Incidental Mutation 'R0761:Kcna4'
ID 70075
Institutional Source Beutler Lab
Gene Symbol Kcna4
Ensembl Gene ENSMUSG00000042604
Gene Name potassium voltage-gated channel, shaker-related subfamily, member 4
Synonyms Kv1.4
MMRRC Submission 038941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 107120984-107128847 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107126417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 384 (S384T)
Ref Sequence ENSEMBL: ENSMUSP00000037958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037012]
AlphaFold Q61423
Predicted Effect probably benign
Transcript: ENSMUST00000037012
AA Change: S384T

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037958
Gene: ENSMUSG00000042604
AA Change: S384T

DomainStartEndE-ValueType
Pfam:K_channel_TID 1 74 1.5e-42 PFAM
low complexity region 77 89 N/A INTRINSIC
coiled coil region 112 139 N/A INTRINSIC
low complexity region 160 166 N/A INTRINSIC
BTB 177 277 1.67e-8 SMART
Pfam:Ion_trans 307 572 2.8e-51 PFAM
Pfam:Ion_trans_2 480 565 9e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173191
Meta Mutation Damage Score 0.1022 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal; however, a small subset of mutants exhibit spontaneous seizure activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nudt12 A T 17: 59,318,064 (GRCm39) D60E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably damaging Het
Other mutations in Kcna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Kcna4 APN 2 107,126,207 (GRCm39) missense probably damaging 1.00
IGL01025:Kcna4 APN 2 107,126,736 (GRCm39) missense probably damaging 0.99
IGL01433:Kcna4 APN 2 107,127,078 (GRCm39) missense probably damaging 0.99
IGL01805:Kcna4 APN 2 107,126,843 (GRCm39) missense probably damaging 1.00
IGL02121:Kcna4 APN 2 107,126,963 (GRCm39) missense possibly damaging 0.92
Pinched UTSW 2 107,126,894 (GRCm39) missense probably damaging 1.00
R6381_Kcna4_300 UTSW 2 107,125,317 (GRCm39) missense probably benign 0.05
PIT4377001:Kcna4 UTSW 2 107,127,205 (GRCm39) missense possibly damaging 0.83
R0255:Kcna4 UTSW 2 107,126,907 (GRCm39) missense probably damaging 1.00
R0650:Kcna4 UTSW 2 107,125,927 (GRCm39) nonsense probably null
R1211:Kcna4 UTSW 2 107,125,660 (GRCm39) small deletion probably benign
R1553:Kcna4 UTSW 2 107,127,032 (GRCm39) missense probably benign 0.02
R1854:Kcna4 UTSW 2 107,126,829 (GRCm39) missense probably damaging 1.00
R1915:Kcna4 UTSW 2 107,127,123 (GRCm39) missense probably benign 0.01
R1974:Kcna4 UTSW 2 107,126,565 (GRCm39) missense possibly damaging 0.65
R4002:Kcna4 UTSW 2 107,126,259 (GRCm39) missense probably damaging 1.00
R4163:Kcna4 UTSW 2 107,126,151 (GRCm39) missense probably damaging 1.00
R4413:Kcna4 UTSW 2 107,125,718 (GRCm39) missense probably benign 0.01
R4474:Kcna4 UTSW 2 107,126,352 (GRCm39) missense probably benign
R4492:Kcna4 UTSW 2 107,126,436 (GRCm39) missense probably damaging 1.00
R4525:Kcna4 UTSW 2 107,125,410 (GRCm39) missense possibly damaging 0.93
R4766:Kcna4 UTSW 2 107,126,888 (GRCm39) missense probably damaging 1.00
R4787:Kcna4 UTSW 2 107,126,813 (GRCm39) missense probably damaging 1.00
R5423:Kcna4 UTSW 2 107,126,151 (GRCm39) nonsense probably null
R5725:Kcna4 UTSW 2 107,127,221 (GRCm39) missense possibly damaging 0.48
R6381:Kcna4 UTSW 2 107,125,317 (GRCm39) missense probably benign 0.05
R6399:Kcna4 UTSW 2 107,126,894 (GRCm39) missense probably damaging 1.00
R6787:Kcna4 UTSW 2 107,125,670 (GRCm39) missense possibly damaging 0.91
R6891:Kcna4 UTSW 2 107,126,652 (GRCm39) missense probably damaging 1.00
R7057:Kcna4 UTSW 2 107,125,665 (GRCm39) missense probably damaging 0.96
R7250:Kcna4 UTSW 2 107,126,663 (GRCm39) missense possibly damaging 0.92
R7522:Kcna4 UTSW 2 107,126,600 (GRCm39) missense probably damaging 1.00
R7799:Kcna4 UTSW 2 107,126,237 (GRCm39) missense possibly damaging 0.70
R8758:Kcna4 UTSW 2 107,126,494 (GRCm39) missense probably damaging 1.00
R9618:Kcna4 UTSW 2 107,126,374 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CATATTTTGCCTGGAAACCTTGCCG -3'
(R):5'- CGCATCTGGAATGCTTTGGAAATGG -3'

Sequencing Primer
(F):5'- AAACCTTGCCGGAGTTCAG -3'
(R):5'- GATAAGAAGGCCCAGTTCCCG -3'
Posted On 2013-09-30