Incidental Mutation 'IGL03150:Aadat'
ID411053
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 #IGL03150
Quality Score
Status
Chromosome8
Chromosomal Location60505932-60545677 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 60543562 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 399 (S399L)
Ref Sequence ENSEMBL: ENSMUSP00000148060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079472
AA Change: S392L

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: S392L

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: S399L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 36,948,066 S1387P probably damaging Het
C530008M17Rik G A 5: 76,867,250 E57K probably damaging Het
Ccdc36 G T 9: 108,404,956 T511K probably damaging Het
Corin T C 5: 72,302,858 D886G probably damaging Het
Eif2ak3 A T 6: 70,892,436 K702N possibly damaging Het
Ercc6 G T 14: 32,558,574 M709I probably damaging Het
Foxa1 T A 12: 57,542,296 E379D probably benign Het
Fscb C T 12: 64,472,430 G754D unknown Het
Gzmb C T 14: 56,260,382 V134I probably benign Het
Muc5b A G 7: 141,865,509 T4010A possibly damaging Het
Necab3 A G 2: 154,554,742 Y55H probably damaging Het
Nova1 T C 12: 46,700,672 N274S possibly damaging Het
Nup54 C A 5: 92,428,164 G156V probably damaging Het
Obscn A T 11: 59,051,723 C4317S probably damaging Het
Papln T A 12: 83,782,984 W960R probably damaging Het
Pax4 C A 6: 28,444,339 G239W probably null Het
Pcdhb15 C A 18: 37,475,014 T433N probably damaging Het
Ptprj A G 2: 90,460,611 S502P probably damaging Het
Slit3 A G 11: 35,508,257 R150G possibly damaging Het
Srgap2 A T 1: 131,310,600 V658E probably damaging Het
Taar7e A T 10: 24,037,630 D6V probably benign Het
Trim25 T C 11: 89,000,005 C173R probably damaging Het
Trmt1l T C 1: 151,453,892 S529P probably benign Het
Ubn2 C T 6: 38,463,714 P174S probably benign Het
Ubox5 A G 2: 130,600,140 V209A probably benign Het
Vmn2r72 A G 7: 85,751,176 F222L probably damaging Het
Xpot C T 10: 121,609,186 A374T probably benign Het
Zfp451 A G 1: 33,777,454 C472R probably damaging Het
Zfp777 A G 6: 48,044,125 W232R probably 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
IGL02824:Aadat APN 8 60516022 missense probably benign 0.01
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 On2016-08-02