Incidental Mutation 'R6911:Kctd17'
ID 539047
Institutional Source Beutler Lab
Gene Symbol Kctd17
Ensembl Gene ENSMUSG00000033287
Gene Name potassium channel tetramerisation domain containing 17
Synonyms 2900008M13Rik
MMRRC Submission 045003-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6911 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 78312764-78323503 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78318206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 95 (E95G)
Ref Sequence ENSEMBL: ENSMUSP00000155227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089414] [ENSMUST00000159771] [ENSMUST00000162321] [ENSMUST00000162517] [ENSMUST00000166142] [ENSMUST00000229290] [ENSMUST00000229622]
AlphaFold E0CYQ0
Predicted Effect probably damaging
Transcript: ENSMUST00000089414
AA Change: E168G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000086835
Gene: ENSMUSG00000033287
AA Change: E168G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BTB 31 132 1.76e-16 SMART
coiled coil region 208 244 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159771
AA Change: E161G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125574
Gene: ENSMUSG00000033287
AA Change: E161G

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
BTB 24 125 1.76e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000162321
AA Change: E122G

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125680
Gene: ENSMUSG00000033287
AA Change: E122G

DomainStartEndE-ValueType
BTB 3 86 9.93e-2 SMART
low complexity region 168 195 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162517
AA Change: E168G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124290
Gene: ENSMUSG00000033287
AA Change: E168G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BTB 31 132 1.76e-16 SMART
low complexity region 227 235 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000125421
Gene: ENSMUSG00000033287
AA Change: E83G

DomainStartEndE-ValueType
SCOP:d3kvt__ 2 36 3e-8 SMART
Blast:BTB 2 98 6e-30 BLAST
PDB:3DRY|E 2 127 4e-69 PDB
low complexity region 130 157 N/A INTRINSIC
low complexity region 160 187 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166142
AA Change: E168G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133210
Gene: ENSMUSG00000033287
AA Change: E168G

