Incidental Mutation 'R0294:Aadat'
ID 26294
Institutional Source Beutler Lab
Gene Symbol Aadat
Ensembl Gene ENSMUSG00000057228
Gene Name aminoadipate aminotransferase
Synonyms Kat2, Kyat2, KATII, mKat-2
MMRRC Submission 038511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0294 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 60958966-60998711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60987642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 319 (E319G)
Ref Sequence ENSEMBL: ENSMUSP00000148060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000209338]
AlphaFold Q9WVM8
Predicted Effect possibly damaging
Transcript: ENSMUST00000079472
AA Change: E312G

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: E312G

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 417 2.6e-22 PFAM
Pfam:Aminotran_MocR 124 424 7.6e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209338
AA Change: E319G

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.4%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Abca13 A G 11: 9,219,122 (GRCm39) probably null Het
Actl7b A T 4: 56,740,848 (GRCm39) L170Q possibly damaging Het
Adam29 C A 8: 56,326,311 (GRCm39) V48L probably benign Het
Aknad1 A G 3: 108,682,508 (GRCm39) Y528C probably damaging Het
Alas1 T A 9: 106,118,455 (GRCm39) K222N probably damaging Het
Aplf A G 6: 87,623,227 (GRCm39) V284A probably benign Het
Atp11a G A 8: 12,877,524 (GRCm39) V317M probably benign Het
Bub3 A G 7: 131,169,953 (GRCm39) E206G possibly damaging Het
Cblb T G 16: 51,956,187 (GRCm39) F263L probably damaging Het
Ces2h T A 8: 105,743,236 (GRCm39) M157K probably benign Het
Cfh A G 1: 140,110,999 (GRCm39) F6L probably benign Het
Chst1 G T 2: 92,443,987 (GRCm39) R153L probably damaging Het
Cimap2 T C 4: 106,470,361 (GRCm39) D232G probably damaging Het
Cntnap5a T A 1: 115,843,046 (GRCm39) N121K probably benign Het
Crybg1 A T 10: 43,862,372 (GRCm39) S1467R probably damaging Het
Cyp2d22 A G 15: 82,258,646 (GRCm39) F72L possibly damaging Het
Dmrt2 C T 19: 25,655,435 (GRCm39) P345S probably damaging Het
Dock8 T C 19: 25,165,714 (GRCm39) I1866T probably damaging Het
Egfem1 A G 3: 29,744,270 (GRCm39) N503S probably damaging Het
Ehbp1 T C 11: 22,045,427 (GRCm39) D774G probably benign Het
Foxp2 C A 6: 15,376,773 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,547 (GRCm39) V99A possibly damaging Het
Grm1 A T 10: 10,956,143 (GRCm39) I47N probably damaging Het
H2aj C G 6: 136,785,602 (GRCm39) R89G probably damaging Het
Hsdl2 T A 4: 59,601,408 (GRCm39) S127T probably benign Het
Il5ra A T 6: 106,689,362 (GRCm39) M410K probably benign Het
Ints7 A G 1: 191,344,003 (GRCm39) S548G possibly damaging Het
Kcnt1 A G 2: 25,778,122 (GRCm39) E80G probably damaging Het
Lgr6 T A 1: 135,032,799 (GRCm39) Q27L unknown Het
Lgr6 A G 1: 134,915,629 (GRCm39) V373A probably damaging Het
Map3k14 T C 11: 103,117,963 (GRCm39) I610V possibly damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Metap1d T A 2: 71,352,889 (GRCm39) H239Q probably benign Het
Mgst2 A G 3: 51,589,251 (GRCm39) Y88C probably damaging Het
Mroh4 T C 15: 74,477,998 (GRCm39) N903D probably benign Het
Nbeal2 T G 9: 110,461,927 (GRCm39) D1476A probably damaging Het
Nlgn1 C A 3: 26,187,625 (GRCm39) A87S probably benign Het
Nln C T 13: 104,189,087 (GRCm39) G295S probably damaging Het
Nnt T A 13: 119,472,803 (GRCm39) Y719F probably benign Het
Nnt T G 13: 119,474,953 (GRCm39) I659L possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or51b17 A T 7: 103,542,137 (GRCm39) H268Q probably benign Het
Or52s6 G A 7: 103,092,291 (GRCm39) T13I possibly damaging Het
Or5p78 A T 7: 108,212,357 (GRCm39) Y281F probably damaging Het
Or9g4 A G 2: 85,505,060 (GRCm39) V145A probably damaging Het
