Incidental Mutation 'R0619:Kctd3'
ID58506
Institutional Source Beutler Lab
Gene Symbol Kctd3
Ensembl Gene ENSMUSG00000026608
Gene Namepotassium channel tetramerisation domain containing 3
SynonymsE330032J19Rik, NY-REN-45, 4930438A20Rik
MMRRC Submission 038808-MU
Accession Numbers

Genbank: NM_172650; MGI: 2444629

Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #R0619 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location188971095-189007841 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 188978643 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 441 (D441G)
Ref Sequence ENSEMBL: ENSMUSP00000082821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085678] [ENSMUST00000192458] [ENSMUST00000193143]
Predicted Effect probably damaging
Transcript: ENSMUST00000085678
AA Change: D441G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608
AA Change: D441G

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 noncoding transcript
Transcript: ENSMUST00000192200
Predicted Effect probably benign
Transcript: ENSMUST00000192458
Predicted Effect possibly damaging
Transcript: ENSMUST00000193143
AA Change: D441G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608
AA Change: D441G

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: ENSMUST00000193590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195488
Predicted Effect probably benign
Transcript: ENSMUST00000195658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195787
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 G A 8: 119,613,000 D74N probably benign Het
Adgre4 T A 17: 55,820,679 V573D possibly damaging Het
Ak7 A G 12: 105,733,511 K230E probably damaging Het
Amdhd2 T C 17: 24,156,588 D375G possibly damaging Het
Anpep T C 7: 79,841,009 E253G probably benign Het
Bbs7 A G 3: 36,607,576 L158S probably benign Het
BC037034 A G 5: 138,263,826 probably benign Het
Bdp1 T C 13: 100,037,858 T2057A probably benign Het
C2 G T 17: 34,872,503 H61Q probably damaging Het
Ccdc18 A G 5: 108,180,416 K661E probably benign Het
Cdh23 C T 10: 60,433,777 V655I probably damaging Het
Cep78 T C 19: 15,978,862 T238A probably damaging Het
Ces2a T A 8: 104,736,110 N110K probably benign Het
Crat T C 2: 30,409,984 D128G probably benign Het
Dclre1a A T 19: 56,545,409 M233K probably benign Het
Dsg4 T C 18: 20,461,359 V515A probably benign Het
Fer1l6 T C 15: 58,662,935 probably null Het
Fryl T C 5: 73,068,731 D1863G probably benign Het
Fsip2 T A 2: 82,944,140 L57Q probably damaging Het
Gnb4 C T 3: 32,591,207 V112I probably benign Het
Iqsec1 T C 6: 90,670,406 probably null Het
Kcnn3 A C 3: 89,652,030 T536P probably damaging Het
Kifc3 G A 8: 95,102,665 T528M probably benign Het
Kmt2c G A 5: 25,298,916 T3798I probably benign Het
Map1a T A 2: 121,305,255 M1946K probably damaging Het
Mfhas1 T A 8: 35,590,675 V768E probably benign Het
Mroh8 C A 2: 157,265,081 V223F possibly damaging Het
Mss51 A T 14: 20,487,573 V30E probably benign Het
Mtmr10 G A 7: 64,321,213 R392H probably benign Het
Mup3 T C 4: 62,085,961 N105S probably benign Het
Myh7b T C 2: 155,611,722 M22T probably benign Het
Olfr1034 T A 2: 86,047,311 Y276* probably null Het
Olfr170 T A 16: 19,606,272 Y132F probably damaging Het
Olfr97 T A 17: 37,232,155 I72F possibly damaging Het
Os9 A G 10: 127,120,991 I43T probably damaging Het
Pkhd1l1 T C 15: 44,483,838 L200P probably damaging Het
Ptpru C T 4: 131,820,887 V100M possibly damaging Het
Rnf6 G A 5: 146,210,721 R496C possibly damaging Het
Rsad1 C T 11: 94,542,639 R407Q probably damaging Het
Rspo3 T C 10: 29,504,637 D127G probably damaging Het
Sbf2 T A 7: 110,310,262 T1760S possibly damaging Het
Sh2d3c T A 2: 32,753,025 V588E probably damaging Het
Siglech A T 7: 55,769,162 T238S probably benign Het
Slc15a2 T A 16: 36,759,307 N328I probably damaging Het
Slc16a11 G T 11: 70,215,032 G94C probably damaging Het
Stub1 T C 17: 25,831,322 probably null Het
Tacc2 T A 7: 130,716,753 V40D probably damaging Het
Tagln3 C A 16: 45,724,272 R12L probably damaging Het
Tsen54 A G 11: 115,815,064 E69G probably damaging Het
Tsks A G 7: 44,950,834 E150G probably damaging Het
Ubap2l A C 3: 90,017,220 V680G probably benign Het
Usp16 A T 16: 87,472,164 H315L probably benign Het
Vav2 A G 2: 27,296,121 probably null Het
Zfc3h1 T C 10: 115,420,810 F1562L possibly damaging Het
Zfp764 C A 7: 127,406,541 V22L 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
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
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
R7965:Kctd3 UTSW 1 188983046 missense possibly damaging 0.62
X0019:Kctd3 UTSW 1 188972589 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCAGCTCTGGTCCTAGATTCCCAT -3'
(R):5'- acccCCTTCTCTCATGTTGGCTTA -3'

Sequencing Primer
(F):5'- TGGTCCTAGATTCCCATCTTTG -3'
(R):5'- gcacttggaggcagagac -3'
Posted On2013-07-11