Incidental Mutation 'R6920:Aadat'
ID 539582
Institutional Source Beutler Lab
Gene Symbol Aadat
Ensembl Gene ENSMUSG00000057228
Gene Name aminoadipate aminotransferase
Synonyms Kat2, Kyat2, KATII, mKat-2
MMRRC Submission 045040-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6920 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 60958966-60998711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60982467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 245 (F245L)
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: F238L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: F238L

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: F245L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.2%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,773,811 (GRCm39) Y1000F probably damaging Het
1700018B08Rik A G 8: 122,262,160 (GRCm39) probably null Het
Adcy10 T G 1: 165,403,227 (GRCm39) L1575W probably damaging Het
Anks4b A T 7: 119,782,231 (GRCm39) T421S probably damaging Het
Anpep A T 7: 79,475,097 (GRCm39) I155N probably damaging Het
Arnt T C 3: 95,397,932 (GRCm39) F572L probably damaging Het
Brip1 G A 11: 86,039,362 (GRCm39) Q391* probably null Het
Brpf3 C A 17: 29,042,970 (GRCm39) H1004N probably benign Het
Cand2 T A 6: 115,768,250 (GRCm39) V465D possibly damaging Het
Card10 G T 15: 78,686,609 (GRCm39) Y69* probably null Het
Catsperd A T 17: 56,962,175 (GRCm39) K450* probably null Het
Ccdc137 T C 11: 120,351,009 (GRCm39) L137P probably damaging Het
Cic T C 7: 24,990,107 (GRCm39) S1905P probably damaging Het
Csmd3 C T 15: 47,507,601 (GRCm39) G2971S probably damaging Het
Dmxl2 A G 9: 54,379,496 (GRCm39) Y183H probably damaging Het
Drosha T C 15: 12,834,396 (GRCm39) Y167H unknown Het
E330034G19Rik A G 14: 24,358,310 (GRCm39) K214R unknown Het
Fam180a T G 6: 35,290,765 (GRCm39) I73L possibly damaging Het
Fbxo28 G T 1: 182,168,986 (GRCm39) H51N probably benign Het
Gm12728 T G 4: 105,647,533 (GRCm39) probably null Het
Gm973 T C 1: 59,591,620 (GRCm39) C335R possibly damaging Het
Gpx8 A G 13: 113,179,770 (GRCm39) V177A probably damaging Het
Hdlbp A G 1: 93,340,083 (GRCm39) probably null Het
Htt T G 5: 35,034,444 (GRCm39) Y1972D probably null Het
Igkv6-14 T C 6: 70,412,116 (GRCm39) Y56C possibly damaging Het
Kcnma1 A G 14: 23,576,602 (GRCm39) probably null Het
Klc1 T C 12: 111,754,019 (GRCm39) S105P probably damaging Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Lamc3 A G 2: 31,798,701 (GRCm39) D469G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Mboat4 G A 8: 34,591,865 (GRCm39) R434H probably benign Het
Mttp T C 3: 137,821,043 (GRCm39) K270E possibly damaging Het
Muc5ac G A 7: 141,347,035 (GRCm39) C337Y possibly damaging Het
Nars1 A G 18: 64,634,471 (GRCm39) V484A probably damaging Het
Noxa1 G T 2: 24,981,844 (GRCm39) probably null Het
Or14c45 A G 7: 86,176,522 (GRCm39) T186A probably benign Het
Or7g18 T A 9: 18,786,821 (GRCm39) L63H probably damaging Het
Osbpl7 G A 11: 96,941,584 (GRCm39) G36S probably damaging Het
P4htm C T 9: 108,460,812 (GRCm39) G220D probably benign Het
Pcdhga7 A G 18: 37,848,199 (GRCm39) I69V probably benign Het
Pla2g4e C T 2: 120,015,795 (GRCm39) E250K possibly damaging Het
Plcd4 A G 1: 74,604,994 (GRCm39) probably benign Het
Ppfia3 C A 7: 45,008,231 (GRCm39) G213V possibly damaging Het
Ppp1r1a A G 15: 103,441,513 (GRCm39) S67P probably damaging Het
Prss43 T C 9: 110,657,680 (GRCm39) F193S probably benign Het
Rfx1 A G 8: 84,822,117 (GRCm39) Y872C probably damaging Het
Rhot1 T A 11: 80,132,921 (GRCm39) N218K probably benign Het
Sall1 A G 8: 89,757,021 (GRCm39) F1028L probably damaging Het
Siglec1 G A 2: 130,919,997 (GRCm39) Q845* probably null Het
Slc38a9 C T 13: 112,838,060 (GRCm39) T275I possibly damaging Het
Slc39a4 A T 15: 76,497,470 (GRCm39) S481T probably damaging Het
Ssr1 A T 13: 38,169,998 (GRCm39) N191K probably damaging Het
Tenm4 A T 7: 96,544,757 (GRCm39) S2258C probably damaging Het
Tm7sf3 T G 6: 146,507,645 (GRCm39) R472S possibly damaging Het
Tmprss11a G A 5: 86,576,494 (GRCm39) T119M probably benign Het
Traip C T 9: 107,838,240 (GRCm39) R142* probably null Het
Utrn T C 10: 12,626,214 (GRCm39) N100D probably damaging Het
Vmn1r74 T C 7: 11,581,575 (GRCm39) S292P probably benign Het
Vmn2r71 A T 7: 85,273,108 (GRCm39) I641F probably damaging Het
Vmn2r9 T A 5: 108,996,912 (GRCm39) Y119F possibly damaging Het
Vmn2r98 A G 17: 19,285,510 (GRCm39) N110S probably damaging Het
Vwce A G 19: 10,642,057 (GRCm39) T928A probably benign Het
Zfp608 T A 18: 55,121,337 (GRCm39) K83N probably damaging Het
Zfp808 A G 13: 62,320,982 (GRCm39) H737R probably benign Het
Zswim4 T C 8: 84,940,714 (GRCm39) N795S probably benign 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
R0294:Aadat UTSW 8 60,987,642 (GRCm39) missense possibly damaging 0.77
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
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'- CCACCCTCGATGTTTGGAATAAG -3'
(R):5'- AATGCACGTCTCAGAGAACTAGAG -3'

Sequencing Primer
(F):5'- CCCTCGATGTTTGGAATAAGAGGAAC -3'
(R):5'- TCTCAGAGAACTAGAGATCCTAAAAG -3'
Posted On 2018-11-06