Incidental Mutation 'R4276:Kctd6'
ID 322708
Institutional Source Beutler Lab
Gene Symbol Kctd6
Ensembl Gene ENSMUSG00000021752
Gene Name potassium channel tetramerisation domain containing 6
Synonyms 5430433B02Rik
MMRRC Submission 041647-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.290) question?
Stock # R4276 (G1)
Quality Score 225
Status 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: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 C A 9: 26,889,745 (GRCm39) Q316H probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Brix1 T C 15: 10,481,833 (GRCm39) D101G possibly damaging Het
Cfap36 A G 11: 29,180,584 (GRCm39) probably null Het
Chrnb3 A G 8: 27,883,779 (GRCm39) N172S probably damaging Het
Csnk1e T C 15: 79,313,967 (GRCm39) N37S probably damaging Het
Ern1 T C 11: 106,298,007 (GRCm39) I705V probably benign Het
Gimap8 T C 6: 48,636,017 (GRCm39) M594T probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Gpc6 A G 14: 117,673,328 (GRCm39) D195G probably damaging Het
Gpcpd1 T C 2: 132,382,207 (GRCm39) K412E probably damaging Het
Insm1 C A 2: 146,064,888 (GRCm39) H235N probably benign Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Kbtbd8 T C 6: 95,103,914 (GRCm39) V521A probably damaging Het
Kcna5 T C 6: 126,510,329 (GRCm39) T600A probably damaging Het
Lbx1 C A 19: 45,223,528 (GRCm39) V47L probably benign Het
Mefv A T 16: 3,533,433 (GRCm39) N279K probably benign Het
Mroh1 T G 15: 76,278,051 (GRCm39) V24G probably damaging Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Or4f4b G T 2: 111,313,849 (GRCm39) V25L probably damaging Het
Or8u3-ps G A 2: 85,952,623 (GRCm39) A119T probably damaging Het
Padi2 A G 4: 140,663,859 (GRCm39) E404G possibly damaging Het
Pitpnb A G 5: 111,519,258 (GRCm39) probably null Het
Plxna4 T C 6: 32,177,883 (GRCm39) N1006S probably benign Het
Proc A G 18: 32,268,967 (GRCm39) V6A probably benign Het
Prrc2c T A 1: 162,501,160 (GRCm39) K1214N probably damaging Het
Pstpip2 A G 18: 77,949,556 (GRCm39) I122V probably benign Het
Pus10 A G 11: 23,656,895 (GRCm39) E207G probably damaging Het
Rabl2 G A 15: 89,468,391 (GRCm39) probably benign Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Rtl6 T A 15: 84,441,397 (GRCm39) probably benign Het
Scn7a T G 2: 66,514,407 (GRCm39) K1122N probably damaging Het
Spag16 A G 1: 69,912,640 (GRCm39) probably benign Het
Spata13 C T 14: 60,993,745 (GRCm39) R396C probably damaging Het
Stmn4 A T 14: 66,593,166 (GRCm39) probably benign Het
Syp G T X: 7,504,931 (GRCm39) probably benign Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Tnrc6b A G 15: 80,786,172 (GRCm39) I1239V probably benign Het
Ubr3 C T 2: 69,768,731 (GRCm39) Q510* probably null Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn2r93 T C 17: 18,525,092 (GRCm39) I250T possibly damaging 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
R4278:Kctd6 UTSW 14 8,222,806 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAGGTCCACTCCTTACTCGAAG -3'
(R):5'- ACACAAAACTTCCTTCTGGTCC -3'

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