Incidental Mutation 'R2425:Kcne1'
ID 250173
Institutional Source Beutler Lab
Gene Symbol Kcne1
Ensembl Gene ENSMUSG00000039639
Gene Name potassium voltage-gated channel, Isk-related subfamily, member 1
Synonyms Isk, MinK, nmf190
MMRRC Submission 040387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R2425 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 92142889-92156356 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92145646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 66 (I66T)
Ref Sequence ENSEMBL: ENSMUSP00000130866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051705] [ENSMUST00000166707]
AlphaFold P23299
Predicted Effect probably damaging
Transcript: ENSMUST00000051705
AA Change: I66T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052248
Gene: ENSMUSG00000039639
AA Change: I66T

DomainStartEndE-ValueType
Pfam:ISK_Channel 2 126 1.4e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166707
AA Change: I66T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130866
Gene: ENSMUSG00000039639
AA Change: I66T

DomainStartEndE-ValueType
Pfam:ISK_Channel 1 129 2.4e-84 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted and spontaneous null mutations exhibit head-shaking, circling, ataxia, and severe deafness associated with inner ear defects. Older mutants show increased numbers of T cells. Study of cardiac myocytes in one line revealed physiologic defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,959,033 (GRCm39) F621S probably damaging Het
Abcc10 A G 17: 46,621,083 (GRCm39) Y976H probably damaging Het
Abhd6 T A 14: 8,049,857 (GRCm38) N215K probably benign Het
Adcy4 T C 14: 56,015,474 (GRCm39) T479A probably damaging Het
Amacr A G 15: 10,983,454 (GRCm39) Q88R possibly damaging Het
Ankrd11 T A 8: 123,619,902 (GRCm39) I1317F possibly damaging Het
Ano3 C A 2: 110,693,188 (GRCm39) A137S probably benign Het
Astn1 T G 1: 158,407,236 (GRCm39) S562A probably damaging Het
Cd44 T A 2: 102,691,931 (GRCm39) Y119F probably damaging Het
CN725425 A C 15: 91,130,058 (GRCm39) D307A probably damaging Het
Col12a1 T C 9: 79,585,648 (GRCm39) Y1243C probably damaging Het
Cyp2c50 T C 19: 40,078,292 (GRCm39) I50T probably benign Het
Dhrs9 A G 2: 69,223,308 (GRCm39) K19E probably benign Het
Dnajb14 T G 3: 137,598,666 (GRCm39) F135V probably null Het
Draxin T A 4: 148,197,213 (GRCm39) T195S possibly damaging Het
Elane C T 10: 79,723,610 (GRCm39) R192C probably benign Het
Fam171a2 A C 11: 102,329,187 (GRCm39) I524S possibly damaging Het
Fbxo10 C T 4: 45,051,642 (GRCm39) E490K possibly damaging Het
Fkbp15 T C 4: 62,230,602 (GRCm39) T704A probably benign Het
Fndc1 T A 17: 8,023,850 (GRCm39) D35V probably damaging Het
Galntl5 A G 5: 25,425,079 (GRCm39) K366E probably damaging Het
Gas7 G A 11: 67,534,121 (GRCm39) A74T probably benign Het
Gjd4 G T 18: 9,280,811 (GRCm39) S89* probably null Het
Gldc T A 19: 30,109,190 (GRCm39) N583Y probably damaging Het
Gpr161 T A 1: 165,138,192 (GRCm39) S259R possibly damaging Het
Igfn1 T A 1: 135,890,840 (GRCm39) T2387S probably damaging Het
Il3 A T 11: 54,156,375 (GRCm39) V119D possibly damaging Het
Ints3 T C 3: 90,301,417 (GRCm39) T822A possibly damaging Het
Jakmip1 C T 5: 37,299,149 (GRCm39) Q790* probably null Het
Nipbl A G 15: 8,380,966 (GRCm39) S609P probably benign Het
Or10d5 T C 9: 39,861,137 (GRCm39) E310G probably null Het
Or2t48 A G 11: 58,420,137 (GRCm39) I225T probably damaging Het
Or8k21 A G 2: 86,144,739 (GRCm39) V297A probably damaging Het
Pdxdc1 A T 16: 13,697,372 (GRCm39) S103T possibly damaging Het
Pla2g2a C A 4: 138,560,229 (GRCm39) A24E possibly damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pramel1 T G 4: 143,125,036 (GRCm39) L320R probably damaging Het
Rad23b T A 4: 55,385,438 (GRCm39) I325N probably damaging Het
Rasgrp1 C G 2: 117,119,931 (GRCm39) probably null Het
Rbm12b1 T A 4: 12,146,443 (GRCm39) I805N probably damaging Het
Shld2 A G 14: 33,990,646 (GRCm39) S87P probably damaging Het
Slc12a9 G T 5: 137,313,859 (GRCm39) A700E probably damaging Het
Tbc1d24 A T 17: 24,404,982 (GRCm39) V54E probably damaging Het
Tmc8 A G 11: 117,683,395 (GRCm39) D650G probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Ush2a T A 1: 188,270,001 (GRCm39) N1749K possibly damaging Het
Usp42 T C 5: 143,701,594 (GRCm39) T810A probably benign Het
Wdr70 C A 15: 7,916,840 (GRCm39) E526* probably null Het
Zfp935 G T 13: 62,602,922 (GRCm39) Q93K probably benign Het
Other mutations in Kcne1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Kcne1 APN 16 92,145,534 (GRCm39) missense probably benign 0.01
R0178:Kcne1 UTSW 16 92,145,697 (GRCm39) missense probably damaging 0.98
R9185:Kcne1 UTSW 16 92,145,796 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AGATCCGCTTGTCACCTGTAG -3'
(R):5'- AATTCCACGACTGTTCTGCC -3'

Sequencing Primer
(F):5'- GTTCACGACAATGGCTTCAG -3'
(R):5'- CCTTTCTGGCCAGGCTGTG -3'
Posted On 2014-11-12