Incidental Mutation 'IGL01626:Aadacl2'
ID92783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadacl2
Ensembl Gene ENSMUSG00000091376
Gene Namearylacetamide deacetylase like 2
SynonymsEG639634
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01626
Quality Score
Status
Chromosome3
Chromosomal Location60006743-60025420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60019174 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 188 (D188G)
Ref Sequence ENSEMBL: ENSMUSP00000129444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169794]
Predicted Effect probably damaging
Transcript: ENSMUST00000169794
AA Change: D188G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: D188G

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:COesterase 91 219 2.7e-7 PFAM
Pfam:Abhydrolase_3 107 272 8.2e-38 PFAM
Pfam:Abhydrolase_3 270 375 3.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195422
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 G A 4: 58,832,814 probably benign Het
Aoc1 A G 6: 48,906,531 Y447C probably damaging Het
Brd1 A T 15: 88,700,887 L915M probably damaging Het
Cacna2d3 T A 14: 28,943,607 E152D possibly damaging Het
Dnase2b A G 3: 146,584,616 probably null Het
Fat4 T C 3: 38,951,032 V1860A probably damaging Het
Fbxl5 C A 5: 43,758,705 G455V probably benign Het
Fpr-rs4 G A 17: 18,022,231 V167M probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gnptab A G 10: 88,437,495 T1045A probably damaging Het
Gucy1a1 T A 3: 82,108,619 D354V probably damaging Het
Gucy2e A G 11: 69,232,855 V406A possibly damaging Het
Herc2 T C 7: 56,085,142 F160S probably benign Het
Ice2 T G 9: 69,407,332 V42G probably benign Het
L3mbtl4 A G 17: 68,630,202 Y406C probably damaging Het
Lepr C T 4: 101,733,534 T103I probably benign Het
Ly75 T A 2: 60,301,015 M1589L probably benign Het
Map4k3 A G 17: 80,605,809 V644A probably damaging Het
Micall1 A G 15: 79,130,512 D696G possibly damaging Het
Muc4 T C 16: 32,736,402 V8A possibly damaging Het
Myo1h A G 5: 114,314,966 D9G probably damaging Het
Nop14 T A 5: 34,649,345 K472* probably null Het
Npat T A 9: 53,556,571 D275E possibly damaging Het
Nt5c1b A G 12: 10,374,798 T115A probably benign Het
Olfr429 A G 1: 174,089,556 N172S probably damaging Het
Olfr709-ps1 A T 7: 106,927,420 I13N probably benign Het
Pnpla7 T A 2: 25,050,893 S1086T possibly damaging Het
Pold1 C T 7: 44,533,372 probably null Het
Ppfia1 A G 7: 144,481,719 F1165L probably benign Het
Prlr T A 15: 10,328,718 D426E probably benign Het
Ptgs2 G A 1: 150,103,727 R231H probably damaging Het
Rorc A G 3: 94,388,787 D91G probably damaging Het
Scaper C T 9: 55,912,051 V127M possibly damaging Het
Sema3g A T 14: 31,221,727 Y188F probably damaging Het
Slc45a3 G T 1: 131,978,987 A400S possibly damaging Het
Slc9b2 C A 3: 135,336,395 H478Q probably benign Het
Spg11 T A 2: 122,060,971 H1973L probably damaging Het
Srgap3 A G 6: 112,773,648 Y359H probably damaging Het
Stx16 T G 2: 174,094,020 I248S probably damaging Het
Sytl3 A G 17: 6,735,440 R287G probably damaging Het
Tiam1 T C 16: 89,812,968 T82A probably damaging Het
Trpm1 T C 7: 64,268,889 L659P probably damaging Het
Ttc13 G A 8: 124,673,738 probably benign Het
Unc80 T C 1: 66,551,054 probably null Het
Vldlr G T 19: 27,243,773 R613L probably damaging Het
Wdr77 C T 3: 105,959,686 R35* probably null Het
Zc3h14 T G 12: 98,779,186 I478R possibly damaging Het
Zfp366 A G 13: 99,228,412 H27R probably damaging Het
Other mutations in Aadacl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Aadacl2 APN 3 60024676 missense probably benign
IGL01777:Aadacl2 APN 3 60024784 missense possibly damaging 0.61
IGL02189:Aadacl2 APN 3 60025188 missense probably damaging 0.99
IGL03238:Aadacl2 APN 3 60024918 missense probably benign 0.31
R0369:Aadacl2 UTSW 3 60024722 nonsense probably null
R0540:Aadacl2 UTSW 3 60019206 missense possibly damaging 0.50
R1440:Aadacl2 UTSW 3 60024892 missense probably damaging 0.99
R1589:Aadacl2 UTSW 3 60010576 missense probably benign 0.00
R1778:Aadacl2 UTSW 3 60017450 splice site probably null
R1781:Aadacl2 UTSW 3 60024696 missense probably damaging 1.00
R1812:Aadacl2 UTSW 3 60025077 missense probably damaging 1.00
R2411:Aadacl2 UTSW 3 60017423 missense possibly damaging 0.94
R4622:Aadacl2 UTSW 3 60007053 missense probably damaging 1.00
R4698:Aadacl2 UTSW 3 60025039 missense probably benign 0.00
R5326:Aadacl2 UTSW 3 60025063 missense probably damaging 1.00
R5542:Aadacl2 UTSW 3 60025063 missense probably damaging 1.00
R6314:Aadacl2 UTSW 3 60017403 missense probably damaging 1.00
R6469:Aadacl2 UTSW 3 60024789 missense probably benign 0.24
R6953:Aadacl2 UTSW 3 60024760 missense possibly damaging 0.78
R7082:Aadacl2 UTSW 3 60024885 missense probably damaging 1.00
R7206:Aadacl2 UTSW 3 60025241 missense probably benign 0.17
R7967:Aadacl2 UTSW 3 60024748 missense probably benign
R8000:Aadacl2 UTSW 3 60017375 missense possibly damaging 0.60
R8731:Aadacl2 UTSW 3 60024946 missense probably benign 0.08
Posted On2013-12-09