Incidental Mutation 'R6805:Aadac'
ID 533518
Institutional Source Beutler Lab
Gene Symbol Aadac
Ensembl Gene ENSMUSG00000027761
Gene Name arylacetamide deacetylase
Synonyms Aada, 5033417E09Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6805 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 60025717-60040160 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 60037336 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 143 (D143A)
Ref Sequence ENSEMBL: ENSMUSP00000029325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029325]
AlphaFold Q99PG0
Predicted Effect probably benign
Transcript: ENSMUST00000029325
AA Change: D143A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029325
Gene: ENSMUSG00000027761
AA Change: D143A

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 97.1%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,244,306 V2591A probably benign Het
4930407I10Rik A G 15: 82,062,543 T214A possibly damaging Het
A930009A15Rik G T 10: 115,579,905 probably benign Het
Acot10 T G 15: 20,665,366 T430P probably benign Het
Adgrb3 T C 1: 25,826,172 T197A possibly damaging Het
B230118H07Rik T C 2: 101,566,459 K192E probably benign Het
Bbs1 A G 19: 4,900,615 I200T probably damaging Het
C1ra G A 6: 124,517,725 E316K probably benign Het
Cadps G A 14: 12,467,103 A943V probably damaging Het
Cc2d2a A G 5: 43,681,331 E48G probably damaging Het
Clca1 A T 3: 145,018,667 C211S probably damaging Het
Col18a1 A G 10: 77,054,239 L1429P probably damaging Het
Cul2 T G 18: 3,421,263 Y196D probably damaging Het
D630023F18Rik T C 1: 65,117,206 S43G probably benign Het
Ddx39 G A 8: 83,723,137 R427Q probably damaging Het
Def6 A G 17: 28,223,717 T285A probably damaging Het
Defb21 T A 2: 152,574,869 D88E probably benign Het
Defb6 A G 8: 19,228,101 K63R probably benign Het
Dnph1 T C 17: 46,498,744 S112P probably damaging Het
Dock10 T A 1: 80,586,690 I467L probably benign Het
Dspp C A 5: 104,175,850 H286Q probably benign Het
Eya1 T A 1: 14,183,277 T459S probably benign Het
Faf1 T C 4: 109,861,852 L385P probably damaging Het
Fbxw21 C A 9: 109,157,565 R82L probably damaging Het
Fryl A G 5: 73,065,094 V2048A probably benign Het
Galnt5 A T 2: 58,035,299 D864V possibly damaging Het
Gata6 T G 18: 11,054,460 S130A possibly damaging Het
Gbf1 G T 19: 46,262,507 R434L probably damaging Het
Gga3 A G 11: 115,585,762 F709L probably damaging Het
Hcar1 A G 5: 123,879,130 V166A probably benign Het
Hexa T A 9: 59,563,937 N491K possibly damaging Het
Hpse2 A T 19: 43,294,321 C164* probably null Het
Ifi202b T C 1: 173,974,989 Y93C probably damaging Het
Iscu T A 5: 113,775,243 I79N probably damaging Het
Jmjd7 T A 2: 120,031,323 Y182* probably null Het
Jup A T 11: 100,383,458 D135E probably benign Het
Kit T A 5: 75,652,808 I881N probably damaging Het
Llgl1 T A 11: 60,702,865 S55T probably benign Het
Lonp2 G A 8: 86,709,096 M653I probably benign Het
Lrp8 T C 4: 107,854,320 Y307H probably damaging Het
Med13 A T 11: 86,278,796 M1914K possibly damaging Het
Ms4a1 A G 19: 11,253,173 probably null Het
Naip1 A G 13: 100,427,341 S439P probably benign Het
Nrg1 T C 8: 31,821,264 R476G probably damaging Het
Olfr1129 T A 2: 87,574,918 probably null Het
Olfr835 G T 9: 19,035,301 M59I probably damaging Het
Pds5b T A 5: 150,805,561 probably null Het
Phf12 G A 11: 78,027,373 G804R probably damaging Het
Pou6f2 T C 13: 18,239,489 T234A Het
Prune2 A T 19: 17,120,590 I1153L probably benign Het
Ptprc C T 1: 138,067,885 probably null Het
Qpctl T C 7: 19,149,154 Q11R probably benign Het
Rfx4 A G 10: 84,840,228 K103E possibly damaging Het
Srcin1 T A 11: 97,551,980 probably null Het
St6galnac1 G T 11: 116,768,944 A181D probably damaging Het
Stk36 T C 1: 74,622,239 V475A probably benign Het
Tbc1d21 T C 9: 58,361,288 T263A possibly damaging Het
Tex24 A T 8: 27,345,000 K185N probably damaging Het
Tnxb T A 17: 34,698,153 V2174E possibly damaging Het
Tollip A G 7: 141,890,845 S57P probably benign Het
Zbtb49 A G 5: 38,213,241 probably benign Het
Zfp758 A G 17: 22,361,669 T30A probably benign 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
IGL02480:Aadac APN 3 60039487 missense probably benign 0.12
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
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
R8793:Aadac UTSW 3 60038383 missense probably damaging 1.00
R8829:Aadac UTSW 3 60031819 missense probably benign 0.01
R9408:Aadac UTSW 3 60039565 missense probably benign 0.33
R9796:Aadac UTSW 3 60038461 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACTGTCTGTGAGGAGCAG -3'
(R):5'- CACCACTGTTACTGTGTTCTGATG -3'

Sequencing Primer
(F):5'- CTGTCTGTGAGGAGCAGCAGAC -3'
(R):5'- ACTGTGTTCTGATGATTTCTGCAC -3'
Posted On 2018-09-12