Incidental Mutation 'IGL01874:Kctd3'
ID178835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd3
Ensembl Gene ENSMUSG00000026608
Gene Namepotassium channel tetramerisation domain containing 3
SynonymsE330032J19Rik, NY-REN-45, 4930438A20Rik
Accession Numbers

Genbank: NM_172650; MGI: 2444629

Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL01874
Quality Score
Status
Chromosome1
Chromosomal Location188971095-189007841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 188996991 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000082821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085678] [ENSMUST00000193143]
Predicted Effect probably damaging
Transcript: ENSMUST00000085678
AA Change: V123A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: V123A

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
BTB 18 118 1.74e-15 SMART
Blast:WD40 184 263 5e-50 BLAST
WD40 269 305 1.32e2 SMART
WD40 411 449 7.43e-1 SMART
WD40 519 569 2.66e0 SMART
low complexity region 619 637 N/A INTRINSIC
low complexity region 774 801 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000193143
AA Change: V123A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: V123A

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
BTB 18 118 1.1e-17 SMART
Blast:WD40 184 263 3e-49 BLAST
WD40 269 305 8.1e-1 SMART
WD40 411 449 4.7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195787
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Cdc42 T C 4: 137,336,070 I4V probably benign Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Dgat1 A G 15: 76,503,041 F349L probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fam129b A T 2: 32,905,767 probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Nol6 A C 4: 41,115,412 L1135R probably damaging Het
Ntan1 T C 16: 13,835,213 F278L probably benign Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Skiv2l T C 17: 34,841,209 N114D probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F probably benign Het
Other mutations in Kctd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Kctd3 APN 1 188972196 missense probably damaging 1.00
IGL00766:Kctd3 APN 1 188995776 missense probably benign 0.29
IGL01393:Kctd3 APN 1 189000290 missense probably benign 0.03
IGL01966:Kctd3 APN 1 188992662 missense probably damaging 1.00
3-1:Kctd3 UTSW 1 188972257 nonsense probably null
R0026:Kctd3 UTSW 1 188976621 missense probably damaging 1.00
R0142:Kctd3 UTSW 1 188996398 critical splice donor site probably null
R0619:Kctd3 UTSW 1 188978643 missense probably damaging 1.00
R0621:Kctd3 UTSW 1 188981341 missense probably damaging 1.00
R0733:Kctd3 UTSW 1 188997050 splice site probably benign
R0843:Kctd3 UTSW 1 188996973 nonsense probably null
R2393:Kctd3 UTSW 1 188981371 missense probably damaging 1.00
R4004:Kctd3 UTSW 1 188992743 missense probably benign 0.06
R4005:Kctd3 UTSW 1 189001927 missense possibly damaging 0.96
R4091:Kctd3 UTSW 1 188995720 intron probably benign
R4784:Kctd3 UTSW 1 188974468 missense probably damaging 1.00
R5062:Kctd3 UTSW 1 188995693 intron probably benign
R5488:Kctd3 UTSW 1 188981366 missense probably damaging 1.00
R6013:Kctd3 UTSW 1 188996468 missense probably benign 0.00
R6310:Kctd3 UTSW 1 188972238 missense probably benign 0.00
R6478:Kctd3 UTSW 1 188972364 missense probably benign
R6703:Kctd3 UTSW 1 188996529 missense probably damaging 1.00
R7882:Kctd3 UTSW 1 188983046 missense possibly damaging 0.62
X0019:Kctd3 UTSW 1 188972589 missense probably damaging 1.00
Posted On2014-05-07