Incidental Mutation 'IGL02185:Kctd7'
ID283581
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd7
Ensembl Gene ENSMUSG00000034110
Gene Namepotassium channel tetramerisation domain containing 7
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.096) question?
Stock #IGL02185
Quality Score
Status
Chromosome5
Chromosomal Location130144861-130155806 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 130152458 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 241 (V241I)
Ref Sequence ENSEMBL: ENSMUSP00000044568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040616] [ENSMUST00000144467] [ENSMUST00000144878]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040616
AA Change: V241I

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044568
Gene: ENSMUSG00000034110
AA Change: V241I

DomainStartEndE-ValueType
BTB 51 149 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144467
AA Change: M220I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000121490
Gene: ENSMUSG00000034110
AA Change: M220I

DomainStartEndE-ValueType
BTB 44 142 1.59e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144878
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,197,046 W340R probably damaging Het
Adh5 A G 3: 138,451,054 D167G probably benign Het
Cand2 G A 6: 115,789,510 A359T probably benign Het
Cnnm2 T C 19: 46,762,995 V408A probably benign Het
Eloa A G 4: 136,012,979 probably benign Het
Ern2 T C 7: 122,173,375 probably benign Het
Hs6st3 A G 14: 119,868,884 probably null Het
Hydin A T 8: 110,506,476 I1736F possibly damaging Het
Ifrd2 A T 9: 107,591,091 I253F probably benign Het
Lcp1 T C 14: 75,229,300 F616L possibly damaging Het
Lyst C T 13: 13,661,093 Q1787* probably null Het
Mapkbp1 A T 2: 120,014,663 T342S possibly damaging Het
Mcph1 A G 8: 18,668,990 probably benign Het
Mctp2 T C 7: 72,080,823 H868R probably benign Het
Mefv T C 16: 3,715,850 T186A probably benign Het
Nol9 T A 4: 152,057,911 I666N probably damaging Het
Olfr145 A C 9: 37,898,235 Y277S probably damaging Het
Olfr574 T A 7: 102,948,514 N16K probably damaging Het
Olfr775 G T 10: 129,251,035 C167F possibly damaging Het
Pum2 T C 12: 8,748,955 probably null Het
Rpgrip1 A C 14: 52,112,228 K24N possibly damaging Het
Ryr3 T A 2: 112,967,203 T122S probably damaging Het
Sfn A G 4: 133,601,325 S149P probably benign Het
Slc27a2 T A 2: 126,567,816 V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 V81A probably benign Het
Trav21-dv12 A T 14: 53,876,498 D25V probably benign Het
Ttn T C 2: 76,768,534 H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 Y49N probably benign Het
Ulk2 C T 11: 61,782,060 A903T probably damaging Het
Vmn2r77 G A 7: 86,795,152 M4I unknown Het
Vmn2r85 G T 10: 130,418,692 L708I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vrk2 T A 11: 26,535,638 R117* probably null Het
Xpo6 A T 7: 126,113,808 probably benign Het
Zdhhc14 C A 17: 5,752,882 T420K probably benign Het
Zfp334 G T 2: 165,386,949 probably benign Het
Zfp958 T A 8: 4,628,990 C338* probably null Het
Other mutations in Kctd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Kctd7 APN 5 130148135 missense probably damaging 1.00
R0027:Kctd7 UTSW 5 130152573 missense probably damaging 0.99
R0932:Kctd7 UTSW 5 130151669 critical splice acceptor site probably null
R1245:Kctd7 UTSW 5 130148217 missense possibly damaging 0.93
R2136:Kctd7 UTSW 5 130152366 missense probably damaging 0.99
R6009:Kctd7 UTSW 5 130145198 missense probably damaging 0.99
R6889:Kctd7 UTSW 5 130152501 missense probably benign 0.03
Posted On2015-04-16