Incidental Mutation 'R7411:Kctd7'
ID 575067
Institutional Source Beutler Lab
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Name potassium channel tetramerisation domain containing 7
MMRRC Submission 045492-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 130144861-130155806 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130152424 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 209 (T209M)
Ref Sequence ENSEMBL: ENSMUSP00000121490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144878]
AlphaFold Q8BJK1
Predicted Effect silent
Transcript: ENSMUST00000040616
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110

BTB 51 149 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144467
AA Change: T209M

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110
AA Change: T209M

BTB 44 142 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,717,241 (GRCm38) T276I possibly damaging Het
9130011E15Rik A C 19: 45,965,435 (GRCm38) V170G probably benign Het
Abca17 A G 17: 24,328,569 (GRCm38) I277T possibly damaging Het
Abcb11 C T 2: 69,303,936 (GRCm38) probably null Het
Abcc12 C A 8: 86,560,850 (GRCm38) R122L possibly damaging Het
Abcc8 A G 7: 46,165,917 (GRCm38) probably null Het
Adam28 C T 14: 68,626,947 (GRCm38) R469K probably damaging Het
Adamts18 T C 8: 113,777,730 (GRCm38) Y243C probably damaging Het
Agbl3 T C 6: 34,814,819 (GRCm38) S619P probably damaging Het
Alpk3 A T 7: 81,092,852 (GRCm38) T806S probably benign Het
Atoh1 T A 6: 64,729,930 (GRCm38) I203N probably damaging Het
Cables1 A G 18: 11,840,515 (GRCm38) E237G probably benign Het
Cacna1d A G 14: 30,352,990 (GRCm38) M1T probably null Het
Ccdc91 C T 6: 147,592,198 (GRCm38) Q363* probably null Het
Ceacam5 T A 7: 17,750,753 (GRCm38) D473E probably damaging Het
Cfap54 T A 10: 92,868,755 (GRCm38) D2821V unknown Het
Clca3a2 A G 3: 144,802,099 (GRCm38) S737P probably damaging Het
Clec4n T A 6: 123,232,186 (GRCm38) M70K probably benign Het
Dstyk G A 1: 132,417,666 (GRCm38) G21S probably benign Het
Enpp5 A G 17: 44,081,475 (GRCm38) D265G probably damaging Het
Gabrb1 T C 5: 72,122,195 (GRCm38) probably null Het
Gm11639 T G 11: 104,999,723 (GRCm38) N4210K probably benign Het
Gm28710 A T 5: 16,824,765 (GRCm38) T500S possibly damaging Het
Gm5861 T A 5: 11,183,149 (GRCm38) probably null Het
Gm9513 T C 9: 36,475,684 (GRCm38) V16A possibly damaging Het
Guk1 A G 11: 59,185,985 (GRCm38) F91L Het
Ints1 C T 5: 139,764,260 (GRCm38) E961K possibly damaging Het
Irx2 T A 13: 72,629,063 (GRCm38) M1K probably null Het
Jrk C T 15: 74,707,199 (GRCm38) R79H possibly damaging Het
Kcnu1 G T 8: 25,892,088 (GRCm38) V489L probably damaging Het
Kdm5a T A 6: 120,426,815 (GRCm38) V1127E probably damaging Het
Klk6 A G 7: 43,826,943 (GRCm38) H69R probably damaging Het
Lck T C 4: 129,551,970 (GRCm38) K340R probably benign Het
Lrrc75a A G 11: 62,605,908 (GRCm38) L276P probably damaging Het
Med25 A G 7: 44,878,243 (GRCm38) W730R probably damaging Het
Muc4 T C 16: 32,751,322 (GRCm38) V400A probably benign Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Myt1 C A 2: 181,815,106 (GRCm38) H906Q probably damaging Het
Ncl A T 1: 86,350,842 (GRCm38) F673I probably damaging Het
Nfe2l1 G T 11: 96,822,183 (GRCm38) T216N probably benign Het
Nos2 G A 11: 78,944,855 (GRCm38) probably null Het
Nphp4 T A 4: 152,554,717 (GRCm38) I935N probably benign Het
Ntn1 G A 11: 68,386,089 (GRCm38) A11V probably benign Het
Olfr1257 T C 2: 89,881,261 (GRCm38) V145A probably damaging Het
Olfr1395 A T 11: 49,148,994 (GRCm38) M246L probably benign Het
Pcdha12 A G 18: 37,021,608 (GRCm38) Y460C probably damaging Het
Pcdha4 G T 18: 36,953,058 (GRCm38) R98L probably benign Het
Pitpnc1 A G 11: 107,212,572 (GRCm38) S234P probably damaging Het
Pmfbp1 A T 8: 109,513,871 (GRCm38) Y195F probably damaging Het
Prl6a1 T C 13: 27,318,142 (GRCm38) I164T probably damaging Het
Ptpn18 G A 1: 34,472,192 (GRCm38) probably null Het
Rhbdl2 G A 4: 123,829,642 (GRCm38) A280T possibly damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 (GRCm38) probably benign Het
Sema3a T G 5: 13,516,263 (GRCm38) Y171* probably null Het
Set A G 2: 30,066,885 (GRCm38) E22G probably benign Het
Sirpb1b A T 3: 15,542,997 (GRCm38) D229E probably benign Het
Slc12a2 A T 18: 57,941,013 (GRCm38) I1096F probably benign Het
Slc30a5 T C 13: 100,818,180 (GRCm38) I159V probably benign Het
Slc6a20b A G 9: 123,604,948 (GRCm38) I275T probably benign Het
Stradb A C 1: 58,988,518 (GRCm38) D69A possibly damaging Het
Supt16 A T 14: 52,178,051 (GRCm38) V409E probably damaging Het
Tcea2 A G 2: 181,686,664 (GRCm38) N195S probably damaging Het
Thumpd3 T C 6: 113,056,111 (GRCm38) V270A possibly damaging Het
Urgcp T A 11: 5,718,116 (GRCm38) H117L probably benign Het
Vps13c T A 9: 67,972,001 (GRCm38) M3408K probably damaging Het
Wdfy4 A C 14: 33,106,131 (GRCm38) M1078R Het
Wdr63 A G 3: 146,097,145 (GRCm38) V97A probably damaging Het
Ypel5 G A 17: 72,846,444 (GRCm38) probably null Het
Other mutations in Kctd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Kctd7 APN 5 130,148,135 (GRCm38) missense probably damaging 1.00
IGL02185:Kctd7 APN 5 130,152,458 (GRCm38) missense possibly damaging 0.73
R0027:Kctd7 UTSW 5 130,152,573 (GRCm38) missense probably damaging 0.99
R0932:Kctd7 UTSW 5 130,151,669 (GRCm38) critical splice acceptor site probably null
R1245:Kctd7 UTSW 5 130,148,217 (GRCm38) missense possibly damaging 0.93
R2136:Kctd7 UTSW 5 130,152,366 (GRCm38) missense probably damaging 0.99
R6009:Kctd7 UTSW 5 130,145,198 (GRCm38) missense probably damaging 0.99
R6889:Kctd7 UTSW 5 130,152,501 (GRCm38) missense probably benign 0.03
R9399:Kctd7 UTSW 5 130,148,192 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07