Incidental Mutation 'R3405:Kcne4'
ID 259313
Institutional Source Beutler Lab
Gene Symbol Kcne4
Ensembl Gene ENSMUSG00000047330
Gene Name potassium voltage-gated channel, Isk-related subfamily, gene 4
Synonyms MiRP3
MMRRC Submission 040623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R3405 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 78794628-78797749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 78795688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 112 (A112V)
Ref Sequence ENSEMBL: ENSMUSP00000055415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057262] [ENSMUST00000187432]
AlphaFold Q9WTW3
Predicted Effect possibly damaging
Transcript: ENSMUST00000057262
AA Change: A112V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055415
Gene: ENSMUSG00000047330
AA Change: A112V

DomainStartEndE-ValueType
Pfam:ISK_Channel 4 86 2.3e-11 PFAM
low complexity region 124 131 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186681
Predicted Effect probably benign
Transcript: ENSMUST00000187432
SMART Domains Protein: ENSMUSP00000140235
Gene: ENSMUSG00000047330

DomainStartEndE-ValueType
Pfam:ISK_Channel 6 64 2.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189296
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,644,945 (GRCm39) probably benign Het
Bcorl1 T A X: 47,459,884 (GRCm39) M1139K probably benign Het
C2cd3 T C 7: 100,039,373 (GRCm39) S191P probably benign Het
Cdc27 T C 11: 104,398,026 (GRCm39) E778G probably damaging Het
Col3a1 G A 1: 45,377,913 (GRCm39) probably benign Het
Cubn C T 2: 13,338,319 (GRCm39) V2350I probably benign Het
Dhodh G A 8: 110,330,107 (GRCm39) R86* probably null Het
Dnhd1 C T 7: 105,343,968 (GRCm39) Q1771* probably null Het
Dpt A C 1: 164,624,500 (GRCm39) E67A probably damaging Het
Eif2ak2 A G 17: 79,166,068 (GRCm39) probably benign Het
Exo1 A G 1: 175,733,536 (GRCm39) K787E possibly damaging Het
Fancm T C 12: 65,122,546 (GRCm39) S23P probably benign Het
Fmn1 A G 2: 113,194,693 (GRCm39) E131G unknown Het
Gm5612 A T 9: 18,339,149 (GRCm39) probably benign Het
Gsdma T C 11: 98,563,964 (GRCm39) probably benign Het
Hormad2 T G 11: 4,374,302 (GRCm39) Q88P probably damaging Het
Immp2l T A 12: 41,160,846 (GRCm39) L48* probably null Het
Lamb1 C T 12: 31,337,528 (GRCm39) R372C probably damaging Het
Lrrc30 A G 17: 67,939,175 (GRCm39) L135P probably damaging Het
Ltn1 A T 16: 87,213,103 (GRCm39) V486D probably damaging Het
Mab21l3 C A 3: 101,730,847 (GRCm39) V131F probably damaging Het
Map3k4 A T 17: 12,475,668 (GRCm39) F809Y probably damaging Het
Mki67 T A 7: 135,309,204 (GRCm39) T416S probably benign Het
Mlst8 A T 17: 24,697,099 (GRCm39) M56K probably benign Het
Mmp9 A G 2: 164,791,310 (GRCm39) Y160C probably damaging Het
Mslnl A G 17: 25,965,155 (GRCm39) Y507C probably damaging Het
Myl12a A T 17: 71,301,737 (GRCm39) M130K probably benign Het
Myrfl A G 10: 116,658,770 (GRCm39) F396L probably damaging Het
Nalf2 A G X: 98,889,109 (GRCm39) I325V probably benign Het
Ncf2 A G 1: 152,701,698 (GRCm39) probably benign Het
Nlrp9c T A 7: 26,084,707 (GRCm39) I291F probably benign Het
Nrp1 T A 8: 129,224,569 (GRCm39) Y777* probably null Het
Ogdh T C 11: 6,299,462 (GRCm39) V776A probably damaging Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Plg G T 17: 12,622,096 (GRCm39) S472I possibly damaging Het
Pnlip A G 19: 58,669,191 (GRCm39) T397A probably benign Het
Rbfox3 T A 11: 118,387,283 (GRCm39) Q277L possibly damaging Het
Senp7 T A 16: 56,008,640 (GRCm39) W1007R probably damaging Het
Stap2 A T 17: 56,304,511 (GRCm39) W374R probably benign Het
Szt2 A G 4: 118,251,217 (GRCm39) V297A probably benign Het
Thada A T 17: 84,538,213 (GRCm39) probably benign Het
Ticrr G C 7: 79,344,539 (GRCm39) S1468T probably benign Het
Uvssa G T 5: 33,547,162 (GRCm39) G243C probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vwa8 T A 14: 79,401,660 (GRCm39) probably benign Het
Zfp609 A T 9: 65,608,454 (GRCm39) M1142K possibly damaging Het
Other mutations in Kcne4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01618:Kcne4 APN 1 78,795,525 (GRCm39) missense possibly damaging 0.89
IGL03047:Kcne4 UTSW 1 78,795,495 (GRCm39) missense possibly damaging 0.64
R2091:Kcne4 UTSW 1 78,795,624 (GRCm39) missense probably benign 0.00
R2426:Kcne4 UTSW 1 78,795,688 (GRCm39) missense possibly damaging 0.94
R3406:Kcne4 UTSW 1 78,795,688 (GRCm39) missense possibly damaging 0.94
R4158:Kcne4 UTSW 1 78,795,819 (GRCm39) missense probably benign 0.01
R4159:Kcne4 UTSW 1 78,795,819 (GRCm39) missense probably benign 0.01
R4414:Kcne4 UTSW 1 78,795,651 (GRCm39) missense probably benign
R6959:Kcne4 UTSW 1 78,795,603 (GRCm39) missense probably benign 0.01
R8461:Kcne4 UTSW 1 78,795,433 (GRCm39) missense probably benign 0.26
R9020:Kcne4 UTSW 1 78,795,425 (GRCm39) missense probably benign 0.00
R9311:Kcne4 UTSW 1 78,795,824 (GRCm39) missense probably benign
R9375:Kcne4 UTSW 1 78,795,623 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTGGGCTACATGAAATCCAAG -3'
(R):5'- CTCTGTCAAGTGTAGCTTACGG -3'

Sequencing Primer
(F):5'- GCTACATGAAATCCAAGAGGCG -3'
(R):5'- TACCTCCTAGCACCTGGTGG -3'
Posted On 2015-01-23