Incidental Mutation 'IGL01710:Kctd12b'
ID 104760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kctd12b
Ensembl Gene ENSMUSG00000041633
Gene Name potassium channel tetramerisation domain containing 12b
Synonyms 9530071H11Rik, B430319H24Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01710
Quality Score
Status
Chromosome X
Chromosomal Location 152468150-152479382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152472479 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C7J6
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: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ell3 T C 2: 121,271,993 (GRCm39) H128R probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Klk1b21 T A 7: 43,755,919 (GRCm39) F249L probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Pi4k2a T A 19: 42,093,418 (GRCm39) L253Q probably damaging Het
Prdx6b T A 2: 80,123,490 (GRCm39) F100I probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Uba1 C T X: 20,537,604 (GRCm39) T274I possibly damaging Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Kctd12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02244:Kctd12b APN X 152,472,330 (GRCm39) missense probably benign
Posted On 2014-01-21