Incidental Mutation 'IGL00662:Kctd18'
ID11586
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: 0.084) question?
Stock #IGL00662
Quality Score
Status
Chromosome1
Chromosomal Location57955101-58018956 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57956738 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 127 (T127A)
Ref Sequence ENSEMBL: ENSMUSP00000130952 (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: T294A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110052
Gene: ENSMUSG00000054770
AA Change: T294A

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000159826
AA Change: T127A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125245
Gene: ENSMUSG00000054770
AA Change: T127A

DomainStartEndE-ValueType
SCOP:d1t1da_ 23 65 2e-11 SMART
Blast:BTB 23 107 2e-24 BLAST
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 benign
Transcript: ENSMUST00000163061
SMART Domains Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164963
AA Change: T127A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130952
Gene: ENSMUSG00000054770
AA Change: T127A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,289,896 N587S probably benign Het
Bcar3 C T 3: 122,512,936 A186V probably benign Het
Bcr A T 10: 75,168,100 probably benign Het
Cd207 A G 6: 83,675,926 I74T possibly damaging Het
Cenpn T C 8: 116,928,587 probably null Het
Chuk A T 19: 44,097,210 F228I possibly damaging Het
Cmss1 T C 16: 57,303,729 D233G probably damaging Het
Copg1 C T 6: 87,902,370 T466I possibly damaging Het
Ctsll3 A G 13: 60,798,942 S288P probably benign Het
Ddx58 A G 4: 40,220,389 probably benign Het
Fat3 T A 9: 15,996,427 I2760F possibly damaging Het
Gpi1 A G 7: 34,215,950 probably benign Het
Il18rap C T 1: 40,541,921 R318C probably benign Het
Kcnk9 A G 15: 72,546,075 S69P probably benign Het
Khk T C 5: 30,929,675 probably benign Het
Ncapg T A 5: 45,693,160 S703T possibly damaging Het
Nup98 T A 7: 102,194,987 N47I probably damaging Het
Rad1 A G 15: 10,490,409 N154S probably benign Het
Slc35f5 T A 1: 125,587,424 L438H probably damaging Het
Slc7a2 A G 8: 40,905,622 Y334C possibly damaging Het
Spata17 T C 1: 187,117,339 N124S probably benign Het
Tfap2c T C 2: 172,551,518 Y118H probably damaging Het
Tnpo3 A T 6: 29,565,846 L503* probably null Het
Utrn C T 10: 12,664,961 E1907K probably damaging Het
Vav3 T A 3: 109,528,392 probably benign Het
Vps13a T A 19: 16,704,540 K1033I probably damaging Het
Zfp202 A G 9: 40,211,043 N367S probably benign Het
Other mutations in Kctd18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01153:Kctd18 APN 1 57965391 missense probably damaging 1.00
IGL02513:Kctd18 APN 1 57965400 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 On2012-12-06