Incidental Mutation 'R5165:Kctd18'
ID 395626
Institutional Source Beutler Lab
Gene Symbol Kctd18
Ensembl Gene ENSMUSG00000054770
Gene Name potassium channel tetramerisation domain containing 18
Synonyms 4932411A20Rik
MMRRC Submission 042746-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5165 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 57994260-58009298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57998395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 68 (Y68C)
Ref Sequence ENSEMBL: ENSMUSP00000130952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114410] [ENSMUST00000159826] [ENSMUST00000161608] [ENSMUST00000164963] [ENSMUST00000163061]
AlphaFold E0CZ26
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068000
Predicted Effect probably damaging
Transcript: ENSMUST00000114410
AA Change: Y235C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: Y235C

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159826
AA Change: Y68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770
AA Change: Y68C

DomainStartEndE-ValueType
SCOP:d1t1da_ 23 65 2e-11 SMART
Blast:BTB 23 107 2e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160614
Predicted Effect probably benign
Transcript: ENSMUST00000161608
SMART Domains Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163006
Predicted Effect probably damaging
Transcript: ENSMUST00000164963
AA Change: Y68C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770
AA Change: Y68C

DomainStartEndE-ValueType
SCOP:d1t1da_ 23 65 2e-11 SMART
Blast:BTB 23 107 7e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189298
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162410
Predicted Effect probably benign
Transcript: ENSMUST00000163061
SMART Domains Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Meta Mutation Damage Score 0.2874 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actg2 T A 6: 83,503,814 (GRCm39) I77F probably benign Het
Actl6a G A 3: 32,774,357 (GRCm39) V285I probably benign Het
Adam9 A T 8: 25,457,190 (GRCm39) I646N possibly damaging Het
Ahnak T C 19: 8,993,029 (GRCm39) I4771T possibly damaging Het
Alas1 T C 9: 106,118,454 (GRCm39) T223A probably damaging Het
Apc2 A G 10: 80,151,684 (GRCm39) E2246G probably damaging Het
Atp1a1 A G 3: 101,489,105 (GRCm39) I795T probably benign Het
Ccn3 A G 15: 54,612,585 (GRCm39) D198G probably damaging Het
Cdhr4 T C 9: 107,874,829 (GRCm39) L633P probably damaging Het
Cep350 A G 1: 155,804,114 (GRCm39) S990P probably damaging Het
Cplx2 A G 13: 54,526,789 (GRCm39) I66V possibly damaging Het
Cx3cl1 T C 8: 95,506,504 (GRCm39) S170P probably benign Het
Cyth1 T C 11: 118,059,908 (GRCm39) N353S possibly damaging Het
Dapp1 T C 3: 137,644,976 (GRCm39) probably null Het
Dmwd G A 7: 18,811,960 (GRCm39) probably benign Het
Dsg1c A G 18: 20,410,080 (GRCm39) H516R probably damaging Het
Efemp2 T C 19: 5,525,439 (GRCm39) C39R probably damaging Het
Fnbp4 C G 2: 90,608,001 (GRCm39) Q908E possibly damaging Het
Foxred2 A G 15: 77,840,212 (GRCm39) V26A probably damaging Het
Gkap1 A G 13: 58,411,010 (GRCm39) probably null Het
Gstcd A C 3: 132,790,440 (GRCm39) V109G probably damaging Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcnj9 A T 1: 172,150,724 (GRCm39) D296E probably benign Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Lrfn5 T C 12: 61,886,410 (GRCm39) I66T possibly damaging Het
