Incidental Mutation 'IGL02629:Aadacl3'
ID301215
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadacl3
Ensembl Gene ENSMUSG00000078507
Gene Namearylacetamide deacetylase like 3
SynonymsLOC230883
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02629
Quality Score
Status
Chromosome4
Chromosomal Location144453771-144463756 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 144463629 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 34 (I34T)
Ref Sequence ENSEMBL: ENSMUSP00000101375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105749]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105749
AA Change: I34T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101375
Gene: ENSMUSG00000078507
AA Change: I34T

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Abhydrolase_3 116 263 1.8e-33 PFAM
Pfam:Abhydrolase_3 302 382 6.9e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,609,144 probably benign Het
Acan T A 7: 79,111,979 I1979N possibly damaging Het
Ankrd27 A G 7: 35,625,696 D701G probably benign Het
Arhgap31 C T 16: 38,609,164 G450S probably benign Het
Braf T C 6: 39,688,299 E45G possibly damaging Het
Btnl6 C T 17: 34,514,468 V178M probably damaging Het
Capg A T 6: 72,555,754 Q67L probably benign Het
Carmil3 A G 14: 55,499,068 N663S probably damaging Het
Casz1 T A 4: 148,944,391 S1098T probably benign Het
Cd55b A T 1: 130,419,798 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpf A G 1: 189,652,334 L2583P probably damaging Het
Clec4a1 A C 6: 122,932,147 probably null Het
Corin T C 5: 72,332,673 N653S probably damaging Het
Dhx36 T C 3: 62,506,734 E69G probably benign Het
Dpy19l1 C A 9: 24,438,713 probably benign Het
Fam184a T C 10: 53,698,811 N234S possibly damaging Het
Foxg1 A G 12: 49,385,548 S355G probably benign Het
Fsd1l T C 4: 53,686,417 S277P probably damaging Het
Hadh T A 3: 131,235,635 D245V probably damaging Het
Jag2 G A 12: 112,914,514 probably benign Het
Klhl18 A T 9: 110,429,938 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Mcoln2 A G 3: 146,170,044 Y89C probably benign Het
Mug1 A T 6: 121,840,065 Y31F possibly damaging Het
Ndufb5 A G 3: 32,737,199 T32A probably benign Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Nudt6 A G 3: 37,405,171 Y222H probably benign Het
Olfr1269 A T 2: 90,118,857 L247* probably null Het
Pla2g4c A T 7: 13,335,377 R159* probably null Het
Pnpla7 A G 2: 25,050,945 D1103G probably damaging Het
Pof1b T G X: 112,645,237 probably benign Het
Prrg2 C T 7: 45,056,742 probably null Het
Rab3gap1 A G 1: 127,909,863 T221A probably benign Het
Rfx7 A G 9: 72,619,259 N1244D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf123 A T 9: 108,070,789 probably benign Het
Rnf44 T G 13: 54,683,062 Q207P possibly damaging Het
Serpina3g A G 12: 104,241,178 D200G probably damaging Het
Slc5a4a T A 10: 76,147,579 S17T unknown Het
Smc4 G T 3: 69,025,873 C609F probably damaging Het
Sync T C 4: 129,293,951 F259L probably damaging Het
Tas2r113 T C 6: 132,893,336 L109P probably damaging Het
Tjp2 C A 19: 24,122,379 probably benign Het
Tmem30a C A 9: 79,776,249 probably benign Het
Unc80 T C 1: 66,483,317 V226A possibly damaging Het
Upk2 A T 9: 44,454,139 L44Q probably damaging Het
Usp42 T C 5: 143,723,154 Y203C possibly damaging Het
Vmn1r28 A T 6: 58,265,816 I215F probably benign Het
Zswim2 A G 2: 83,925,209 V116A possibly damaging Het
Other mutations in Aadacl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Aadacl3 APN 4 144463656 missense probably benign 0.18
IGL02590:Aadacl3 APN 4 144457834 missense probably damaging 1.00
IGL03308:Aadacl3 APN 4 144456251 missense probably damaging 0.99
R0521:Aadacl3 UTSW 4 144455894 missense probably damaging 1.00
R0570:Aadacl3 UTSW 4 144463560 nonsense probably null
R1203:Aadacl3 UTSW 4 144463570 missense probably benign 0.00
R1701:Aadacl3 UTSW 4 144463572 missense probably damaging 1.00
R2033:Aadacl3 UTSW 4 144456383 missense probably benign 0.00
R2077:Aadacl3 UTSW 4 144457034 unclassified probably benign
R2226:Aadacl3 UTSW 4 144463725 missense possibly damaging 0.46
R2328:Aadacl3 UTSW 4 144455932 missense probably benign 0.00
R4801:Aadacl3 UTSW 4 144456232 missense probably damaging 1.00
R4802:Aadacl3 UTSW 4 144456232 missense probably damaging 1.00
R4820:Aadacl3 UTSW 4 144457957 missense probably damaging 0.99
R4959:Aadacl3 UTSW 4 144457086 missense probably benign 0.37
R5076:Aadacl3 UTSW 4 144456070 missense possibly damaging 0.56
R5766:Aadacl3 UTSW 4 144455869 missense probably damaging 1.00
R6643:Aadacl3 UTSW 4 144457074 missense probably damaging 1.00
R6973:Aadacl3 UTSW 4 144456190 missense probably benign 0.05
Posted On2015-04-16