Incidental Mutation 'P0043:Kctd18'
ID 7831
Institutional Source Beutler Lab
Gene Symbol Kctd18
Ensembl Gene ENSMUSG00000054770
Gene Name potassium channel tetramerisation domain containing 18
Synonyms 4932411A20Rik
MMRRC Submission 038291-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # P0043 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 57994260-58009298 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 58006722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 43 (R43C)
Ref Sequence ENSEMBL: ENSMUSP00000110052 (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: R43C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: R43C

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000159826
AA Change: R43C
SMART Domains Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770
AA Change: R43C

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 damaging
Transcript: ENSMUST00000161608
AA Change: R43C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770
AA Change: R43C

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000164963
AA Change: R43C
SMART Domains Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770
AA Change: R43C

DomainStartEndE-ValueType
SCOP:d1t1da_ 23 65 2e-11 SMART
Blast:BTB 23 107 7e-24 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000163061
AA Change: R43C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770
AA Change: R43C

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189298
Meta Mutation Damage Score 0.5870 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.1%
  • 10x: 50.1%
  • 20x: 26.7%
Validation Efficiency 74% (145/195)
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chn1 A T 2: 73,454,509 (GRCm39) V247E probably damaging Het
Col28a1 T A 6: 8,168,152 (GRCm39) probably benign Het
Cxcl5 A G 5: 90,907,826 (GRCm39) I85M probably damaging Het
Fnip1 A G 11: 54,394,051 (GRCm39) E829G probably benign Het
Kidins220 T A 12: 25,058,155 (GRCm39) F629I probably damaging Het
Lamb1 T C 12: 31,328,620 (GRCm39) S195P probably damaging Het
Lrrc74b A T 16: 17,376,023 (GRCm39) probably benign Het
Mrpl30 A G 1: 37,937,259 (GRCm39) T133A probably benign Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Per1 G T 11: 68,992,869 (GRCm39) probably benign Het
Ptprq C A 10: 107,416,086 (GRCm39) M1737I probably benign Het
Ropn1l A C 15: 31,457,447 (GRCm39) probably benign Het
Sfrp4 A G 13: 19,807,765 (GRCm39) I55V probably benign Het
Spata31 G A 13: 65,068,820 (GRCm39) probably null Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Ttn A G 2: 76,628,358 (GRCm39) S12855P probably damaging Het
Zscan10 C T 17: 23,828,594 (GRCm39) R302* 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
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
R5165:Kctd18 UTSW 1 57,998,395 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-10-29