Incidental Mutation 'IGL01393:Kctd3'
ID79312
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: 0.184) question?
Stock #IGL01393
Quality Score
Status
Chromosome1
Chromosomal Location188971095-189007841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 189000290 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 74 (I74V)
Ref Sequence ENSEMBL: ENSMUSP00000141861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085678] [ENSMUST00000193143]
Predicted Effect probably benign
Transcript: ENSMUST00000085678
AA Change: I74V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: I74V

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 benign
Transcript: ENSMUST00000193143
AA Change: I74V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: I74V

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G A 14: 36,096,422 V126I possibly damaging Het
A630073D07Rik G T 6: 132,626,614 Q60K unknown Het
Alpk2 A G 18: 65,307,708 S205P possibly damaging Het
Ang4 T A 14: 51,764,213 I93L probably benign Het
Arpin A G 7: 79,931,840 V44A possibly damaging Het
Atxn3 A T 12: 101,933,047 C263* probably null Het
C530008M17Rik T C 5: 76,858,971 S1060P unknown Het
Cd209f T C 8: 4,103,154 N260S probably damaging Het
Cdh20 A G 1: 104,934,244 R50G probably benign Het
Csmd3 C T 15: 48,457,599 V272I possibly damaging Het
Dst A T 1: 34,167,625 Y1136F possibly damaging Het
Fam20c A G 5: 138,807,271 Y420C probably damaging Het
Fancd2 T A 6: 113,577,360 probably benign Het
Fat2 T C 11: 55,269,309 D3326G probably benign Het
Filip1l A G 16: 57,572,223 N820S probably damaging Het
Gm26566 G A 4: 88,722,344 probably benign Het
Gm4792 A G 10: 94,298,442 L22P unknown Het
Gpat2 A G 2: 127,432,651 E386G probably damaging Het
Grm3 T C 5: 9,589,856 D63G probably benign Het
Hdc A G 2: 126,594,661 V430A probably benign Het
Hnf4a T C 2: 163,551,572 probably benign Het
Il2ra A G 2: 11,683,054 D215G probably damaging Het
Kctd5 A T 17: 24,059,318 probably null Het
Lrsam1 A T 2: 32,955,173 probably benign Het
Mblac1 A G 5: 138,194,774 N126S possibly damaging Het
Mmrn1 T A 6: 60,960,708 probably benign Het
Mpp3 A T 11: 102,025,478 L16Q probably damaging Het
Mrgprb1 C A 7: 48,448,006 A53S possibly damaging Het
Nbea C A 3: 56,005,308 M1019I probably benign Het
Nlrp5 A G 7: 23,404,174 K22R probably null Het
Olfr1298 A G 2: 111,645,256 V247A probably damaging Het
Olfr350 G A 2: 36,850,541 R165Q probably benign Het
Olfr700 C T 7: 106,806,435 G9E probably benign Het
Pard6b T A 2: 168,087,378 S35T probably benign Het
Peli1 T C 11: 21,147,400 V215A probably benign Het
Pkp4 A T 2: 59,347,925 D1003V probably damaging Het
Pot1a G A 6: 25,744,631 R625* probably null Het
Ppp1r16a T C 15: 76,694,544 S483P probably benign Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prrg3 T C X: 71,967,517 V210A probably benign Het
Rev1 A G 1: 38,092,063 V168A probably damaging Het
Sez6l G T 5: 112,438,395 probably benign Het
Spag17 A G 3: 100,027,610 T711A possibly damaging Het
Spice1 A G 16: 44,366,630 I163M probably benign Het
Tex13c1 C T X: 43,591,356 A66V probably damaging Het
Tmem132d A T 5: 127,784,638 S806R probably benign Het
Tnc A G 4: 64,014,054 probably benign Het
Tpbg T A 9: 85,844,092 V38E unknown Het
Unc13c T A 9: 73,540,270 I1883F probably benign Het
Vmn2r61 A C 7: 42,266,834 Q290H probably benign Het
Vps39 A G 2: 120,350,238 probably benign Het
Zfp369 T C 13: 65,294,474 V294A possibly damaging Het
Zfp821 T A 8: 109,709,478 probably benign Het
Zfp941 C T 7: 140,811,928 G506E probably damaging 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
IGL01874:Kctd3 APN 1 188996991 missense probably damaging 1.00
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
R8368:Kctd3 UTSW 1 188972207 missense probably benign 0.32
X0019:Kctd3 UTSW 1 188972589 missense probably damaging 1.00
Posted On2013-11-05