Incidental Mutation 'R2051:Aadat'
ID 226433
Institutional Source Beutler Lab
Gene Symbol Aadat
Ensembl Gene ENSMUSG00000057228
Gene Name aminoadipate aminotransferase
Synonyms KATII, Kat2, mKat-2
MMRRC Submission 040058-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2051 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 60505932-60545677 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 60507139 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 40 (S40T)
Ref Sequence ENSEMBL: ENSMUSP00000078436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079472] [ENSMUST00000093494] [ENSMUST00000209338]
AlphaFold Q9WVM8
Predicted Effect probably benign
Transcript: ENSMUST00000079472
AA Change: S40T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000078436
Gene: ENSMUSG00000057228
AA Change: S40T

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 64 417 2.6e-22 PFAM
Pfam:Aminotran_MocR 124 424 7.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093494
Predicted Effect probably benign
Transcript: ENSMUST00000209338
AA Change: S47T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211032
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,564,185 (GRCm38) T98M probably damaging Het
4932414N04Rik G T 2: 68,711,048 (GRCm38) K10N possibly damaging Het
Abca13 A G 11: 9,328,098 (GRCm38) I3093V probably benign Het
Acacb A T 5: 114,245,890 (GRCm38) Q2160L probably damaging Het
Acp6 G T 3: 97,168,017 (GRCm38) S189I probably benign Het
Actr5 A T 2: 158,632,293 (GRCm38) M339L probably benign Het
Adcy1 A T 11: 7,161,885 (GRCm38) K917* probably null Het
Adgrg5 C T 8: 94,942,067 (GRCm38) R504C probably benign Het
Ago1 T C 4: 126,460,453 (GRCm38) H188R probably benign Het
Akap9 T A 5: 3,975,685 (GRCm38) C23* probably null Het
Ank3 T C 10: 69,898,090 (GRCm38) I728T probably damaging Het
Ankrd50 A G 3: 38,454,493 (GRCm38) S1242P probably benign Het
Arhgap29 G A 3: 121,981,860 (GRCm38) R84H probably benign Het
Arhgef10 A G 8: 14,945,320 (GRCm38) D7G probably null Het
Arid4b A G 13: 14,187,645 (GRCm38) E898G probably damaging Het
Atrnl1 A G 19: 57,691,849 (GRCm38) N727S probably benign Het
Baalc G T 15: 38,933,234 (GRCm38) probably benign Het
Cdc25c G C 18: 34,738,239 (GRCm38) L275V probably damaging Het
Chpf2 G T 5: 24,591,276 (GRCm38) V407L probably benign Het
Chrnb3 C A 8: 27,386,811 (GRCm38) N84K probably damaging Het
Cnot1 A G 8: 95,724,593 (GRCm38) F2171L possibly damaging Het
Csmd3 C T 15: 48,621,993 (GRCm38) probably null Het
Cux1 T A 5: 136,332,658 (GRCm38) Q138L probably damaging Het
Cyp2c65 A G 19: 39,082,231 (GRCm38) N286S probably benign Het
Dclre1b T C 3: 103,809,040 (GRCm38) S17G possibly damaging Het
Dlgap5 A G 14: 47,411,484 (GRCm38) S221P probably benign Het
Dnah1 T G 14: 31,279,123 (GRCm38) T2422P probably damaging Het
Enpp1 A G 10: 24,711,804 (GRCm38) probably null Het
Erbb2 T C 11: 98,420,172 (GRCm38) C53R probably damaging Het
Exoc8 A G 8: 124,895,480 (GRCm38) V716A probably benign Het
Fam193a T A 5: 34,462,150 (GRCm38) D766E probably benign Het
Fbxo43 C A 15: 36,162,132 (GRCm38) G310W probably damaging Het
Fcgbp C T 7: 28,120,360 (GRCm38) T2504I probably damaging Het
Fnbp4 C T 2: 90,757,532 (GRCm38) P418L probably benign Het
Gjd2 T C 2: 114,011,058 (GRCm38) T313A probably damaging Het
Gm12695 T A 4: 96,769,771 (GRCm38) R54W probably damaging Het
