Incidental Mutation 'R0381:Kctd5'
ID 30989
Institutional Source Beutler Lab
Gene Symbol Kctd5
Ensembl Gene ENSMUSG00000016946
Gene Name potassium channel tetramerisation domain containing 5
Synonyms 2610030N08Rik
MMRRC Submission 038587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0381 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 24266708-24292459 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 24278194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017090]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000017090
SMART Domains Protein: ENSMUSP00000017090
Gene: ENSMUSG00000016946

DomainStartEndE-ValueType
low complexity region 8 31 N/A INTRINSIC
BTB 44 146 2.76e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127755
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,757,858 (GRCm39) V1297A possibly damaging Het
Agbl2 C T 2: 90,614,442 (GRCm39) H25Y probably damaging Het
Akap11 A T 14: 78,750,990 (GRCm39) W466R probably benign Het
Ccdc66 T A 14: 27,213,890 (GRCm39) Q471L probably damaging Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
F13b A G 1: 139,438,597 (GRCm39) K334E probably damaging Het
Fam186a A C 15: 99,840,055 (GRCm39) I2063R probably damaging Het
Fcrl5 T C 3: 87,353,767 (GRCm39) Y371H probably damaging Het
Fnbp1 C T 2: 30,923,041 (GRCm39) G549D probably benign Het
Fndc3a A G 14: 72,794,067 (GRCm39) Y869H probably benign Het
Gm7592 A G 1: 85,454,437 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hmcn1 C T 1: 150,479,562 (GRCm39) C4634Y probably damaging Het
Kics2 T C 10: 121,581,280 (GRCm39) Y94H probably damaging Het
Mettl24 C A 10: 40,622,386 (GRCm39) H203N probably damaging Het
Mitf A G 6: 97,970,104 (GRCm39) E17G probably damaging Het
Mmut T A 17: 41,248,149 (GRCm39) W59R probably benign Het
Mrc1 G A 2: 14,312,720 (GRCm39) D881N probably benign Het
Mrm1 T C 11: 84,709,509 (GRCm39) T183A possibly damaging Het
Mylk G A 16: 34,605,344 (GRCm39) probably null Het
Nab2 G A 10: 127,500,936 (GRCm39) A19V probably damaging Het
Ntsr2 T A 12: 16,709,719 (GRCm39) Y333* probably null Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sypl2 T C 3: 108,133,473 (GRCm39) E32G possibly damaging Het
Tasp1 T C 2: 139,793,403 (GRCm39) K258E probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm4 G T 7: 96,555,088 (GRCm39) V2561F probably damaging Het
Tmc1 T C 19: 20,776,409 (GRCm39) Y650C probably damaging Het
Trim34b T C 7: 103,979,062 (GRCm39) L103P probably damaging Het
Usp47 T C 7: 111,662,600 (GRCm39) probably null Het
Vmn1r201 T A 13: 22,659,193 (GRCm39) W136R probably damaging Het
Vmn2r104 A T 17: 20,268,264 (GRCm39) Y68* probably null Het
Wscd2 T A 5: 113,689,192 (GRCm39) L66Q probably damaging Het
Other mutations in Kctd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Kctd5 APN 17 24,276,749 (GRCm39) missense probably damaging 1.00
IGL01393:Kctd5 APN 17 24,278,292 (GRCm39) splice site probably null
R2121:Kctd5 UTSW 17 24,274,940 (GRCm39) missense probably benign
R2122:Kctd5 UTSW 17 24,274,940 (GRCm39) missense probably benign
R3729:Kctd5 UTSW 17 24,278,212 (GRCm39) missense probably benign 0.02
R3730:Kctd5 UTSW 17 24,278,212 (GRCm39) missense probably benign 0.02
R3731:Kctd5 UTSW 17 24,278,212 (GRCm39) missense probably benign 0.02
R7203:Kctd5 UTSW 17 24,292,209 (GRCm39) missense probably benign 0.26
R9615:Kctd5 UTSW 17 24,292,192 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCTTCATGGCAGACATGGCAGATG -3'
(R):5'- CACAAGAACCTCAGGTTAGAGGCAG -3'

Sequencing Primer
(F):5'- CAGACATGGCAGATGAGGAAG -3'
(R):5'- CTTTGGTCTGATCTAGAAGAAGCTC -3'
Posted On 2013-04-24