Incidental Mutation 'R1245:Kctd7'
ID 152122
Institutional Source Beutler Lab
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Name potassium channel tetramerisation domain containing 7
Synonyms 9430010P06Rik
MMRRC Submission 039312-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1245 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 130173702-130184647 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130177058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 96 (H96R)
Ref Sequence ENSEMBL: ENSMUSP00000121490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144878]
AlphaFold Q8BJK1
Predicted Effect probably benign
Transcript: ENSMUST00000040616
AA Change: H103R

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110
AA Change: H103R

DomainStartEndE-ValueType
BTB 51 149 1.59e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000144467
AA Change: H96R

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110
AA Change: H96R

DomainStartEndE-ValueType
BTB 44 142 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Meta Mutation Damage Score 0.1586 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 98% (41/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,119,410 (GRCm39) probably benign Het
Ahnak A G 19: 8,981,533 (GRCm39) N939S probably benign Het
Cblb C A 16: 51,867,550 (GRCm39) probably benign Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Col6a6 G A 9: 105,626,109 (GRCm39) R1515C possibly damaging Het
Csf1r C A 18: 61,247,884 (GRCm39) D317E probably benign Het
Dlg2 T C 7: 92,091,803 (GRCm39) probably benign Het
Enpp3 G A 10: 24,660,851 (GRCm39) probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm5828 A T 1: 16,839,353 (GRCm39) noncoding transcript Het
Gpr137c T C 14: 45,516,522 (GRCm39) probably benign Het
Ibtk A G 9: 85,602,795 (GRCm39) probably null Het
Lmcd1 T A 6: 112,292,673 (GRCm39) V175E probably benign Het
Lrfn2 A T 17: 49,403,277 (GRCm39) probably null Het
Ltbp1 C T 17: 75,634,189 (GRCm39) probably benign Het
Myc A G 15: 61,859,746 (GRCm39) I140V probably damaging Het
Nckap1l A G 15: 103,364,352 (GRCm39) E100G probably damaging Het
Ncs1 A G 2: 31,174,705 (GRCm39) N143S probably benign Het
Nmnat2 A G 1: 152,987,949 (GRCm39) D238G probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Ppp2r3d G A 9: 101,071,593 (GRCm39) T675I probably damaging Het
Psma2 A G 13: 14,787,876 (GRCm39) Y6C probably damaging Het
Rspo4 G A 2: 151,709,846 (GRCm39) E84K probably damaging Het
Shank2 G A 7: 143,965,457 (GRCm39) V1015I probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Smg8 T C 11: 86,974,436 (GRCm39) D632G possibly damaging Het
Sppl2a A T 2: 126,755,441 (GRCm39) probably benign Het
Svep1 A G 4: 58,066,427 (GRCm39) probably null Het
Ttn T A 2: 76,776,044 (GRCm39) K1666M probably damaging Het
Ulk1 A G 5: 110,937,206 (GRCm39) probably null Het
Unc80 A G 1: 66,594,254 (GRCm39) D1211G possibly damaging Het
Vmn2r112 A G 17: 22,822,228 (GRCm39) Q302R probably benign Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Wnk1 C T 6: 119,925,418 (GRCm39) V1847I probably benign Het
Zfp653 A T 9: 21,967,718 (GRCm39) I529N probably damaging Het
Zfp948 T C 17: 21,807,104 (GRCm39) S99P probably damaging Het
Zfyve9 A G 4: 108,550,508 (GRCm39) probably benign Het
Zscan29 T C 2: 120,996,984 (GRCm39) T246A 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
R0932:Kctd7 UTSW 5 130,180,510 (GRCm39) critical splice acceptor site probably null
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'- CCTGAAGTCGTCCCCTTGAACATTG -3'
(R):5'- TCAAACTGCACTGGGTGGGAAG -3'

Sequencing Primer
(F):5'- AACATTGGAGGGGCTCACTTTAC -3'
(R):5'- cacctttagtcccagcactc -3'
Posted On 2014-01-29