Incidental Mutation 'IGL00822:Aadat'
ID8511
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 #IGL00822
Quality Score
Status
Chromosome8
Chromosomal Location60505932-60545677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60535758 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 332 (S332P)
Ref Sequence ENSEMBL: ENSMUSP00000078436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
Predicted Effect probably benign
Transcript: ENSMUST00000079472
AA Change: S332P

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: S332P

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: S339P

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,950,046 F1005L probably benign Het
Actr2 G A 11: 20,094,367 R80W probably damaging Het
Adck1 T C 12: 88,455,516 I299T probably damaging Het
Armc4 A T 18: 7,181,817 L836M probably damaging Het
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Car15 A T 16: 17,836,634 M146K probably damaging Het
Cyp4f39 A G 17: 32,470,832 N84S probably benign Het
Dock8 G T 19: 25,188,409 E1886* probably null Het
Kansl2 T C 15: 98,528,853 probably benign Het
Klc2 A T 19: 5,111,513 V323E probably damaging Het
Lrrc7 A G 3: 158,185,474 V352A probably damaging Het
Lrrc8c G T 5: 105,608,308 A650S probably benign Het
Ltbp1 A G 17: 75,151,321 Y299C probably damaging Het
Myh13 A G 11: 67,361,328 T1421A probably damaging Het
Myl3 C A 9: 110,766,489 T56K possibly damaging Het
Nod1 T C 6: 54,944,946 Y129C probably damaging Het
Otog G A 7: 46,295,880 S2187N probably benign Het
Pank4 G A 4: 154,980,602 R786H possibly damaging Het
Sag A G 1: 87,845,026 probably null Het
Scn2b G A 9: 45,125,544 V117M probably damaging Het
Sec16b G T 1: 157,564,555 A886S probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spns3 A T 11: 72,499,353 probably null Het
Styk1 T C 6: 131,301,662 K350E possibly damaging Het
Tns3 G A 11: 8,443,976 T1291I probably damaging Het
Xntrpc A G 7: 102,084,368 I175V probably damaging Het
Zfp106 G A 2: 120,514,160 R1745C probably damaging Het
Other mutations in Aadat
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02824:Aadat APN 8 60516022 missense probably benign 0.01
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 On2012-12-06