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
BTB 31 132 1.76e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000229290
AA Change: E66G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000229622
AA Change: E95G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6288 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a conserved family of potassium channel tetramerization domain (KCTD)-containing proteins. The encoded protein functions in ciliogenesis by acting as a substrate adaptor for the cullin3-based ubiquitin-conjugating enzyme E3 ligase, and targets trichoplein, a keratin-binding protein, for degradation via polyubiquitinylation. A mutation in this gene is associated with autosomal dominant myoclonic dystonia 26. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,948,068 (GRCm39) M655K probably benign Het
Adam34l A T 8: 44,078,146 (GRCm39) F693I probably benign Het
Amt G T 9: 108,178,428 (GRCm39) probably null Het
Anapc7 A T 5: 122,578,343 (GRCm39) K443* probably null Het
Apcs A G 1: 172,721,752 (GRCm39) V198A probably benign Het
Atp2a1 A G 7: 126,056,008 (GRCm39) V271A probably damaging Het
Bltp2 T A 11: 78,159,179 (GRCm39) I459N probably damaging Het
Cdh20 T C 1: 104,912,411 (GRCm39) I555T possibly damaging Het
Cgnl1 T C 9: 71,563,497 (GRCm39) E810G possibly damaging Het
Cntnap5c A G 17: 58,199,009 (GRCm39) D101G probably damaging Het
Coq7 T A 7: 118,109,385 (GRCm39) H221L unknown Het
Depdc5 A T 5: 33,081,536 (GRCm39) Q566L probably damaging Het
Dync1i2 G A 2: 71,077,446 (GRCm39) V233I probably benign Het
Erp44 G T 4: 48,204,268 (GRCm39) H298N probably benign Het
Fam162a A G 16: 35,866,747 (GRCm39) probably null Het
Fancd2 A G 6: 113,525,346 (GRCm39) E274G probably damaging Het
Fkbp15 G T 4: 62,258,527 (GRCm39) Q147K probably damaging Het
Ganab T A 19: 8,885,152 (GRCm39) probably null Het
Gfm1 T C 3: 67,358,636 (GRCm39) V409A possibly damaging Het
Gnptab G A 10: 88,267,258 (GRCm39) G450S probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grid1 A T 14: 34,542,185 (GRCm39) M1L probably benign Het
Helz C T 11: 107,510,051 (GRCm39) T558I probably benign Het
Htra4 A G 8: 25,515,721 (GRCm39) V439A probably damaging Het
Kif18b T C 11: 102,807,206 (GRCm39) D43G probably damaging Het
Lrpprc G A 17: 85,063,711 (GRCm39) S550L possibly damaging Het
Lrrfip1 T A 1: 91,042,529 (GRCm39) C311* probably null Het
Mcoln2 C T 3: 145,898,011 (GRCm39) T44I probably damaging Het
Med13l A G 5: 118,893,723 (GRCm39) T2010A possibly damaging Het
Med23 C T 10: 24,778,079 (GRCm39) T803M probably damaging Het
Mfsd13a T C 19: 46,357,716 (GRCm39) F290S probably damaging Het
Myh13 C T 11: 67,245,753 (GRCm39) Q1095* probably null Het
Nktr C A 9: 121,583,392 (GRCm39) Y93* probably null Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Ntrk2 A T 13: 59,007,029 (GRCm39) E210D probably damaging Het
Nup210 G T 6: 91,007,112 (GRCm39) A568E probably damaging Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or2y1g A G 11: 49,171,634 (GRCm39) I220V probably benign Het
Or4g16 A G 2: 111,136,618 (GRCm39) T23A probably benign Het
Or5as1 T A 2: 86,980,111 (GRCm39) K298I probably damaging Het
Pdlim5 T C 3: 142,010,076 (GRCm39) I289V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Per1 C T 11: 68,994,083 (GRCm39) T443M probably damaging Het
Plxna1 A G 6: 89,297,956 (GRCm39) V1774A probably damaging Het
Poteg A G 8: 27,940,326 (GRCm39) Y165C probably damaging Het
Prlr A G 15: 10,329,270 (GRCm39) T582A probably benign Het
Psma5 A G 3: 108,172,464 (GRCm39) E60G probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 T C 13: 11,842,445 (GRCm39) N484S possibly damaging Het
Sec31a A G 5: 100,541,123 (GRCm39) I328T possibly damaging Het
Slc12a2 G T 18: 58,052,541 (GRCm39) V787L probably benign Het
St14 C T 9: 31,018,081 (GRCm39) R177Q probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tom1l1 G T 11: 90,534,987 (GRCm39) probably null Het
Ttf1 A G 2: 28,954,863 (GRCm39) R76G probably benign Het
Ube4a C T 9: 44,854,056 (GRCm39) E581K probably damaging Het
Vmn2r114 A G 17: 23,510,104 (GRCm39) V792A probably damaging Het
Wdr11 T C 7: 129,208,819 (GRCm39) I430T probably benign Het
Xkr4 T C 1: 3,741,544 (GRCm39) K10E possibly damaging Het
Zfp451 T C 1: 33,842,537 (GRCm39) probably benign Het
Other mutations in Kctd17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02079:Kctd17 APN 15 78,314,356 (GRCm39) splice site probably benign
IGL02209:Kctd17 APN 15 78,319,792 (GRCm39) missense probably damaging 1.00
IGL03132:Kctd17 APN 15 78,319,887 (GRCm39) missense probably damaging 1.00
R4676:Kctd17 UTSW 15 78,319,959 (GRCm39) unclassified probably benign
R4793:Kctd17 UTSW 15 78,317,224 (GRCm39) missense probably damaging 1.00
R5428:Kctd17 UTSW 15 78,312,982 (GRCm39) missense probably damaging 1.00
R5590:Kctd17 UTSW 15 78,321,502 (GRCm39) unclassified probably benign
R5779:Kctd17 UTSW 15 78,321,333 (GRCm39) unclassified probably benign
R6249:Kctd17 UTSW 15 78,314,239 (GRCm39) splice site probably null
R7266:Kctd17 UTSW 15 78,317,214 (GRCm39) missense probably damaging 1.00
R7324:Kctd17 UTSW 15 78,319,842 (GRCm39) missense probably damaging 1.00
R7706:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R7707:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R7967:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R7968:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R7970:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R7972:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R7973:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R8097:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R8098:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R8099:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R8100:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R8333:Kctd17 UTSW 15 78,321,113 (GRCm39) unclassified probably benign
R9025:Kctd17 UTSW 15 78,314,282 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTCTATGTTATGGGCTGG -3'
(R):5'- GATCTCCTACACCTGAGCTGTC -3'

Sequencing Primer
(F):5'- CCTCTATGTTATGGGCTGGGGAAG -3'
(R):5'- TACACCTGAGCTGTCCCTGAG -3'
Posted On 2018-11-06