Incidental Mutation 'IGL01618:Kcne4'
ID 92462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcne4
Ensembl Gene ENSMUSG00000047330
Gene Name potassium voltage-gated channel, Isk-related subfamily, gene 4
Synonyms MiRP3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # IGL01618
Quality Score
Status
Chromosome 1
Chromosomal Location 78794628-78797749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78795525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 58 (M58L)
Ref Sequence ENSEMBL: ENSMUSP00000140235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057262] [ENSMUST00000187432]
AlphaFold Q9WTW3
Predicted Effect possibly damaging
Transcript: ENSMUST00000057262
AA Change: M58L

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055415
Gene: ENSMUSG00000047330
AA Change: M58L

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 possibly damaging
Transcript: ENSMUST00000187432
AA Change: M58L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140235
Gene: ENSMUSG00000047330
AA Change: M58L

DomainStartEndE-ValueType
Pfam:ISK_Channel 6 64 2.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189296
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,261,265 (GRCm39) A74V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1a3 G A 7: 66,058,978 (GRCm39) T239I probably damaging Het
Anxa9 A G 3: 95,207,847 (GRCm39) probably null Het
Atp5me C A 5: 108,581,899 (GRCm39) K28N probably damaging Het
C9 T G 15: 6,489,149 (GRCm39) Y169D probably benign Het
Chat T A 14: 32,168,849 (GRCm39) probably null Het
Csmd3 C T 15: 47,874,479 (GRCm39) E706K probably benign Het
Ctbs A G 3: 146,160,867 (GRCm39) K145E probably benign Het
Dennd5a A G 7: 109,533,302 (GRCm39) M156T probably damaging Het
Dhx29 A G 13: 113,101,756 (GRCm39) Y1275C probably damaging Het
Dpp10 A T 1: 123,295,596 (GRCm39) F517Y probably benign Het
Dst G A 1: 34,227,990 (GRCm39) W1536* probably null Het
Galc T C 12: 98,218,340 (GRCm39) T171A possibly damaging Het
Gsap T C 5: 21,431,246 (GRCm39) I190T probably damaging Het
Hars2 A T 18: 36,922,630 (GRCm39) R388* probably null Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Jhy G T 9: 40,872,260 (GRCm39) T83K possibly damaging Het
Lamc3 T A 2: 31,802,119 (GRCm39) I509N probably damaging Het
Lpar6 T C 14: 73,476,506 (GRCm39) S156P probably damaging Het
Man2c1 T C 9: 57,048,840 (GRCm39) probably benign Het
Marchf11 T C 15: 26,409,285 (GRCm39) I328T possibly damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Muc4 A T 16: 32,577,001 (GRCm39) Q2167L unknown Het
Myom1 T C 17: 71,406,988 (GRCm39) V1135A possibly damaging Het
Nectin1 C T 9: 43,702,555 (GRCm39) R101* probably null Het
Nxpe4 T C 9: 48,305,440 (GRCm39) S277P possibly damaging Het
Or1e35 T C 11: 73,798,303 (GRCm39) N5S probably damaging Het
Or2a52 T A 6: 43,144,637 (GRCm39) V215E probably damaging Het
Or52r1c G A 7: 102,735,582 (GRCm39) V281I probably benign Het
Or5b106 T A 19: 13,123,614 (GRCm39) K136N probably benign Het
Or5w19 A C 2: 87,698,488 (GRCm39) D51A probably damaging Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Prepl A G 17: 85,373,709 (GRCm39) V586A probably damaging Het
Prrc2a T C 17: 35,368,529 (GRCm39) Y2098C probably damaging Het
Rdh16 G A 10: 127,637,176 (GRCm39) C37Y probably damaging Het
Rnd1 A T 15: 98,571,746 (GRCm39) M100K probably benign Het
Sema3c A G 5: 17,877,504 (GRCm39) N204D probably damaging Het
Susd4 A G 1: 182,686,026 (GRCm39) probably null Het
Taar7f G T 10: 23,926,239 (GRCm39) A278S possibly damaging Het
Tle4 T A 19: 14,522,178 (GRCm39) M122L probably benign Het
Trim9 C T 12: 70,295,125 (GRCm39) V662I probably benign Het
Vmn2r10 C A 5: 109,150,345 (GRCm39) C233F probably damaging Het
Vmn2r98 A C 17: 19,285,521 (GRCm39) T114P possibly damaging Het
Zfyve21 C T 12: 111,794,247 (GRCm39) probably benign Het
Zng1 T C 19: 24,918,140 (GRCm39) E210G possibly damaging Het
Other mutations in Kcne4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3405: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
Posted On 2013-12-09