Incidental Mutation 'IGL01524:Aadat'
ID89515
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 #IGL01524
Quality Score
Status
Chromosome8
Chromosomal Location60505932-60545677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 60516072 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 117 (D117V)
Ref Sequence ENSEMBL: ENSMUSP00000148060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079472
AA Change: D110V

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: D110V

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: D117V

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Glo1 T C 17: 30,596,419 R141G possibly damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C 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
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
Posted On2013-12-03