Incidental Mutation 'R0027:Kctd7'
ID 44509
Institutional Source Beutler Lab
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Name potassium channel tetramerisation domain containing 7
Synonyms 9430010P06Rik
MMRRC Submission 038322-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0027 (G1) of strain 730
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 130173702-130184647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130181414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 279 (R279H)
Ref Sequence ENSEMBL: ENSMUSP00000044568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144878]
AlphaFold Q8BJK1
Predicted Effect probably damaging
Transcript: ENSMUST00000040616
AA Change: R279H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110
AA Change: R279H

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
Meta Mutation Damage Score 0.1094 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (65/66)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,285,959 (GRCm39) I723F probably damaging Het
Anapc1 G T 2: 128,483,431 (GRCm39) D1221E possibly damaging Het
Arhgef28 T A 13: 98,082,204 (GRCm39) E1201V possibly damaging Het
Capn12 T A 7: 28,581,385 (GRCm39) H79Q probably benign Het
Caprin1 A T 2: 103,605,925 (GRCm39) probably benign Het
Carmil3 T A 14: 55,731,860 (GRCm39) F196Y probably damaging Het
Casp8ap2 A G 4: 32,643,810 (GRCm39) H961R probably benign Het
Cdkl3 C T 11: 51,923,176 (GRCm39) probably benign Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Col13a1 A G 10: 61,685,940 (GRCm39) L684P unknown Het
D430041D05Rik A T 2: 104,085,389 (GRCm39) F1053L probably benign Het
Dab1 T C 4: 104,561,396 (GRCm39) probably benign Het
Dmxl1 A T 18: 50,090,362 (GRCm39) probably benign Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eml1 T C 12: 108,502,557 (GRCm39) C708R possibly damaging Het
Fam131b T A 6: 42,295,182 (GRCm39) M304L probably benign Het
Foxk1 A T 5: 142,436,095 (GRCm39) I321F probably damaging Het
Gm10306 C T 4: 94,445,027 (GRCm39) probably benign Het
Gm10985 TA TANA 3: 53,752,677 (GRCm39) probably null Het
Gse1 T C 8: 121,293,285 (GRCm39) probably benign Het
Hcn3 A G 3: 89,067,132 (GRCm39) S79P probably damaging Het
Hspa4 T A 11: 53,174,412 (GRCm39) M203L probably benign Het
Ints15 G A 5: 143,293,817 (GRCm39) T220I probably damaging Het
Kif11 C T 19: 37,395,431 (GRCm39) probably benign Het
Klf13 T C 7: 63,541,509 (GRCm39) N206S probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lamc1 T C 1: 153,138,329 (GRCm39) Y175C probably damaging Het
Lrpprc G A 17: 85,074,435 (GRCm39) R491* probably null Het
Madd T A 2: 90,982,894 (GRCm39) I1350F probably damaging Het
Mbtd1 T C 11: 93,815,375 (GRCm39) V321A possibly damaging Het
Mon2 G A 10: 122,871,953 (GRCm39) S357L possibly damaging Het
Ndst3 A G 3: 123,465,162 (GRCm39) V270A probably damaging Het
Nlrp2 T C 7: 5,325,447 (GRCm39) T742A probably damaging Het
Nopchap1 G A 10: 83,200,393 (GRCm39) probably benign Het
Or6d14 T C 6: 116,533,910 (GRCm39) S175P probably damaging Het
Papola A C 12: 105,799,395 (GRCm39) S675R probably benign Het
Pcdh9 T A 14: 94,126,081 (GRCm39) I30F probably null Het
Prl6a1 T A 13: 27,502,011 (GRCm39) L126Q probably damaging Het
Prr29 A G 11: 106,267,102 (GRCm39) E89G possibly damaging Het
Psmd1 T C 1: 86,021,987 (GRCm39) probably benign Het
Rad9b A G 5: 122,489,786 (GRCm39) probably benign Het
Rest T C 5: 77,430,398 (GRCm39) V939A probably benign Het
Rnf135 T A 11: 80,084,768 (GRCm39) S180R probably benign Het
Sarm1 C A 11: 78,378,917 (GRCm39) R376L probably damaging Het
Scap C A 9: 110,208,798 (GRCm39) P613Q probably benign Het
Scube3 C T 17: 28,383,331 (GRCm39) R374* probably null Het
Setx T G 2: 29,029,233 (GRCm39) V167G probably damaging Het
Snrnp40 T A 4: 130,262,066 (GRCm39) H151Q probably damaging Het
Sox21 G T 14: 118,473,029 (GRCm39) H7N probably benign Het
Stard9 A T 2: 120,533,982 (GRCm39) Q3413L probably benign Het
Sycp1 A G 3: 102,803,226 (GRCm39) V528A probably benign Het
Tcl1b3 A T 12: 105,157,498 (GRCm39) S47C probably damaging Het
Treml4 T C 17: 48,571,962 (GRCm39) S122P possibly damaging Het
Trip11 C T 12: 101,851,428 (GRCm39) A879T probably benign Het
Ubr4 C A 4: 139,127,704 (GRCm39) N567K probably damaging Het
Zan T C 5: 137,404,781 (GRCm39) probably benign Het
Zfp804a G A 2: 82,087,544 (GRCm39) D458N probably damaging Het
Zic2 T C 14: 122,713,755 (GRCm39) M223T 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
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
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'- TGGACAGCTCTTTGAGCACCAC -3'
(R):5'- CCAGCGACATCCTTGCTAGATCTTG -3'

Sequencing Primer
(F):5'- GCACCACTGTGAAGTGGAC -3'
(R):5'- TTCCAGTGAAGACTGCCAG -3'
Posted On 2013-06-11