Incidental Mutation 'IGL01710:Kctd12b'
ID104760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd12b
Ensembl Gene ENSMUSG00000041633
Gene Namepotassium channel tetramerisation domain containing 12b
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01710
Quality Score
Status
ChromosomeX
Chromosomal Location153685154-153696391 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 153689483 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 70 (D70G)
Ref Sequence ENSEMBL: ENSMUSP00000108191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039424] [ENSMUST00000112572]
Predicted Effect probably damaging
Transcript: ENSMUST00000039424
AA Change: D70G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037539
Gene: ENSMUSG00000041633
AA Change: D70G

DomainStartEndE-ValueType
BTB 21 124 3.82e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112572
AA Change: D70G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108191
Gene: ENSMUSG00000041633
AA Change: D70G

DomainStartEndE-ValueType
BTB 21 124 3.82e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ell3 T C 2: 121,441,512 H128R probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Kctd12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02244:Kctd12b APN X 153689334 missense probably benign
Posted On2014-01-21