Incidental Mutation 'IGL02244:Kctd12b'
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ID286100
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 #IGL02244
Quality Score
Status
ChromosomeX
Chromosomal Location153685154-153696391 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 153689334 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 120 (M120L)
Ref Sequence ENSEMBL: ENSMUSP00000108191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039424] [ENSMUST00000112572]
Predicted Effect probably benign
Transcript: ENSMUST00000039424
AA Change: M120L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037539
Gene: ENSMUSG00000041633
AA Change: M120L

DomainStartEndE-ValueType
BTB 21 124 3.82e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112572
AA Change: M120L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108191
Gene: ENSMUSG00000041633
AA Change: M120L

DomainStartEndE-ValueType
BTB 21 124 3.82e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Kctd12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Kctd12b APN X 153689483 missense probably damaging 1.00
Posted On2015-04-16