Incidental Mutation 'R4091:Kctd3'
ID 317590
Institutional Source Beutler Lab
Gene Symbol Kctd3
Ensembl Gene ENSMUSG00000026608
Gene Name potassium channel tetramerisation domain containing 3
Synonyms 4930438A20Rik, E330032J19Rik, NY-REN-45
MMRRC Submission 041626-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R4091 (G1)
Quality Score 203
Status Validated
Chromosome 1
Chromosomal Location 188703292-188740038 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 188727917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085678] [ENSMUST00000193143]
AlphaFold Q8BFX3
Predicted Effect probably benign
Transcript: ENSMUST00000085678
SMART Domains Protein: ENSMUSP00000082821
Gene: ENSMUSG00000026608

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
SMART Domains Protein: ENSMUSP00000141861
Gene: ENSMUSG00000026608

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (61/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,575,722 (GRCm39) S674P possibly damaging Het
Abca3 C T 17: 24,616,456 (GRCm39) T966M probably damaging Het
Adam2 A T 14: 66,267,172 (GRCm39) Y696N probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Arhgap25 G T 6: 87,440,017 (GRCm39) S543R probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bltp1 G A 3: 37,084,738 (GRCm39) A3897T probably benign Het
Carns1 C T 19: 4,221,682 (GRCm39) R191Q probably damaging Het
Casp8ap2 C A 4: 32,643,611 (GRCm39) P895T probably damaging Het
Col12a1 T A 9: 79,609,646 (GRCm39) I287F probably damaging Het
Cystm1 A G 18: 36,499,600 (GRCm39) N5S unknown Het
Dnah8 T C 17: 30,988,813 (GRCm39) V3261A probably damaging Het
Dnajc11 A G 4: 152,062,550 (GRCm39) probably benign Het
Dock4 T C 12: 40,894,266 (GRCm39) S1847P probably damaging Het
Dync2h1 A G 9: 7,131,881 (GRCm39) V1642A probably benign Het
Eftud2 T C 11: 102,730,242 (GRCm39) probably null Het
Fam221b A G 4: 43,665,987 (GRCm39) I208T probably benign Het
Gpr141b T A 13: 19,913,635 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,089,301 (GRCm39) I255V probably benign Het
Grm7 G A 6: 110,891,301 (GRCm39) S178N probably damaging Het
Hspa12b T A 2: 130,975,408 (GRCm39) probably null Het
Kynu G A 2: 43,569,884 (GRCm39) V389M possibly damaging Het
Lcat A G 8: 106,666,538 (GRCm39) L328P probably benign Het
Lrrn2 C T 1: 132,865,390 (GRCm39) Q152* probably null Het
Maml1 G A 11: 50,182,656 (GRCm39) P78L probably benign Het
Mef2b G A 8: 70,617,752 (GRCm39) V37M probably damaging Het
Mindy2 A T 9: 70,541,342 (GRCm39) M281K probably damaging Het
Mon2 C T 10: 122,874,415 (GRCm39) R311H probably damaging Het
Mtr A T 13: 12,245,943 (GRCm39) V394E probably damaging Het
Myh14 T A 7: 44,282,415 (GRCm39) T745S possibly damaging Het
Nme9 T A 9: 99,346,580 (GRCm39) D131E possibly damaging Het
Nphp4 C A 4: 152,631,475 (GRCm39) Q792K probably damaging Het
Nrxn2 T A 19: 6,523,444 (GRCm39) C479S probably damaging Het
Nsmf T C 2: 24,950,871 (GRCm39) I406T probably damaging Het
Or10a49 G A 7: 108,467,650 (GRCm39) A237V probably damaging Het
Or5an9 A T 19: 12,187,143 (GRCm39) D71V probably damaging Het
Or8g28 T A 9: 39,169,330 (GRCm39) I213F possibly damaging Het
Pbrm1 A G 14: 30,757,960 (GRCm39) T197A probably benign Het