Gm128 T C 3: 95,240,740 (GRCm38) D81G possibly damaging Het
Gm21834 A G 17: 57,741,768 (GRCm38) V151A possibly damaging Het
Grhl1 T A 12: 24,586,152 (GRCm38) probably null Het
Hcn1 C T 13: 117,976,083 (GRCm38) T861I probably damaging Het
Herc6 C A 6: 57,625,976 (GRCm38) Q547K probably benign Het
Iqgap3 T C 3: 88,120,167 (GRCm38) L699P probably damaging Het
Kank4 T C 4: 98,780,102 (GRCm38) D36G probably damaging Het
Kcnk5 A T 14: 20,142,209 (GRCm38) S295T probably damaging Het
Krt18 T C 15: 102,029,500 (GRCm38) V144A probably benign Het
Krtap9-5 A G 11: 99,949,204 (GRCm38) I244V unknown Het
Leng1 T G 7: 3,665,401 (GRCm38) N16T probably damaging Het
Lss A G 10: 76,531,878 (GRCm38) K15E possibly damaging Het
Mastl G T 2: 23,132,824 (GRCm38) A629E possibly damaging Het
Mavs G C 2: 131,240,450 (GRCm38) A85P possibly damaging Het
Nav3 T C 10: 109,824,675 (GRCm38) D678G probably damaging Het
Nsd3 T G 8: 25,691,089 (GRCm38) S906A probably damaging Het
Nsfl1c A G 2: 151,503,082 (GRCm38) N118S probably damaging Het
Nup205 T A 6: 35,230,516 (GRCm38) M1501K probably benign Het
Or4p7 C T 2: 88,391,538 (GRCm38) T97M possibly damaging Het
Or6n1 T A 1: 174,089,219 (GRCm38) Y60N possibly damaging Het
Pax8 A G 2: 24,436,508 (GRCm38) S281P probably benign Het
Pds5b T G 5: 150,748,190 (GRCm38) I433R probably damaging Het
Peg3 T C 7: 6,712,721 (GRCm38) N117D probably damaging Het
Pfkm A T 15: 98,131,692 (GRCm38) D728V probably benign Het
Phkb T C 8: 86,049,821 (GRCm38) probably null Het
Pkp4 T C 2: 59,334,904 (GRCm38) V704A probably benign Het
Ppfia2 T A 10: 106,837,299 (GRCm38) S501T probably damaging Het
Ptpru T C 4: 131,819,087 (GRCm38) E284G possibly damaging Het
Ror1 C T 4: 100,407,868 (GRCm38) R180* probably null Het
Ryr3 T A 2: 112,756,641 (GRCm38) Y2666F probably damaging Het
Sec23a C A 12: 58,990,968 (GRCm38) probably null Het
Sertad3 C T 7: 27,476,269 (GRCm38) Q43* probably null Het
Setd2 C T 9: 110,550,890 (GRCm38) H1258Y probably benign Het
Sharpin A G 15: 76,348,207 (GRCm38) S177P probably benign Het
Skap1 T C 11: 96,541,463 (GRCm38) F86S possibly damaging Het
Slc8a2 T C 7: 16,141,015 (GRCm38) I396T probably damaging Het
Slc9a2 T C 1: 40,726,437 (GRCm38) F329S probably damaging Het
Slx4ip C T 2: 137,066,205 (GRCm38) L161F possibly damaging Het
Sox4 A G 13: 28,952,781 (GRCm38) S81P probably damaging Het
Ssc4d G T 5: 135,970,264 (GRCm38) S28R probably benign Het
St8sia2 C T 7: 73,943,202 (GRCm38) G369S possibly damaging Het
Swt1 T C 1: 151,372,330 (GRCm38) Y836C probably damaging Het
Taar7d A G 10: 24,028,006 (GRCm38) D262G probably benign Het
Taar8b T A 10: 24,091,314 (GRCm38) L327F probably benign Het
Tars1 A T 15: 11,393,194 (GRCm38) L138* probably null Het
Tbcd A T 11: 121,453,670 (GRCm38) D75V probably damaging Het
Tesc A G 5: 118,046,329 (GRCm38) I25V probably damaging Het
Tmem132e G T 11: 82,440,438 (GRCm38) S407I probably damaging Het
Tmem50b C A 16: 91,580,292 (GRCm38) A95S possibly damaging Het
Tnr T C 1: 159,892,033 (GRCm38) I960T probably benign Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Tpcn1 G C 5: 120,543,388 (GRCm38) P532A probably damaging Het
Tpsb2 T C 17: 25,366,565 (GRCm38) probably benign Het
Triobp C A 15: 79,004,540 (GRCm38) H1948Q probably damaging Het
Tshb T C 3: 102,777,541 (GRCm38) I116V probably benign Het
