 37,973,224 (GRCm39) T2626A probably damaging Het
Vmn1r196 T A 13: 22,478,006 (GRCm39) V215D probably damaging Het
Vmn1r22 G T 6: 57,877,317 (GRCm39) T220K probably benign Het
Vmn2r116 G A 17: 23,606,253 (GRCm39) M388I possibly damaging Het
Vmn2r74 A C 7: 85,610,618 (GRCm39) C25G probably damaging Het
Xndc1 T C 7: 101,729,823 (GRCm39) probably benign Het
Zfp282 A G 6: 47,874,815 (GRCm39) D340G probably damaging Het
Zfp282 T A 6: 47,881,987 (GRCm39) I558N possibly damaging Het
Zfp316 T A 5: 143,250,246 (GRCm39) T56S unknown Het
Zfp345 A G 2: 150,316,479 (GRCm39) probably benign Het
Other mutations in Kcnc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Kcnc4 APN 3 107,355,189 (GRCm39) missense probably benign 0.01
IGL00899:Kcnc4 APN 3 107,365,779 (GRCm39) missense possibly damaging 0.94
IGL01755:Kcnc4 APN 3 107,355,491 (GRCm39) missense probably damaging 1.00
IGL01895:Kcnc4 APN 3 107,355,534 (GRCm39) missense probably benign 0.01
IGL02741:Kcnc4 APN 3 107,355,294 (GRCm39) missense probably damaging 0.98
IGL03393:Kcnc4 APN 3 107,355,243 (GRCm39) missense possibly damaging 0.75
PIT4151001:Kcnc4 UTSW 3 107,366,019 (GRCm39) missense probably damaging 1.00
PIT4378001:Kcnc4 UTSW 3 107,354,879 (GRCm39) missense probably benign
R0158:Kcnc4 UTSW 3 107,365,920 (GRCm39) missense probably benign 0.21
R0704:Kcnc4 UTSW 3 107,355,279 (GRCm39) missense possibly damaging 0.92
R0747:Kcnc4 UTSW 3 107,355,470 (GRCm39) missense probably damaging 1.00
R1481:Kcnc4 UTSW 3 107,355,534 (GRCm39) missense probably benign 0.02
R1540:Kcnc4 UTSW 3 107,352,743 (GRCm39) splice site probably null
R1602:Kcnc4 UTSW 3 107,355,520 (GRCm39) missense possibly damaging 0.96
R2422:Kcnc4 UTSW 3 107,352,863 (GRCm39) missense probably benign 0.30
R3750:Kcnc4 UTSW 3 107,355,506 (GRCm39) missense probably benign 0.36
R4791:Kcnc4 UTSW 3 107,354,859 (GRCm39) missense probably benign 0.32
R4815:Kcnc4 UTSW 3 107,365,582 (GRCm39) missense probably benign 0.37
R5216:Kcnc4 UTSW 3 107,346,757 (GRCm39) missense probably benign
R5259:Kcnc4 UTSW 3 107,355,401 (GRCm39) missense probably damaging 1.00
R5317:Kcnc4 UTSW 3 107,366,055 (GRCm39) missense probably damaging 0.98
R5474:Kcnc4 UTSW 3 107,355,207 (GRCm39) missense possibly damaging 0.82
R5783:Kcnc4 UTSW 3 107,355,188 (GRCm39) missense possibly damaging 0.69
R5865:Kcnc4 UTSW 3 107,365,515 (GRCm39) critical splice donor site probably null
R6228:Kcnc4 UTSW 3 107,355,693 (GRCm39) missense probably damaging 0.99
R6536:Kcnc4 UTSW 3 107,355,512 (GRCm39) missense possibly damaging 0.81
R7018:Kcnc4 UTSW 3 107,366,178 (GRCm39) missense probably benign 0.00
R7319:Kcnc4 UTSW 3 107,366,100 (GRCm39) missense probably benign 0.21
R7687:Kcnc4 UTSW 3 107,365,925 (GRCm39) small insertion probably benign
R8436:Kcnc4 UTSW 3 107,366,084 (GRCm39) missense probably damaging 0.96
R8707:Kcnc4 UTSW 3 107,355,449 (GRCm39) missense possibly damaging 0.76
R8844:Kcnc4 UTSW 3 107,355,396 (GRCm39) missense probably damaging 1.00
R8868:Kcnc4 UTSW 3 107,355,452 (GRCm39) missense probably damaging 1.00
R9542:Kcnc4 UTSW 3 107,365,571 (GRCm39) nonsense probably null
X0020:Kcnc4 UTSW 3 107,354,967 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CCATTCTAAAAGCGAGGGCGCATC -3'
(R):5'- TCATCAAGAGCCTACCTGAGCCAG -3'

Sequencing Primer
(F):5'- GCGCATCCAAGGCAGAG -3'
(R):5'- AGCCCTATTGGGAAATACTGCTG -3'
Posted On 2013-05-23