Otogl C T 10: 107,613,089 (GRCm39) C2041Y probably damaging Het
Patj G T 4: 98,385,285 (GRCm39) D300Y probably damaging Het
Pkhd1l1 A T 15: 44,423,831 (GRCm39) E3124D probably benign Het
Plbd2 A G 5: 120,625,514 (GRCm39) probably null Het
Pphln1 T C 15: 93,318,171 (GRCm39) Y57H probably damaging Het
Ppp1r16b C T 2: 158,588,523 (GRCm39) T78M probably damaging Het
Prss40 T G 1: 34,595,162 (GRCm39) D224A possibly damaging Het
Senp6 A G 9: 80,021,007 (GRCm39) probably null Het
Shank3 A G 15: 89,416,301 (GRCm39) E666G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc22a18 G A 7: 143,046,578 (GRCm39) probably null Het
Slc5a4b A G 10: 75,917,161 (GRCm39) C292R probably damaging Het
Spata31e5 T C 1: 28,817,744 (GRCm39) Q96R probably benign Het
Sphkap T A 1: 83,255,966 (GRCm39) E594D possibly damaging Het
Srpra T A 9: 35,126,811 (GRCm39) M61K probably damaging Het
Trmt10c A T 16: 55,855,240 (GRCm39) Y132N possibly damaging Het
Other mutations in Aadat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Aadat APN 8 60,988,792 (GRCm39) missense probably benign 0.11
IGL01123:Aadat APN 8 60,979,648 (GRCm39) missense probably benign 0.14
IGL01524:Aadat APN 8 60,969,106 (GRCm39) missense probably damaging 0.97
IGL01767:Aadat APN 8 60,960,126 (GRCm39) missense probably damaging 0.96
IGL02824:Aadat APN 8 60,969,056 (GRCm39) missense probably benign 0.01
IGL03150:Aadat APN 8 60,996,596 (GRCm39) missense probably damaging 0.97
IGL03356:Aadat APN 8 60,984,725 (GRCm39) missense probably damaging 1.00
R0015:Aadat UTSW 8 60,987,605 (GRCm39) splice site probably benign
R0533:Aadat UTSW 8 60,984,797 (GRCm39) splice site probably benign
R0631:Aadat UTSW 8 60,982,479 (GRCm39) splice site probably benign
R1585:Aadat UTSW 8 60,979,714 (GRCm39) missense possibly damaging 0.67
R1728:Aadat UTSW 8 60,979,746 (GRCm39) missense probably damaging 1.00
R1729:Aadat UTSW 8 60,979,746 (GRCm39) missense probably damaging 1.00
R2051:Aadat UTSW 8 60,960,173 (GRCm39) missense probably benign 0.00
R2362:Aadat UTSW 8 60,985,332 (GRCm39) splice site probably benign
R3971:Aadat UTSW 8 60,971,615 (GRCm39) missense probably damaging 1.00
R4126:Aadat UTSW 8 60,984,703 (GRCm39) missense probably benign 0.00
R4736:Aadat UTSW 8 60,993,140 (GRCm39) missense probably benign 0.30
R4739:Aadat UTSW 8 60,993,140 (GRCm39) missense probably benign 0.30
R4750:Aadat UTSW 8 60,979,634 (GRCm39) missense probably benign 0.10
R4874:Aadat UTSW 8 60,969,147 (GRCm39) critical splice donor site probably null
R4884:Aadat UTSW 8 60,979,663 (GRCm39) missense probably damaging 1.00
R5233:Aadat UTSW 8 60,979,656 (GRCm39) missense probably benign 0.01
R5367:Aadat UTSW 8 60,979,630 (GRCm39) missense probably damaging 1.00
R6920:Aadat UTSW 8 60,982,467 (GRCm39) missense probably damaging 0.97
R7064:Aadat UTSW 8 60,984,746 (GRCm39) missense probably damaging 1.00
R7194:Aadat UTSW 8 60,979,656 (GRCm39) missense probably benign 0.01
R7316:Aadat UTSW 8 60,979,668 (GRCm39) missense probably damaging 0.98
R7634:Aadat UTSW 8 60,969,102 (GRCm39) missense probably benign 0.09
R8672:Aadat UTSW 8 60,959,179 (GRCm39) unclassified probably benign
R8711:Aadat UTSW 8 60,969,120 (GRCm39) missense probably benign 0.01
R8803:Aadat UTSW 8 60,998,290 (GRCm39) missense probably benign 0.14
R8919:Aadat UTSW 8 60,993,158 (GRCm39) missense possibly damaging 0.94
R9204:Aadat UTSW 8 60,996,566 (GRCm39) missense possibly damaging 0.90
R9207:Aadat UTSW 8 60,979,657 (GRCm39) missense probably damaging 1.00
R9313:Aadat UTSW 8 60,979,635 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- ACCTAGACTCCTTGTTGGTCTCCTATG -3'
(R):5'- TGACTTTGAATGCTGCTGAGAAGACTT -3'

Sequencing Primer
(F):5'- CTTGTTGGTCTCCTATGTGTTTAC -3'
(R):5'- tgtagtacacagacataagtacagg -3'
Posted On 2013-04-16