Incidental Mutation 'IGL02824:Aadat'
ID361136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aadat
Ensembl Gene ENSMUSG00000057228
Gene Nameaminoadipate aminotransferase
SynonymsKATII, Kat2, mKat-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02824
Quality Score
Status
Chromosome8
Chromosomal Location60505932-60545677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60516022 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 93 (K93N)
Ref Sequence ENSEMBL: ENSMUSP00000078436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
Predicted Effect probably benign
Transcript: ENSMUST00000079472
AA Change: K93N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: K93N

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 417 2.6e-22 PFAM
Pfam:Aminotran_MocR 124 424 7.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209338
AA Change: K100N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211032
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
PHENOTYPE: Homozygous null mice are viable and display earlier eye opening and development of air righting and open field crossing responses, and transient hyperactivity and neuronal abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,702,319 probably benign Het
Abcb5 A G 12: 118,890,685 F832L probably benign Het
Abl1 A T 2: 31,800,819 K783N probably damaging Het
Agxt2 A G 15: 10,393,805 E423G probably null Het
Alkbh8 T C 9: 3,368,021 probably null Het
Ankrd36 T C 11: 5,574,246 I171T possibly damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Cd19 T C 7: 126,410,654 D446G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cyp4f39 T C 17: 32,468,685 probably null Het
Ehbp1l1 T C 19: 5,719,298 D659G probably benign Het
Eif3l A G 15: 79,075,823 probably null Het
F5 T C 1: 164,194,347 S1464P probably benign Het
Fut9 T C 4: 25,620,037 N259S probably damaging Het
Glb1l3 A T 9: 26,850,109 I209N probably damaging Het
Gpd2 A G 2: 57,364,327 E671G probably null Het
Heatr5b T C 17: 78,773,680 D1381G probably damaging Het
Ifi206 A T 1: 173,481,872 I186K possibly damaging Het
Izumo1 A G 7: 45,625,648 D236G probably benign Het
Klhl32 T A 4: 24,682,237 R149* probably null Het
Lrrn1 T C 6: 107,568,534 F431S possibly damaging Het
Man2b2 C T 5: 36,821,851 V282I probably benign Het
Mboat2 A G 12: 24,946,586 K164R probably benign Het
Mgarp T C 3: 51,389,087 T165A probably damaging Het
Midn T G 10: 80,153,652 I43S possibly damaging Het
Ndn A G 7: 62,348,834 I143V possibly damaging Het
Olfr1099 T C 2: 86,958,993 D155G probably benign Het
Olfr816 T C 10: 129,911,696 E194G probably damaging Het
Pcnx4 T C 12: 72,555,571 V278A probably benign Het
Prr30 A G 14: 101,198,518 F203L probably benign Het
Scd4 T C 19: 44,341,259 L223P probably damaging Het
Setdb1 T C 3: 95,339,904 probably benign Het
Smtn A G 11: 3,532,658 Y105H probably damaging Het
Spata19 A G 9: 27,397,729 I54M possibly damaging Het
Syk A T 13: 52,623,283 probably benign Het
Trim44 A G 2: 102,400,195 F164L possibly damaging Het
Zfp503 C T 14: 21,985,094 G585S possibly damaging Het
Other mutations in Aadat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Aadat APN 8 60535758 missense probably benign 0.11
IGL01123:Aadat APN 8 60526614 missense probably benign 0.14
IGL01524:Aadat APN 8 60516072 missense probably damaging 0.97
IGL01767:Aadat APN 8 60507092 missense probably damaging 0.96
IGL03150:Aadat APN 8 60543562 missense probably damaging 0.97
IGL03356:Aadat APN 8 60531691 missense probably damaging 1.00
R0015:Aadat UTSW 8 60534571 splice site probably benign
R0294:Aadat UTSW 8 60534608 missense possibly damaging 0.77
R0533:Aadat UTSW 8 60531763 splice site probably benign
R0631:Aadat UTSW 8 60529445 splice site probably benign
R1585:Aadat UTSW 8 60526680 missense possibly damaging 0.67
R1728:Aadat UTSW 8 60526712 missense probably damaging 1.00
R1729:Aadat UTSW 8 60526712 missense probably damaging 1.00
R2051:Aadat UTSW 8 60507139 missense probably benign 0.00
R2362:Aadat UTSW 8 60532298 splice site probably benign
R3971:Aadat UTSW 8 60518581 missense probably damaging 1.00
R4126:Aadat UTSW 8 60531669 missense probably benign 0.00
R4736:Aadat UTSW 8 60540106 missense probably benign 0.30
R4739:Aadat UTSW 8 60540106 missense probably benign 0.30
R4750:Aadat UTSW 8 60526600 missense probably benign 0.10
R4874:Aadat UTSW 8 60516113 critical splice donor site probably null
R4884:Aadat UTSW 8 60526629 missense probably damaging 1.00
R5233:Aadat UTSW 8 60526622 missense probably benign 0.01
R5367:Aadat UTSW 8 60526596 missense probably damaging 1.00
R6920:Aadat UTSW 8 60529433 missense probably damaging 0.97
R7064:Aadat UTSW 8 60531712 missense probably damaging 1.00
R7194:Aadat UTSW 8 60526622 missense probably benign 0.01
R7316:Aadat UTSW 8 60526634 missense probably damaging 0.98
R7634:Aadat UTSW 8 60516068 missense probably benign 0.09
Posted On2015-12-18