Incidental Mutation 'R5259:Kcnc4'
ID 401287
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 042856-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5259 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107345619-107366868 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107355401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 349 (F349S)
Ref Sequence ENSEMBL: ENSMUSP00000009617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009617]
AlphaFold Q8R1C0
Predicted Effect probably damaging
Transcript: ENSMUST00000009617
AA Change: F349S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009617
Gene: ENSMUSG00000027895
AA Change: F349S

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 0.9384 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (68/68)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,325 (GRCm39) T50P probably damaging Het
Adam5 T A 8: 25,300,850 (GRCm39) L226F possibly damaging Het
Adi1 T C 12: 28,725,544 (GRCm39) probably benign Het
Apc T C 18: 34,447,343 (GRCm39) V1379A probably benign Het
Atp13a4 G A 16: 29,275,428 (GRCm39) T352M probably damaging Het
Baat T A 4: 49,490,070 (GRCm39) N338I probably benign Het
Bdnf A G 2: 109,554,327 (GRCm39) T234A probably benign Het
Catsperd A C 17: 56,967,235 (GRCm39) T539P possibly damaging Het
Cd109 A T 9: 78,617,434 (GRCm39) T1311S probably benign Het
Ceacam18 T C 7: 43,286,536 (GRCm39) probably null Het
Cfap96 T C 8: 46,415,373 (GRCm39) E211G probably benign Het
Cfhr4 C T 1: 139,668,233 (GRCm39) C300Y probably damaging Het
Chsy3 T A 18: 59,543,318 (GRCm39) S819T probably damaging Het
Col4a4 G T 1: 82,431,614 (GRCm39) R1557S unknown Het
Ddx18 A G 1: 121,495,518 (GRCm39) probably null Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Fam13c C G 10: 70,276,893 (GRCm39) A17G probably benign Het
Fermt1 T C 2: 132,748,685 (GRCm39) Y646C probably damaging Het
Fra10ac1 A G 19: 38,188,110 (GRCm39) S229P probably benign Het
Gbp8 A T 5: 105,198,845 (GRCm39) H23Q probably benign Het
Gdf2 T C 14: 33,666,788 (GRCm39) V170A probably benign Het
Gm15723 T C 10: 114,652,722 (GRCm39) noncoding transcript Het
Gm815 G A 19: 26,863,806 (GRCm39) V16I unknown Het
Ighv1-75 T A 12: 115,797,797 (GRCm39) K42* probably null Het
Isx A G 8: 75,619,473 (GRCm39) T222A probably benign Het
Itgax G A 7: 127,747,450 (GRCm39) D1018N probably damaging Het
Lama3 A C 18: 12,598,565 (GRCm39) S991R probably damaging Het
Larp4b C T 13: 9,208,220 (GRCm39) A398V probably damaging Het
Ltbp1 A G 17: 75,670,357 (GRCm39) N1466S probably benign Het
Metrn A T 17: 26,015,514 (GRCm39) L67Q probably damaging Het
Morc1 G A 16: 48,451,132 (GRCm39) R937Q probably benign Het
Mta3 A G 17: 84,112,003 (GRCm39) Y577C probably damaging Het
Nalcn A G 14: 123,753,063 (GRCm39) F308L possibly damaging Het
Nat8 A T 6: 85,807,873 (GRCm39) S87T probably benign Het
Oplah A T 15: 76,185,410 (GRCm39) probably null Het
Or2ak6 A G 11: 58,592,778 (GRCm39) N84D probably benign Het
Or2ak6 A C 11: 58,592,779 (GRCm39) N84T possibly damaging Het
Or7e166 A G 9: 19,624,109 (GRCm39) probably null Het
Pcdh15 A T 10: 74,232,204 (GRCm39) I668L possibly damaging Het
Pecr A G 1: 72,316,444 (GRCm39) probably null Het
Plxna4 T C 6: 32,493,956 (GRCm39) E220G possibly damaging Het
Pnma8b A G 7: 16,679,199 (GRCm39) K61R unknown Het
Prl8a6 C T 13: 27,620,179 (GRCm39) W81* probably null Het
Rab33b C T 3: 51,392,033 (GRCm39) probably benign Het
Rbm33 T A 5: 28,557,772 (GRCm39) probably null Het
Relch A G 1: 105,649,101 (GRCm39) S747G probably benign Het
Reln C T 5: 22,308,395 (GRCm39) V325M possibly damaging Het
Rheb A C 5: 25,008,743 (GRCm39) D158E probably benign Het
Rhebl1 T A 15: 98,778,464 (GRCm39) probably benign Het
Rmdn2 T A 17: 79,975,446 (GRCm39) Y312N probably damaging Het
Scamp1 T G 13: 94,368,594 (GRCm39) N58T probably benign Het
Semp2l1 A T 1: 32,584,598 (GRCm39) C437* probably null Het
Slc35a1 C T 4: 34,683,322 (GRCm39) V53M probably benign Het
Slc35f3 A T 8: 127,115,872 (GRCm39) L266F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Ticrr T A 7: 79,344,471 (GRCm39) S1445R probably benign Het
Ttc23l T C 15: 10,515,236 (GRCm39) N381D probably damaging Het
Usp17ld T A 7: 102,899,781 (GRCm39) K384* probably null Het
Vmn1r20 T A 6: 57,409,050 (GRCm39) Y125* probably null Het
Zfp738 G T 13: 67,817,805 (GRCm39) Q729K probably benign Het
Zfp770 T A 2: 114,027,674 (GRCm39) M132L 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
R0415:Kcnc4 UTSW 3 107,352,749 (GRCm39) missense probably damaging 1.00
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
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'- TCGGCATAATAGATCATGGTGG -3'
(R):5'- AGGGAATATCACCAGCGTGC -3'

Sequencing Primer
(F):5'- TGGCGAAGATGAGCACACCC -3'
(R):5'- ATTCTTACCTACATCGAGGGTG -3'
Posted On 2016-07-06