Ttc13 A T 8: 124,672,211 (GRCm38) probably null Het
Usp34 A T 11: 23,464,468 (GRCm38) T2804S probably damaging Het
Vmn2r18 A T 5: 151,562,551 (GRCm38) C493S possibly damaging Het
Vmn2r2 T C 3: 64,117,345 (GRCm38) K605R possibly damaging Het
Vmn2r37 T C 7: 9,217,793 (GRCm38) Y357C probably damaging Het
Zc3h6 T G 2: 129,015,618 (GRCm38) S686A possibly damaging Het
Zfp608 G A 18: 54,988,314 (GRCm38) P67L probably benign Het
Zyg11a T C 4: 108,192,047 (GRCm38) probably benign Het
Other mutations in Aadat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Aadat APN 8 60,535,758 (GRCm38) missense probably benign 0.11
IGL01123:Aadat APN 8 60,526,614 (GRCm38) missense probably benign 0.14
IGL01524:Aadat APN 8 60,516,072 (GRCm38) missense probably damaging 0.97
IGL01767:Aadat APN 8 60,507,092 (GRCm38) missense probably damaging 0.96
IGL02824:Aadat APN 8 60,516,022 (GRCm38) missense probably benign 0.01
IGL03150:Aadat APN 8 60,543,562 (GRCm38) missense probably damaging 0.97
IGL03356:Aadat APN 8 60,531,691 (GRCm38) missense probably damaging 1.00
R0015:Aadat UTSW 8 60,534,571 (GRCm38) splice site probably benign
R0294:Aadat UTSW 8 60,534,608 (GRCm38) missense possibly damaging 0.77
R0533:Aadat UTSW 8 60,531,763 (GRCm38) splice site probably benign
R0631:Aadat UTSW 8 60,529,445 (GRCm38) splice site probably benign
R1585:Aadat UTSW 8 60,526,680 (GRCm38) missense possibly damaging 0.67
R1728:Aadat UTSW 8 60,526,712 (GRCm38) missense probably damaging 1.00
R1729:Aadat UTSW 8 60,526,712 (GRCm38) missense probably damaging 1.00
R2362:Aadat UTSW 8 60,532,298 (GRCm38) splice site probably benign
R3971:Aadat UTSW 8 60,518,581 (GRCm38) missense probably damaging 1.00
R4126:Aadat UTSW 8 60,531,669 (GRCm38) missense probably benign 0.00
R4736:Aadat UTSW 8 60,540,106 (GRCm38) missense probably benign 0.30
R4739:Aadat UTSW 8 60,540,106 (GRCm38) missense probably benign 0.30
R4750:Aadat UTSW 8 60,526,600 (GRCm38) missense probably benign 0.10
R4874:Aadat UTSW 8 60,516,113 (GRCm38) critical splice donor site probably null
R4884:Aadat UTSW 8 60,526,629 (GRCm38) missense probably damaging 1.00
R5233:Aadat UTSW 8 60,526,622 (GRCm38) missense probably benign 0.01
R5367:Aadat UTSW 8 60,526,596 (GRCm38) missense probably damaging 1.00
R6920:Aadat UTSW 8 60,529,433 (GRCm38) missense probably damaging 0.97
R7064:Aadat UTSW 8 60,531,712 (GRCm38) missense probably damaging 1.00
R7194:Aadat UTSW 8 60,526,622 (GRCm38) missense probably benign 0.01
R7316:Aadat UTSW 8 60,526,634 (GRCm38) missense probably damaging 0.98
R7634:Aadat UTSW 8 60,516,068 (GRCm38) missense probably benign 0.09
R8672:Aadat UTSW 8 60,506,145 (GRCm38) unclassified probably benign
R8711:Aadat UTSW 8 60,516,086 (GRCm38) missense probably benign 0.01
R8803:Aadat UTSW 8 60,545,256 (GRCm38) missense probably benign 0.14
R8919:Aadat UTSW 8 60,540,124 (GRCm38) missense possibly damaging 0.94
R9204:Aadat UTSW 8 60,543,532 (GRCm38) missense possibly damaging 0.90
R9207:Aadat UTSW 8 60,526,623 (GRCm38) missense probably damaging 1.00
R9313:Aadat UTSW 8 60,526,601 (GRCm38) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- ACTAATTCCATTTCTGACGGCAG -3'
(R):5'- TCTCAGTCACATCATCAATGGC -3'

Sequencing Primer
(F):5'- CTGACGGCAGAGTTTTTAATGATC -3'
(R):5'- TCATCAATGGCATTTAAAAATGAACC -3'
Posted On 2014-09-17