Incidental Mutation 'R6252:Kctd15'
ID 506283
Institutional Source Beutler Lab
Gene Symbol Kctd15
Ensembl Gene ENSMUSG00000030499
Gene Name potassium channel tetramerisation domain containing 15
Synonyms MGC25497
MMRRC Submission 044369-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6252 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 34338439-34356157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34341348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
Ref Sequence ENSEMBL: ENSMUSP00000103705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032709] [ENSMUST00000108069] [ENSMUST00000108070]
AlphaFold Q8K0E1
Predicted Effect probably benign
Transcript: ENSMUST00000032709
AA Change: V193A

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032709
Gene: ENSMUSG00000030499
AA Change: V193A

DomainStartEndE-ValueType
BTB 56 158 8.5e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108069
AA Change: V193A

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103704
Gene: ENSMUSG00000030499
AA Change: V193A

DomainStartEndE-ValueType
BTB 56 158 8.5e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108070
AA Change: V193A

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103705
Gene: ENSMUSG00000030499
AA Change: V193A

DomainStartEndE-ValueType
BTB 56 158 8.5e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206863
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,305 (GRCm39) I393V probably benign Het
Agl C T 3: 116,580,878 (GRCm39) probably null Het
Ankrd11 T C 8: 123,620,561 (GRCm39) E1097G possibly damaging Het
Aoc1 A G 6: 48,883,015 (GRCm39) H297R probably benign Het
AW146154 G A 7: 41,130,811 (GRCm39) P102S probably benign Het
Cap1 A G 4: 122,766,193 (GRCm39) V15A probably benign Het
Cavin2 A G 1: 51,328,828 (GRCm39) N95S probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Col8a1 A G 16: 57,447,368 (GRCm39) V714A unknown Het
Crispld1 A G 1: 17,819,731 (GRCm39) E243G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Elapor2 T C 5: 9,460,693 (GRCm39) Y205H probably damaging Het
Epg5 T C 18: 78,028,382 (GRCm39) F1308L probably damaging Het
Eqtn A T 4: 94,796,006 (GRCm39) S232T probably damaging Het
Esyt1 T C 10: 128,347,771 (GRCm39) E973G probably benign Het
Fbxl13 T A 5: 21,826,499 (GRCm39) M96L possibly damaging Het
Frem2 A T 3: 53,479,869 (GRCm39) F1941L probably damaging Het
Gbf1 T C 19: 46,259,995 (GRCm39) V1050A probably benign Het
Hecw1 T C 13: 14,446,664 (GRCm39) H721R probably damaging Het
Idh1 T G 1: 65,207,690 (GRCm39) Q163P probably benign Het
Npas3 A G 12: 54,115,673 (GRCm39) Y834C probably damaging Het
Opn4 C T 14: 34,316,788 (GRCm39) V334I probably benign Het
Or10w3 A T 19: 13,704,419 (GRCm39) S265C probably damaging Het
Pappa A G 4: 65,107,649 (GRCm39) M687V probably benign Het
Pcdhgc5 T C 18: 37,954,583 (GRCm39) F619S probably damaging Het
Pdlim2 G T 14: 70,405,137 (GRCm39) Q243K probably damaging Het
Pkd1 T C 17: 24,800,200 (GRCm39) L2987P probably damaging Het
Plcz1 A G 6: 139,953,329 (GRCm39) probably null Het
Prpf6 C T 2: 181,289,156 (GRCm39) A615V probably damaging Het
Pwp1 T C 10: 85,710,373 (GRCm39) V5A probably benign Het
Rsph10b T A 5: 143,873,939 (GRCm39) D13E possibly damaging Het
Slc44a3 T A 3: 121,307,386 (GRCm39) D200V probably damaging Het
Spata31h1 T C 10: 82,119,588 (GRCm39) Q4474R probably benign Het
St7l T C 3: 104,826,819 (GRCm39) probably null Het
Stc2 T A 11: 31,310,346 (GRCm39) D230V probably damaging Het
Syne2 C A 12: 76,016,210 (GRCm39) T3264K probably benign Het
Trp73 C A 4: 154,148,854 (GRCm39) D252Y probably damaging Het
Ubr1 T C 2: 120,737,376 (GRCm39) D1056G probably benign Het
Vcan C T 13: 89,839,339 (GRCm39) W1108* probably null Het
Zfp772 G T 7: 7,207,018 (GRCm39) S224R possibly damaging Het
Zfp804b A T 5: 6,819,478 (GRCm39) V1159E probably damaging Het
Zfp981 T G 4: 146,621,970 (GRCm39) S298R probably benign Het
Zmat3 A G 3: 32,395,770 (GRCm39) F246L possibly damaging Het
Zranb1 A G 7: 132,585,633 (GRCm39) T720A probably benign Het
Other mutations in Kctd15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Kctd15 APN 7 34,350,170 (GRCm39) critical splice donor site probably null
R0646:Kctd15 UTSW 7 34,344,306 (GRCm39) missense probably damaging 0.99
R1598:Kctd15 UTSW 7 34,341,417 (GRCm39) missense probably damaging 1.00
R2276:Kctd15 UTSW 7 34,344,366 (GRCm39) missense possibly damaging 0.48
R5193:Kctd15 UTSW 7 34,344,282 (GRCm39) missense probably damaging 0.99
R5628:Kctd15 UTSW 7 34,339,720 (GRCm39) missense probably damaging 1.00
R6046:Kctd15 UTSW 7 34,349,547 (GRCm39) missense possibly damaging 0.74
R8260:Kctd15 UTSW 7 34,344,267 (GRCm39) missense possibly damaging 0.81
R8917:Kctd15 UTSW 7 34,341,508 (GRCm39) missense probably damaging 1.00
R9334:Kctd15 UTSW 7 34,341,483 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GCATCGACACATTGTTGCC -3'
(R):5'- TGAGGAGGCAAGGTACTACC -3'

Sequencing Primer
(F):5'- ACACATTGTTGCCTTTTCTGTATGG -3'
(R):5'- GCAAGGTACTACCAGCTGCAG -3'
Posted On 2018-03-15