Incidental Mutation 'R0932:Kctd7'
ID 80964
Institutional Source Beutler Lab
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Name potassium channel tetramerisation domain containing 7
Synonyms 9430010P06Rik
MMRRC Submission 039076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0932 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 130173702-130184647 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 130180510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000040616] [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144467] [ENSMUST00000144467] [ENSMUST00000144878] [ENSMUST00000144878] [ENSMUST00000144878]
AlphaFold Q8BJK1
Predicted Effect probably null
Transcript: ENSMUST00000040616
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110

DomainStartEndE-ValueType
BTB 51 149 1.59e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000040616
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110

DomainStartEndE-ValueType
BTB 51 149 1.59e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000040616
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110

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

DomainStartEndE-ValueType
BTB 44 142 1.59e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144467
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110

DomainStartEndE-ValueType
BTB 44 142 1.59e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000144467
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110

DomainStartEndE-ValueType
BTB 44 142 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.2%
  • 20x: 97.1%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,995 (GRCm39) N47S probably benign Het
AA986860 T C 1: 130,665,430 (GRCm39) probably null Het
Akap9 T A 5: 4,096,492 (GRCm39) C2456S possibly damaging Het
Anks3 C T 16: 4,771,691 (GRCm39) R111H probably damaging Het
Atp1a3 A T 7: 24,687,401 (GRCm39) probably null Het
Bahd1 T C 2: 118,746,408 (GRCm39) L9P probably damaging Het
Capn12 T C 7: 28,587,123 (GRCm39) V364A possibly damaging Het
Cds1 T A 5: 101,944,891 (GRCm39) C122S probably damaging Het
Cenpc1 T C 5: 86,185,459 (GRCm39) T351A possibly damaging Het
Cuzd1 T C 7: 130,921,923 (GRCm39) probably benign Het
Daxx T C 17: 34,129,635 (GRCm39) L72P probably damaging Het
Depdc1b A G 13: 108,523,369 (GRCm39) I415V probably benign Het
Dlg2 T C 7: 92,024,845 (GRCm39) V675A probably damaging Het
Dtx4 A G 19: 12,469,515 (GRCm39) V204A probably benign Het
Ganc T C 2: 120,288,610 (GRCm39) V872A probably damaging Het
Gm14403 A T 2: 177,198,810 (GRCm39) R38W probably benign Het
Gm4553 T C 7: 141,719,423 (GRCm39) S2G unknown Het
Gm8159 G A 14: 4,635,226 (GRCm38) R148H possibly damaging Het
Gsdmc3 T C 15: 63,730,400 (GRCm39) probably null Het
Ibtk C T 9: 85,617,099 (GRCm39) G158R probably damaging Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kdr T C 5: 76,129,465 (GRCm39) T141A probably benign Het
Krt25 T A 11: 99,212,109 (GRCm39) Q176L possibly damaging Het
Krt71 T C 15: 101,645,195 (GRCm39) N372S probably benign Het
Mllt3 A G 4: 87,707,621 (GRCm39) V446A probably damaging Het
Or1j21 T A 2: 36,683,903 (GRCm39) Y218* probably null Het
Or4k38 A T 2: 111,165,543 (GRCm39) D293E probably benign Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Or5p52 A C 7: 107,502,397 (GRCm39) T158P possibly damaging Het
Or9e1 T C 11: 58,732,540 (GRCm39) V200A possibly damaging Het
Poldip2 T C 11: 78,403,294 (GRCm39) S18P possibly damaging Het
Ptprd T G 4: 76,055,122 (GRCm39) Q193P probably damaging Het
Reck C T 4: 43,922,838 (GRCm39) T371M possibly damaging Het
Rnf144b G T 13: 47,374,001 (GRCm39) R66L probably null Het
Rpn2 T A 2: 157,125,691 (GRCm39) D67E possibly damaging Het
Scn11a A G 9: 119,636,876 (GRCm39) F275S probably damaging Het
Slc12a5 G A 2: 164,838,805 (GRCm39) probably benign Het
Snapc4 A G 2: 26,264,658 (GRCm39) I253T probably damaging Het
Tppp2 C T 14: 52,157,881 (GRCm39) probably benign Het
Usp9y A C Y: 1,315,930 (GRCm39) N2068K probably benign Het
Vmn2r45 A G 7: 8,478,380 (GRCm39) C536R probably 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
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
R6889:Kctd7 UTSW 5 130,181,342 (GRCm39) missense probably benign 0.03
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'- AACACTGATAGACACAAAGGTCCAGTTC -3'
(R):5'- GCAAGGAAGTCCCCACAGGATG -3'

Sequencing Primer
(F):5'- CACAAAGGTCCAGTTCATTTGGC -3'
(R):5'- GTTTCACCCACTTCTGAGAAAGG -3'
Posted On 2013-11-07