Incidental Mutation 'IGL00226:Kctd6'
ID 2156
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd6
Ensembl Gene ENSMUSG00000021752
Gene Name potassium channel tetramerisation domain containing 6
Synonyms 5430433B02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.290) question?
Stock # IGL00226
Quality Score
Status
Chromosome 14
Chromosomal Location 14246186-14255692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8222856 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 233 (R233C)
Ref Sequence ENSEMBL: ENSMUSP00000129059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022271] [ENSMUST00000022272] [ENSMUST00000164598] [ENSMUST00000170111]
AlphaFold Q8BNL5
Predicted Effect probably benign
Transcript: ENSMUST00000022271
SMART Domains Protein: ENSMUSP00000022271
Gene: ENSMUSG00000021751

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 1.2e-28 PFAM
SCOP:d1is2a1 309 478 1e-28 SMART
Pfam:ACOX 492 677 3.2e-68 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000022272
AA Change: R233C

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022272
Gene: ENSMUSG00000021752
AA Change: R233C

DomainStartEndE-ValueType
BTB 12 113 1.29e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164598
SMART Domains Protein: ENSMUSP00000126464
Gene: ENSMUSG00000021751

DomainStartEndE-ValueType
Pfam:Acyl-CoA_ox_N 32 148 6.3e-29 PFAM
Pfam:Acyl-CoA_dh_M 150 260 2.8e-11 PFAM
SCOP:d1is2a1 309 478 1e-28 SMART
Pfam:ACOX 495 675 1.3e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170111
AA Change: R233C

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129059
Gene: ENSMUSG00000021752
AA Change: R233C

DomainStartEndE-ValueType
BTB 12 113 1.29e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik C A 3: 36,533,690 (GRCm39) probably benign Het
Ankib1 G A 5: 3,777,573 (GRCm39) S439L probably benign Het
Cdcp3 T A 7: 130,839,823 (GRCm39) probably null Het
Cpd G T 11: 76,688,615 (GRCm39) H886N probably benign Het
Dhrs7 A G 12: 72,706,124 (GRCm39) C94R probably damaging Het
Dmxl2 T A 9: 54,323,277 (GRCm39) H1369L probably damaging Het
Dnah5 A G 15: 28,272,488 (GRCm39) N1068S probably benign Het
Dop1a T A 9: 86,433,732 (GRCm39) D2329E possibly damaging Het
Eif1ad A G 19: 5,418,212 (GRCm39) probably benign Het
Fam149a T C 8: 45,792,380 (GRCm39) R693G probably damaging Het
Fbxw18 T A 9: 109,522,411 (GRCm39) T153S probably benign Het
Glg1 A T 8: 111,886,481 (GRCm39) C1104S probably damaging Het
Jak3 T C 8: 72,134,341 (GRCm39) probably benign Het
Kpna3 A G 14: 61,611,737 (GRCm39) V300A possibly damaging Het
Msh5 A T 17: 35,248,857 (GRCm39) Y725* probably null Het
Myh2 T C 11: 67,076,059 (GRCm39) S749P possibly damaging Het
Or2ag15 T A 7: 106,340,908 (GRCm39) T78S probably benign Het
Or4c110 A G 2: 88,831,683 (GRCm39) probably benign Het
Or5ac17 A T 16: 59,036,859 (GRCm39) M39K probably damaging Het
Or8g19 T A 9: 39,056,053 (GRCm39) I219N possibly damaging Het
Pdcd1 A G 1: 93,967,860 (GRCm39) probably benign Het
Pde5a T A 3: 122,588,006 (GRCm39) F391I probably damaging Het
Ptpn12 A C 5: 21,203,666 (GRCm39) S371A probably damaging Het
Sec16b A G 1: 157,365,900 (GRCm39) Y254C probably damaging Het
Slc2a10 G A 2: 165,356,700 (GRCm39) C120Y probably damaging Het
Spink5 G A 18: 44,120,938 (GRCm39) probably benign Het
Svil A G 18: 5,099,045 (GRCm39) Q1250R probably benign Het
Tph1 G T 7: 46,306,294 (GRCm39) N222K probably benign Het
Vmn2r83 A T 10: 79,314,805 (GRCm39) D351V probably damaging Het
Zfp54 A G 17: 21,653,821 (GRCm39) D105G possibly damaging Het
Zfp623 T C 15: 75,820,052 (GRCm39) I336T probably damaging Het
Other mutations in Kctd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Kctd6 APN 14 8,222,656 (GRCm38) missense possibly damaging 0.92
R1735:Kctd6 UTSW 14 8,222,253 (GRCm38) missense probably damaging 1.00
R2100:Kctd6 UTSW 14 8,222,239 (GRCm38) missense possibly damaging 0.90
R2167:Kctd6 UTSW 14 8,222,683 (GRCm38) missense probably benign
R4276:Kctd6 UTSW 14 8,222,806 (GRCm38) missense probably damaging 0.98
R4278:Kctd6 UTSW 14 8,222,806 (GRCm38) missense probably damaging 0.98
Posted On 2011-12-09