Incidental Mutation 'IGL02513:Kctd18'
ID296645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd18
Ensembl Gene ENSMUSG00000054770
Gene Namepotassium channel tetramerisation domain containing 18
Synonyms4932411A20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02513
Quality Score
Status
Chromosome1
Chromosomal Location57955101-58018956 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57965400 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 112 (Y112H)
Ref Sequence ENSEMBL: ENSMUSP00000110052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114410] [ENSMUST00000159826] [ENSMUST00000161608] [ENSMUST00000163061] [ENSMUST00000164963]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000068000
Predicted Effect probably damaging
Transcript: ENSMUST00000114410
AA Change: Y112H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: Y112H

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159826
SMART Domains Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770

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: Y112H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125153
Gene: ENSMUSG00000054770
AA Change: Y112H

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163006
Predicted Effect probably damaging
Transcript: ENSMUST00000163061
AA Change: Y112H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770
AA Change: Y112H

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164963
SMART Domains Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770

DomainStartEndE-ValueType
SCOP:d1t1da_ 23 65 2e-11 SMART
Blast:BTB 23 107 7e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189298
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apob G T 12: 7,992,979 V787F probably benign Het
Atg14 T C 14: 47,548,994 I268V probably benign Het
Atg14 T A 14: 47,545,624 probably benign Het
Atm A T 9: 53,497,262 probably benign Het
Atp5s A T 12: 69,741,045 Y85F probably benign Het
Ccdc9 A G 7: 16,284,509 probably benign Het
Cers6 T C 2: 69,068,669 F217S probably benign Het
Crebbp A C 16: 4,126,605 probably null Het
Csmd1 T A 8: 15,999,869 probably benign Het
Eml1 T A 12: 108,530,312 V609E probably damaging Het
Fam155a T A 8: 9,207,930 D406V probably benign Het
Fryl A G 5: 73,065,293 S204P probably damaging Het
Gpr152 A G 19: 4,142,844 D128G probably damaging Het
Itgal T A 7: 127,328,672 V1013D possibly damaging Het
Kdm4d T A 9: 14,464,554 T3S probably benign Het
Lrp1b C T 2: 41,110,753 probably null Het
Mex3c T A 18: 73,590,289 D484E possibly damaging Het
Nat14 T C 7: 4,924,051 V74A possibly damaging Het
Olfr11 A G 13: 21,639,340 F61S probably damaging Het
Pabpc2 C T 18: 39,775,140 T486I probably benign Het
Pgm1 A G 5: 64,102,946 probably benign Het
Pkn3 T A 2: 30,083,137 I353N probably damaging Het
Rbm44 T A 1: 91,155,538 S594R possibly damaging Het
Rrbp1 C T 2: 143,988,430 A606T possibly damaging Het
Tcof1 A G 18: 60,831,778 V623A possibly damaging Het
Tg A G 15: 66,705,274 E1482G probably benign Het
Uba1 A G X: 20,675,646 T546A probably benign Het
Vmn2r37 T C 7: 9,217,935 K310E probably benign Het
Zbtb38 A T 9: 96,687,073 W653R probably damaging Het
Zdhhc19 A T 16: 32,499,622 I99F probably damaging Het
Zfp236 T C 18: 82,630,114 Y974C probably damaging Het
Other mutations in Kctd18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Kctd18 APN 1 57956738 missense probably damaging 1.00
IGL01153:Kctd18 APN 1 57965391 missense probably damaging 1.00
P0043:Kctd18 UTSW 1 57967563 missense probably damaging 1.00
R1823:Kctd18 UTSW 1 57956365 missense probably benign 0.05
R1918:Kctd18 UTSW 1 57959220 missense probably damaging 1.00
R1969:Kctd18 UTSW 1 57967620 missense probably benign 0.03
R1971:Kctd18 UTSW 1 57967620 missense probably benign 0.03
R2247:Kctd18 UTSW 1 57967642 missense possibly damaging 0.58
R4849:Kctd18 UTSW 1 57961993 missense probably damaging 0.99
R4922:Kctd18 UTSW 1 57965548 intron probably benign
R5165:Kctd18 UTSW 1 57959236 missense probably damaging 1.00
R5377:Kctd18 UTSW 1 57963093 missense probably benign 0.43
R5747:Kctd18 UTSW 1 57962024 intron probably benign
R5782:Kctd18 UTSW 1 57959237 missense probably damaging 1.00
R7132:Kctd18 UTSW 1 57967578 nonsense probably null
R7253:Kctd18 UTSW 1 57961956 nonsense probably null
R7272:Kctd18 UTSW 1 57956551 missense probably damaging 0.97
Posted On2015-04-16