Pla2r1 T A 2: 60,262,937 (GRCm39) N1034I probably damaging Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp1 A T 3: 79,552,068 (GRCm39) D744E probably benign Het
Samd9l T C 6: 3,376,887 (GRCm39) N125D probably benign Het
Serpina3a G A 12: 104,082,625 (GRCm39) V133I probably benign Het
Slc22a30 C T 19: 8,381,909 (GRCm39) V121M probably damaging Het
Smarcc1 T A 9: 109,993,897 (GRCm39) D247E possibly damaging Het
Smg9 T A 7: 24,120,292 (GRCm39) L422Q probably null Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tle5 G A 10: 81,401,418 (GRCm39) G162D probably damaging Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Utrn T A 10: 12,585,915 (GRCm39) D954V probably benign Het
Vmn1r227 T A 17: 20,955,778 (GRCm39) noncoding transcript Het
Vmn2r11 A C 5: 109,202,616 (GRCm39) probably null Het
Vmn2r84 A T 10: 130,227,238 (GRCm39) M200K probably damaging Het
Vmn2r88 T A 14: 51,652,883 (GRCm39) Y469N probably damaging Het
Wdcp A G 12: 4,905,279 (GRCm39) N600S probably null Het
Wdfy4 T G 14: 32,847,837 (GRCm39) R838S possibly damaging Het
Other mutations in Kctd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00757:Kctd3 APN 1 188,704,393 (GRCm39) missense probably damaging 1.00
IGL00766:Kctd3 APN 1 188,727,973 (GRCm39) missense probably benign 0.29
IGL01393:Kctd3 APN 1 188,732,487 (GRCm39) missense probably benign 0.03
IGL01874:Kctd3 APN 1 188,729,188 (GRCm39) missense probably damaging 1.00
IGL01966:Kctd3 APN 1 188,724,859 (GRCm39) missense probably damaging 1.00
3-1:Kctd3 UTSW 1 188,704,454 (GRCm39) nonsense probably null
R0026:Kctd3 UTSW 1 188,708,818 (GRCm39) missense probably damaging 1.00
R0142:Kctd3 UTSW 1 188,728,595 (GRCm39) critical splice donor site probably null
R0619:Kctd3 UTSW 1 188,710,840 (GRCm39) missense probably damaging 1.00
R0621:Kctd3 UTSW 1 188,713,538 (GRCm39) missense probably damaging 1.00
R0733:Kctd3 UTSW 1 188,729,247 (GRCm39) splice site probably benign
R0843:Kctd3 UTSW 1 188,729,170 (GRCm39) nonsense probably null
R2393:Kctd3 UTSW 1 188,713,568 (GRCm39) missense probably damaging 1.00
R4004:Kctd3 UTSW 1 188,724,940 (GRCm39) missense probably benign 0.06
R4005:Kctd3 UTSW 1 188,734,124 (GRCm39) missense possibly damaging 0.96
R4784:Kctd3 UTSW 1 188,706,665 (GRCm39) missense probably damaging 1.00
R5062:Kctd3 UTSW 1 188,727,890 (GRCm39) intron probably benign
R5488:Kctd3 UTSW 1 188,713,563 (GRCm39) missense probably damaging 1.00
R6013:Kctd3 UTSW 1 188,728,665 (GRCm39) missense probably benign 0.00
R6310:Kctd3 UTSW 1 188,704,435 (GRCm39) missense probably benign 0.00
R6478:Kctd3 UTSW 1 188,704,561 (GRCm39) missense probably benign
R6703:Kctd3 UTSW 1 188,728,726 (GRCm39) missense probably damaging 1.00
R7882:Kctd3 UTSW 1 188,715,243 (GRCm39) missense possibly damaging 0.62
R8368:Kctd3 UTSW 1 188,704,404 (GRCm39) missense probably benign 0.32
R9189:Kctd3 UTSW 1 188,704,636 (GRCm39) missense possibly damaging 0.65
R9352:Kctd3 UTSW 1 188,704,777 (GRCm39) missense probably damaging 0.97
R9759:Kctd3 UTSW 1 188,710,786 (GRCm39) missense probably damaging 1.00
X0019:Kctd3 UTSW 1 188,704,786 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGTGACATAGCTCAGTTGC -3'
(R):5'- TAGAAGCATCAACCGGCCTC -3'

Sequencing Primer
(F):5'- GAGTGACATAGCTCAGTTGCATCAC -3'
(R):5'- TCTGAGCCAGAGACTTCCAACTC -3'
Posted On 2015-05-15