Incidental Mutation 'IGL03356:Aadat'
ID419940
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 #IGL03356
Quality Score
Status
Chromosome8
Chromosomal Location60505932-60545677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60531691 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 256 (M256T)
Ref Sequence ENSEMBL: ENSMUSP00000148060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
Predicted Effect probably damaging
Transcript: ENSMUST00000079472
AA Change: M249T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: M249T

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 417 2.6e-22 PFAM
Pfam:Aminotran_MocR 124 424 7.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209338
AA Change: M256T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930467E23Rik A G 8: 19,749,447 I304V probably benign Het
A1bg A C 15: 60,919,888 M233R probably benign Het
Adamts16 T C 13: 70,753,291 N889S probably benign Het
Camkk2 A T 5: 122,743,874 I235N probably damaging Het
Card6 C T 15: 5,100,241 A558T probably benign Het
Ccdc105 A G 10: 78,747,132 C473R possibly damaging Het
Ccdc175 T G 12: 72,139,893 probably null Het
Crot A G 5: 8,988,295 probably benign Het
Cyp2c67 A G 19: 39,639,961 S180P probably damaging Het
Ddx55 A G 5: 124,554,753 N81S possibly damaging Het
Dennd3 C T 15: 73,568,633 T1171M probably benign Het
Dnah7a T C 1: 53,503,934 D2359G probably benign Het
Dpp8 T A 9: 65,045,787 N248K probably benign Het
Ganc T C 2: 120,435,288 I439T probably benign Het
Gdpgp1 T C 7: 80,238,695 I158T possibly damaging Het
Grm3 T C 5: 9,512,206 D548G possibly damaging Het
H2-DMb1 T A 17: 34,157,540 probably benign Het
Hecw2 A G 1: 53,927,058 probably benign Het
Hs3st2 A G 7: 121,393,166 E113G probably damaging Het
Hspa4 C A 11: 53,269,800 R483L probably damaging Het
Ik C A 18: 36,756,604 S490R probably damaging Het
Ldlrad1 G A 4: 107,214,838 V86M possibly damaging Het
Mfsd4b1 A C 10: 40,002,831 F357V probably damaging Het
Ndufa9 A G 6: 126,844,850 V54A possibly damaging Het
Nfe2l2 A G 2: 75,679,200 I92T probably benign Het
Oas1a A G 5: 120,905,845 S75P probably damaging Het
Oca2 T G 7: 56,535,968 M814R probably benign Het
Phlpp2 A G 8: 109,935,617 T879A probably benign Het
Rpe65 A T 3: 159,615,577 Y342F possibly damaging Het
Satb2 T C 1: 56,891,174 K230R probably damaging Het
Slc4a4 A G 5: 89,122,483 T297A probably benign Het
Slpi T C 2: 164,356,209 T22A probably benign Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Synj1 A G 16: 90,987,392 F286S probably damaging Het
Tigd2 T A 6: 59,211,705 I519K probably benign Het
Tyr G T 7: 87,492,714 L136I possibly damaging Het
Vmn1r34 A T 6: 66,636,986 M256K probably benign Het
Zmym2 T A 14: 56,957,060 C1258* probably null 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
IGL02824:Aadat APN 8 60516022 missense probably benign 0.01
IGL03150:Aadat APN 8 60543562 missense probably damaging 0.97
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 On2016-08-02