Incidental Mutation 'R9399:Kctd7'
ID 710989
Institutional Source Beutler Lab
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Name potassium channel tetramerisation domain containing 7
Synonyms 9430010P06Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9399 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130173702-130184647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130177033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 95 (Y95H)
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: Y95H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110
AA Change: Y95H

DomainStartEndE-ValueType
BTB 51 149 1.59e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144467
AA Change: Y88H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110
AA Change: Y88H

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: 99.7%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A C 14: 32,384,615 (GRCm39) L450R probably damaging Het
4933427I04Rik T A 4: 123,754,413 (GRCm39) L109* probably null Het
Amotl2 T C 9: 102,606,531 (GRCm39) L576P probably damaging Het
Ankrd11 T C 8: 123,618,179 (GRCm39) N1891S probably benign Het
Arap2 T A 5: 62,763,455 (GRCm39) H1563L possibly damaging Het
Astn2 T C 4: 65,664,588 (GRCm39) T732A possibly damaging Het
Atp2b2 A G 6: 113,780,713 (GRCm39) I312T probably benign Het
Bcl9 C T 3: 97,113,289 (GRCm39) M1055I probably benign Het
Carm1 A G 9: 21,486,791 (GRCm39) N180D possibly damaging Het
Cd180 A T 13: 102,842,021 (GRCm39) T356S probably benign Het
Cdh18 A C 15: 23,173,899 (GRCm39) T38P probably damaging Het
Cdk7 G T 13: 100,840,988 (GRCm39) P308Q probably damaging Het
Chd5 C T 4: 152,468,592 (GRCm39) A1715V probably benign Het
Clptm1 A T 7: 19,367,842 (GRCm39) V590D probably damaging Het
Col18a1 C T 10: 76,916,584 (GRCm39) G364R unknown Het
Ddhd1 C T 14: 45,895,117 (GRCm39) G118R possibly damaging Het
Fgfr4 C T 13: 55,304,293 (GRCm39) T111M probably damaging Het
Fndc8 A T 11: 82,788,739 (GRCm39) T190S probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,866 (GRCm39) probably benign Het
Glra3 T A 8: 56,542,079 (GRCm39) I274N probably damaging Het
Gpsm2 G A 3: 108,590,090 (GRCm39) R499* probably null Het
Gzme T A 14: 56,355,796 (GRCm39) D172V probably damaging Het
Ift88 T A 14: 57,717,385 (GRCm39) D536E probably benign Het
Itih3 T C 14: 30,643,335 (GRCm39) T151A probably benign Het
Lipe A T 7: 25,097,227 (GRCm39) C239S probably benign Het
Lpcat3 T C 6: 124,640,283 (GRCm39) S38P probably benign Het
Mical2 C T 7: 111,946,082 (GRCm39) R1015C probably damaging Het
Midn C T 10: 79,992,210 (GRCm39) R421* probably null Het
Mmp17 A T 5: 129,671,686 (GRCm39) K79* probably null Het
Or8b39 A G 9: 37,997,020 (GRCm39) H296R probably benign Het
Or8k16 G C 2: 85,520,395 (GRCm39) L207F probably damaging Het
Pla2r1 A G 2: 60,282,744 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,755,010 (GRCm39) V79A probably damaging Het
Prkd3 G T 17: 79,264,719 (GRCm39) P633H probably damaging Het
Prss40 T A 1: 34,591,794 (GRCm39) S294C probably damaging Het
Raph1 T A 1: 60,565,154 (GRCm39) Q111L probably benign Het
Rufy3 A T 5: 88,797,725 (GRCm39) N634I possibly damaging Het
Sel1l3 A C 5: 53,265,486 (GRCm39) V1102G probably benign Het
Sh2b1 AGCTCAGCC AGCTCAGCCCCGGGGACCCGCTCAGCC 7: 126,066,750 (GRCm39) probably benign Het
Sh2b1 GG GGCACCAGCTCAGCCCCGCG 7: 126,066,762 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGGACCAGCTCAGCCACG GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG 7: 126,066,744 (GRCm39) probably benign Het
Slc25a23 C A 17: 57,360,930 (GRCm39) G165C probably damaging Het
Spata31e1 T A 13: 49,940,175 (GRCm39) T512S possibly damaging Het
Sytl2 T A 7: 90,041,658 (GRCm39) D585E probably benign Het
Ttc14 A G 3: 33,858,856 (GRCm39) T372A possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r82 T A 10: 79,214,768 (GRCm39) Y250* probably null Het
Vmn2r92 T A 17: 18,389,137 (GRCm39) S484T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTGGAGGAGCCCAGATCTTG -3'
(R):5'- TTACCTGGGGTAAAACAACTTAAGC -3'

Sequencing Primer
(F):5'- AGATCTTGCTGCCTGTGCCAG -3'
(R):5'- TACTGTGGAATGCCCAAG -3'
Posted On 2022-04-18