Incidental Mutation 'R4278:Kctd6'
ID 322778
Institutional Source Beutler Lab
Gene Symbol Kctd6
Ensembl Gene ENSMUSG00000021752
Gene Name potassium channel tetramerisation domain containing 6
Synonyms 5430433B02Rik
MMRRC Submission 068968-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R4278 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 14246186-14255692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 8222806 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 216 (R216P)
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 probably damaging
Transcript: ENSMUST00000022272
AA Change: R216P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022272
Gene: ENSMUSG00000021752
AA Change: R216P

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 probably damaging
Transcript: ENSMUST00000170111
AA Change: R216P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129059
Gene: ENSMUSG00000021752
AA Change: R216P

DomainStartEndE-ValueType
BTB 12 113 1.29e-9 SMART
Meta Mutation Damage Score 0.2412 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anln A G 9: 22,245,296 (GRCm39) probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bltp3b T G 10: 89,642,571 (GRCm39) probably null Het
Capza3 T A 6: 139,987,786 (GRCm39) Y128* probably null Het
Ccdc187 T A 2: 26,172,239 (GRCm39) probably benign Het
Dpp4 T C 2: 62,209,667 (GRCm39) R119G probably damaging Het
Espn T C 4: 152,218,874 (GRCm39) D308G probably damaging Het
Gm9857 T C 3: 108,847,419 (GRCm39) probably benign Het
Hhatl G A 9: 121,613,285 (GRCm39) A470V probably benign Het
Igfals A T 17: 25,100,191 (GRCm39) E427D probably benign Het
Il22ra1 C T 4: 135,478,024 (GRCm39) A365V possibly damaging Het
Lama1 A T 17: 68,098,512 (GRCm39) M1864L probably null Het
Mbd5 T G 2: 49,162,305 (GRCm39) I37S probably damaging Het
Nsf C A 11: 103,821,632 (GRCm39) A5S probably damaging Het
Nsun5 A G 5: 135,398,914 (GRCm39) Y26C probably damaging Het
Or9q1 A G 19: 13,805,793 (GRCm39) probably benign Het
Pitpnm3 C T 11: 71,965,342 (GRCm39) V164I probably damaging Het
Plk2 A G 13: 110,532,637 (GRCm39) K117R probably benign Het
Ppp1r13b G T 12: 111,796,818 (GRCm39) N908K probably damaging Het
Rapgef4 T A 2: 72,028,739 (GRCm39) N385K possibly damaging Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Rhbdd3 C T 11: 5,055,329 (GRCm39) T226I probably benign Het
Slc27a3 C T 3: 90,296,495 (GRCm39) probably benign Het
Slc30a2 G A 4: 134,073,360 (GRCm39) E136K probably null Het
Sptlc2 A C 12: 87,382,925 (GRCm39) I393R probably benign Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r80 G T 7: 11,927,454 (GRCm39) C188F probably benign Het
Vwa2 C A 19: 56,891,915 (GRCm39) Q283K probably benign Het
Zfp52 A G 17: 21,782,132 (GRCm39) K660R probably benign Het
Other mutations in Kctd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Kctd6 APN 14 8,222,856 (GRCm38) missense possibly damaging 0.58
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
Predicted Primers PCR Primer
(F):5'- AGGTCCACTCCTTACTCGAAG -3'
(R):5'- CACACAAAACTTCCTTCTGGTC -3'

Sequencing Primer
(F):5'- GCATCTCAAACTATTTCACCAAGTGG -3'
(R):5'- TGAGCTTGCAGGAAGTTC -3'
Posted On 2015-06-20