Lrp12 A G 15: 39,735,857 (GRCm39) S692P probably benign Het
Lrrc10 A T 10: 116,881,965 (GRCm39) N213I probably benign Het
Nceh1 G A 3: 27,295,677 (GRCm39) V313I probably benign Het
Nkx6-3 T A 8: 23,643,759 (GRCm39) H53Q probably damaging Het
Ntmt2 A G 1: 163,550,092 (GRCm39) I53T probably benign Het
Or14j7 A G 17: 38,235,252 (GRCm39) D265G probably benign Het
Or2y16 A G 11: 49,335,203 (GRCm39) H175R probably damaging Het
Or4f53 T A 2: 111,087,568 (GRCm39) V36E possibly damaging Het
Or5b97 A T 19: 12,878,564 (GRCm39) N193K probably benign Het
Oxct1 A T 15: 4,083,251 (GRCm39) T157S possibly damaging Het
Pcdhga3 A G 18: 37,808,723 (GRCm39) E392G possibly damaging Het
Polr1a T G 6: 71,944,909 (GRCm39) Y1322D probably damaging Het
Prkdc T A 16: 15,496,136 (GRCm39) S776T probably damaging Het
Ralgapb A G 2: 158,307,832 (GRCm39) I1047V possibly damaging Het
Sertad4 A T 1: 192,529,130 (GRCm39) S229T possibly damaging Het
Shank2 T A 7: 143,963,373 (GRCm39) V327D possibly damaging Het
Skint6 A T 4: 112,722,865 (GRCm39) V904E possibly damaging Het
Slfn8 A T 11: 82,907,953 (GRCm39) Y197N probably damaging Het
Smo T A 6: 29,736,077 (GRCm39) L23Q unknown Het
Snx29 T A 16: 11,238,639 (GRCm39) M23K probably damaging Het
Synrg T C 11: 83,881,761 (GRCm39) S366P probably benign Het
Tomm40 A G 7: 19,447,592 (GRCm39) probably null Het
Tpcn1 T C 5: 120,696,010 (GRCm39) E81G probably damaging Het
Trappc1 A G 11: 69,215,060 (GRCm39) Q26R probably benign Het
Ttn T A 2: 76,606,900 (GRCm39) probably null Het
Usp25 T A 16: 76,873,293 (GRCm39) D450E possibly damaging Het
Zmynd19 T A 2: 24,848,201 (GRCm39) Y132* probably null Het
Other mutations in Kctd18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Kctd18 APN 1 57,995,897 (GRCm39) missense probably damaging 1.00
IGL01153:Kctd18 APN 1 58,004,550 (GRCm39) missense probably damaging 1.00
IGL02513:Kctd18 APN 1 58,004,559 (GRCm39) missense probably damaging 1.00
P0043:Kctd18 UTSW 1 58,006,722 (GRCm39) missense probably damaging 1.00
R1823:Kctd18 UTSW 1 57,995,524 (GRCm39) missense probably benign 0.05
R1918:Kctd18 UTSW 1 57,998,379 (GRCm39) missense probably damaging 1.00
R1969:Kctd18 UTSW 1 58,006,779 (GRCm39) missense probably benign 0.03
R1971:Kctd18 UTSW 1 58,006,779 (GRCm39) missense probably benign 0.03
R2247:Kctd18 UTSW 1 58,006,801 (GRCm39) missense possibly damaging 0.58
R4849:Kctd18 UTSW 1 58,001,152 (GRCm39) missense probably damaging 0.99
R4922:Kctd18 UTSW 1 58,004,707 (GRCm39) intron probably benign
R5377:Kctd18 UTSW 1 58,002,252 (GRCm39) missense probably benign 0.43
R5747:Kctd18 UTSW 1 58,001,183 (GRCm39) intron probably benign
R5782:Kctd18 UTSW 1 57,998,396 (GRCm39) missense probably damaging 1.00
R7132:Kctd18 UTSW 1 58,006,737 (GRCm39) nonsense probably null
R7253:Kctd18 UTSW 1 58,001,115 (GRCm39) nonsense probably null
R7272:Kctd18 UTSW 1 57,995,710 (GRCm39) missense probably damaging 0.97
R7880:Kctd18 UTSW 1 58,006,778 (GRCm39) missense possibly damaging 0.89
R8365:Kctd18 UTSW 1 57,998,311 (GRCm39) missense probably damaging 0.99
R8728:Kctd18 UTSW 1 58,002,289 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCATGTAGGTGATGAAGTAGGC -3'
(R):5'- TGAGCATGCCCTGGTTCTAAG -3'

Sequencing Primer
(F):5'- GAAGTAGGCTGAGCACATTCACTTC -3'
(R):5'- TCTTGGACCCAGCTCATGAG -3'
Posted On 2016-06-21