Incidental Mutation 'IGL02480:Aadac'
ID295155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadac
Ensembl Gene ENSMUSG00000027761
Gene Namearylacetamide deacetylase
SynonymsAada, 5033417E09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02480
Quality Score
Status
Chromosome3
Chromosomal Location60025717-60040160 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 60039487 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 202 (I202K)
Ref Sequence ENSEMBL: ENSMUSP00000029325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029325]
Predicted Effect probably benign
Transcript: ENSMUST00000029325
AA Change: I202K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000029325
Gene: ENSMUSG00000027761
AA Change: I202K

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Abhydrolase_3 106 277 3.8e-41 PFAM
Pfam:Abhydrolase_3 279 376 1.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194896
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,404,005 S169T possibly damaging Het
Acsm1 A T 7: 119,656,042 I389F possibly damaging Het
Actn2 T A 13: 12,276,478 Q680L probably benign Het
Ankrd13d G A 19: 4,271,463 P404S possibly damaging Het
Ankrd46 G T 15: 36,483,996 probably benign Het
Arfip1 A G 3: 84,547,932 probably null Het
Asb15 A T 6: 24,570,746 L574F probably damaging Het
Cym T C 3: 107,213,522 I256V probably benign Het
Cyp3a44 C T 5: 145,794,905 E144K possibly damaging Het
Efna1 T C 3: 89,272,595 E109G probably benign Het
Eml1 C A 12: 108,521,696 Q556K probably benign Het
Eml5 T G 12: 98,876,243 T199P probably damaging Het
Etl4 A C 2: 20,788,524 M687L probably damaging Het
Fam199x C A X: 137,050,039 T56K probably damaging Het
Fat4 A G 3: 39,010,430 D4845G probably damaging Het
Gm4987 T A X: 46,456,096 noncoding transcript Het
Gm5828 C A 1: 16,769,542 noncoding transcript Het
Gm5930 T C 14: 44,337,630 Y68C probably benign Het
Gm8994 A T 6: 136,329,215 I225F probably damaging Het
Gucy1a1 C T 3: 82,097,733 V582M probably damaging Het
Haghl G T 17: 25,783,059 A220E probably damaging Het
Hsf5 G A 11: 87,631,657 A359T possibly damaging Het
Igsf9 C A 1: 172,496,913 D799E possibly damaging Het
Igsf9 A T 1: 172,484,778 probably benign Het
Itga1 A T 13: 114,987,648 F703I probably damaging Het
Kcna6 G A 6: 126,738,568 P453S probably damaging Het
Lzic A T 4: 149,486,803 N15I probably damaging Het
Olfr1278 A G 2: 111,292,513 I82V possibly damaging Het
Olfr136 A G 17: 38,335,423 R89G probably benign Het
Olfr338 T G 2: 36,377,492 C239G probably damaging Het
Olfr506 C T 7: 108,612,811 T168I probably benign Het
P4ha1 T C 10: 59,343,752 Y141H probably damaging Het
Paxx G A 2: 25,460,012 P164S probably damaging Het
Pgd A G 4: 149,156,618 V278A probably damaging Het
Pik3c2g A G 6: 139,852,800 Y352C probably damaging Het
Pkd2l2 A G 18: 34,438,790 N614S possibly damaging Het
Poli T C 18: 70,525,406 T86A probably benign Het
Psd2 G A 18: 36,006,083 R528H probably damaging Het
Ptchd4 G T 17: 42,502,540 C444F probably benign Het
Ptpra C A 2: 130,504,261 T114K probably benign Het
Rho A G 6: 115,935,544 N123S probably benign Het
Sdccag3 T A 2: 26,385,120 H342L probably damaging Het
Setd5 A G 6: 113,143,809 D993G probably damaging Het
Slc1a2 T C 2: 102,736,066 L38P probably damaging Het
Slc2a7 G A 4: 150,160,112 V346M possibly damaging Het
Slc43a1 A G 2: 84,839,584 I7V probably benign Het
Spag9 C T 11: 94,108,587 Q691* probably null Het
Timmdc1 A T 16: 38,522,401 V45D probably null Het
Tlr8 T A X: 167,244,183 H557L probably damaging Het
Other mutations in Aadac
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Aadac APN 3 60037342 splice site probably benign
IGL01518:Aadac APN 3 60035899 missense probably damaging 1.00
IGL03164:Aadac APN 3 60039649 missense probably damaging 1.00
IGL03309:Aadac APN 3 60039882 missense possibly damaging 0.65
R0383:Aadac UTSW 3 60035947 missense possibly damaging 0.80
R0918:Aadac UTSW 3 60039532 missense probably damaging 1.00
R1381:Aadac UTSW 3 60039930 missense probably damaging 1.00
R1848:Aadac UTSW 3 60039697 missense probably damaging 1.00
R1964:Aadac UTSW 3 60037338 critical splice donor site probably null
R2103:Aadac UTSW 3 60039814 missense probably damaging 1.00
R2125:Aadac UTSW 3 60039645 missense possibly damaging 0.67
R2126:Aadac UTSW 3 60039645 missense possibly damaging 0.67
R2265:Aadac UTSW 3 60037316 missense probably damaging 1.00
R2266:Aadac UTSW 3 60037316 missense probably damaging 1.00
R2267:Aadac UTSW 3 60037316 missense probably damaging 1.00
R4200:Aadac UTSW 3 60039534 missense probably damaging 1.00
R4229:Aadac UTSW 3 60031813 missense possibly damaging 0.89
R4361:Aadac UTSW 3 60039761 missense probably benign
R4750:Aadac UTSW 3 60035817 missense probably benign
R5367:Aadac UTSW 3 60039636 missense probably damaging 1.00
R5383:Aadac UTSW 3 60036075 intron probably benign
R5536:Aadac UTSW 3 60039563 missense probably benign 0.12
R5907:Aadac UTSW 3 60039827 missense probably damaging 1.00
R6641:Aadac UTSW 3 60039732 missense probably damaging 1.00
R6805:Aadac UTSW 3 60037336 missense probably benign 0.30
R6979:Aadac UTSW 3 60040003 missense probably benign 0.01
R7224:Aadac UTSW 3 60035854 missense probably benign 0.13
R7606:Aadac UTSW 3 60036035 critical splice donor site probably null
R7745:Aadac UTSW 3 60038472 missense probably damaging 1.00
Posted On2015-04-16