Incidental Mutation 'IGL00226:Kctd6'
ID2156
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd6
Ensembl Gene ENSMUSG00000021752
Gene Namepotassium channel tetramerisation domain containing 6
Synonyms5430433B02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL00226
Quality Score
Status
Chromosome14
Chromosomal Location8214140-8223563 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 8222856 bp
ZygosityHeterozygous
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]
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: 36,479,541 probably benign Het
5430419D17Rik T A 7: 131,238,094 probably null Het
Ankib1 G A 5: 3,727,573 S439L probably benign Het
Cpd G T 11: 76,797,789 H886N probably benign Het
Dhrs7 A G 12: 72,659,350 C94R probably damaging Het
Dmxl2 T A 9: 54,415,993 H1369L probably damaging Het
Dnah5 A G 15: 28,272,342 N1068S probably benign Het
Dopey1 T A 9: 86,551,679 D2329E possibly damaging Het
Eif1ad A G 19: 5,368,184 probably benign Het
Fam149a T C 8: 45,339,343 R693G probably damaging Het
Fbxw18 T A 9: 109,693,343 T153S probably benign Het
Glg1 A T 8: 111,159,849 C1104S probably damaging Het
Jak3 T C 8: 71,681,697 probably benign Het
Kpna3 A G 14: 61,374,288 V300A possibly damaging Het
Msh5 A T 17: 35,029,881 Y725* probably null Het
Myh2 T C 11: 67,185,233 S749P possibly damaging Het
Olfr1215 A G 2: 89,001,339 probably benign Het
Olfr199 A T 16: 59,216,496 M39K probably damaging Het
Olfr27 T A 9: 39,144,757 I219N possibly damaging Het
Olfr697 T A 7: 106,741,701 T78S probably benign Het
Pdcd1 A G 1: 94,040,135 probably benign Het
Pde5a T A 3: 122,794,357 F391I probably damaging Het
Ptpn12 A C 5: 20,998,668 S371A probably damaging Het
Sec16b A G 1: 157,538,330 Y254C probably damaging Het
Slc2a10 G A 2: 165,514,780 C120Y probably damaging Het
Spink5 G A 18: 43,987,871 probably benign Het
Svil A G 18: 5,099,045 Q1250R probably benign Het
Tph1 G T 7: 46,656,870 N222K probably benign Het
Vmn2r83 A T 10: 79,478,971 D351V probably damaging Het
Zfp54 A G 17: 21,433,559 D105G possibly damaging Het
Zfp623 T C 15: 75,948,203 I336T probably damaging Het
Other mutations in Kctd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Kctd6 APN 14 8222656 missense possibly damaging 0.92
R1735:Kctd6 UTSW 14 8222253 missense probably damaging 1.00
R2100:Kctd6 UTSW 14 8222239 missense possibly damaging 0.90
R2167:Kctd6 UTSW 14 8222683 missense probably benign
R4276:Kctd6 UTSW 14 8222806 missense probably damaging 0.98
R4278:Kctd6 UTSW 14 8222806 missense probably damaging 0.98
Posted On2011-12-09