Incidental Mutation 'R6889:Kctd7'
ID 537097
Institutional Source Beutler Lab
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Name potassium channel tetramerisation domain containing 7
Synonyms 9430010P06Rik
MMRRC Submission 044983-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6889 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130173702-130184647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130181342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 255 (Q255L)
Ref Sequence ENSEMBL: ENSMUSP00000044568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144878]
AlphaFold Q8BJK1
Predicted Effect probably benign
Transcript: ENSMUST00000040616
AA Change: Q255L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110
AA Change: Q255L

DomainStartEndE-ValueType
BTB 51 149 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144467
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110

DomainStartEndE-ValueType
BTB 44 142 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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 protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,290 (GRCm39) D103E probably benign Het
Abcc3 A T 11: 94,266,381 (GRCm39) S70T possibly damaging Het
Atp6v0a1 A G 11: 100,920,009 (GRCm39) Y214C possibly damaging Het
Azi2 A G 9: 117,878,963 (GRCm39) probably null Het
Cacnb2 T A 2: 14,990,826 (GRCm39) V636E possibly damaging Het
Cd8a A C 6: 71,351,546 (GRCm39) T169P probably damaging Het
Cfap44 G A 16: 44,224,495 (GRCm39) V68I probably benign Het
Cspg4b C A 13: 113,454,912 (GRCm39) S319R probably damaging Het
Dnaaf10 G A 11: 17,172,309 (GRCm39) V133M probably damaging Het
Eea1 G T 10: 95,873,340 (GRCm39) C1134F probably benign Het
Ehmt2 T G 17: 35,131,748 (GRCm39) F1192V probably damaging Het
Emc1 T C 4: 139,092,661 (GRCm39) F531L probably damaging Het
Eme1 G A 11: 94,541,303 (GRCm39) T173I probably benign Het
Gli2 A T 1: 118,772,146 (GRCm39) C520S probably damaging Het
Gm43302 T C 5: 105,428,004 (GRCm39) K186E probably benign Het
Gpr108 A T 17: 57,543,990 (GRCm39) N405K probably damaging Het
Hmgcl C A 4: 135,682,953 (GRCm39) T135N probably benign Het
Hydin G A 8: 111,259,488 (GRCm39) D2487N possibly damaging Het
Igfl3 G T 7: 17,913,725 (GRCm39) R25L probably benign Het
Igsf10 A C 3: 59,239,354 (GRCm39) S276A probably benign Het
Kctd1 A G 18: 15,107,045 (GRCm39) S211P probably damaging Het
Lrig1 A G 6: 94,602,044 (GRCm39) Y270H probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myh15 A G 16: 48,973,474 (GRCm39) N1248S possibly damaging Het
Nod1 A G 6: 54,921,094 (GRCm39) F408S probably benign Het
Nrp1 T C 8: 129,219,538 (GRCm39) F652S probably damaging Het
Opa1 G T 16: 29,439,686 (GRCm39) R792L probably benign Het
Or10ak14 G A 4: 118,611,504 (GRCm39) T79I probably damaging Het
Or51t4 A T 7: 102,597,975 (GRCm39) H91L possibly damaging Het
Or5p63 A T 7: 107,811,125 (GRCm39) F204I probably benign Het
Or6c74 T C 10: 129,870,401 (GRCm39) M302T probably benign Het
Pcdha6 G T 18: 37,101,396 (GRCm39) L196F probably damaging Het
Pdia2 A T 17: 26,415,944 (GRCm39) Y347* probably null Het
Pdpr G T 8: 111,851,245 (GRCm39) probably null Het
Pigt T A 2: 164,349,251 (GRCm39) L518Q probably damaging Het
Ppfibp2 A C 7: 107,337,188 (GRCm39) D591A possibly damaging Het
Prrg2 G A 7: 44,709,413 (GRCm39) T97M possibly damaging Het
Qars1 A G 9: 108,390,382 (GRCm39) T428A probably damaging Het
Rai1 T C 11: 60,076,541 (GRCm39) F202L probably damaging Het
Rars1 A T 11: 35,699,313 (GRCm39) M660K probably damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc16a6 A C 11: 109,345,866 (GRCm39) F382V probably damaging Het
Slc30a7 T C 3: 115,747,802 (GRCm39) T330A probably damaging Het
Smc1b A T 15: 84,951,960 (GRCm39) L1157Q probably damaging Het
Snx4 G T 16: 33,071,840 (GRCm39) A4S possibly damaging Het
Sv2b A C 7: 74,775,515 (GRCm39) probably null Het
Syt9 A T 7: 107,024,493 (GRCm39) I129L probably damaging Het
Ttbk2 T C 2: 120,603,834 (GRCm39) E198G probably damaging Het
Ubr3 A T 2: 69,774,644 (GRCm39) D488V possibly damaging Het
Ush2a T A 1: 188,530,068 (GRCm39) C3286S probably damaging Het
Vill A G 9: 118,894,950 (GRCm39) D56G possibly damaging Het
Vmn1r41 A T 6: 89,724,352 (GRCm39) I298F probably damaging Het
Vmn2r2 A T 3: 64,024,688 (GRCm39) V631D probably damaging Het
Vmn2r32 A G 7: 7,475,573 (GRCm39) S437P possibly damaging Het
Vmn2r53 A G 7: 12,335,069 (GRCm39) V197A probably benign Het
Wasf1 A T 10: 40,796,365 (GRCm39) I32F probably damaging Het
Wasf2 G T 4: 132,922,041 (GRCm39) A387S unknown Het
Zbtb14 G A 17: 69,694,674 (GRCm39) C124Y probably damaging Het
Zfp462 G T 4: 55,007,671 (GRCm39) A37S probably damaging Het
Zfp532 A G 18: 65,820,061 (GRCm39) E882G possibly damaging Het
Other mutations in Kctd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Kctd7 APN 5 130,176,976 (GRCm39) missense probably damaging 1.00
IGL02185:Kctd7 APN 5 130,181,299 (GRCm39) missense possibly damaging 0.73
R0027:Kctd7 UTSW 5 130,181,414 (GRCm39) missense probably damaging 0.99
R0932:Kctd7 UTSW 5 130,180,510 (GRCm39) critical splice acceptor site probably null
R1245:Kctd7 UTSW 5 130,177,058 (GRCm39) missense possibly damaging 0.93
R2136:Kctd7 UTSW 5 130,181,207 (GRCm39) missense probably damaging 0.99
R6009:Kctd7 UTSW 5 130,174,039 (GRCm39) missense probably damaging 0.99
R7411:Kctd7 UTSW 5 130,181,265 (GRCm39) missense probably benign 0.37
R9399:Kctd7 UTSW 5 130,177,033 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAAGAGATGCCCATCACC -3'
(R):5'- TCTCAACTCAGCGGCTTCTG -3'

Sequencing Primer
(F):5'- ACCCCCTATGAGTGTCCG -3'
(R):5'- CCTGTGGGGATCAGACTCC -3'
Posted On 2018-10-18