Incidental Mutation 'R5149:Tat'
ID395252
Institutional Source Beutler Lab
Gene Symbol Tat
Ensembl Gene ENSMUSG00000001670
Gene Nametyrosine aminotransferase
Synonyms
MMRRC Submission 042732-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.302) question?
Stock #R5149 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location109990437-109999803 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109996818 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 313 (S313G)
Ref Sequence ENSEMBL: ENSMUSP00000001720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001720] [ENSMUST00000143741]
PDB Structure
Crystal structural of mouse tyrosine aminotransferase [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000001720
AA Change: S313G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: S313G

DomainStartEndE-ValueType
Pfam:TAT_ubiq 1 40 2.2e-22 PFAM
Pfam:Aminotran_1_2 71 434 9.9e-80 PFAM
Pfam:Beta_elim_lyase 72 248 8.2e-6 PFAM
Pfam:Aminotran_5 111 247 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143741
SMART Domains Protein: ENSMUSP00000119061
Gene: ENSMUSG00000001670

DomainStartEndE-ValueType
Pfam:TAT_ubiq 1 40 2.4e-23 PFAM
Pfam:Aminotran_1_2 71 233 1.8e-41 PFAM
Pfam:Beta_elim_lyase 86 233 1.9e-7 PFAM
Pfam:DegT_DnrJ_EryC1 89 222 1.2e-7 PFAM
Pfam:Aminotran_5 93 233 1.2e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a liver-specific mitochondrial enzyme that catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Regulated by glucocorticoid and polypeptide hormones, this gene's expression is affected by deletion of a regulatory region near the albino locus on chromosome 7. Mutations in this gene cause tyrosinemia type II in humans. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg A G 16: 22,898,923 T245A probably benign Het
Akr1c13 G T 13: 4,194,169 V74L probably benign Het
Amt G A 9: 108,301,451 V389I possibly damaging Het
Ankrd26 T C 6: 118,558,996 N159S probably benign Het
Atp1a4 A G 1: 172,232,005 I840T probably damaging Het
Capn1 T C 19: 5,990,334 probably null Het
Col27a1 T C 4: 63,331,427 probably benign Het
Cyp2j5 A G 4: 96,659,507 L166P probably damaging Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Dchs1 G A 7: 105,755,658 T2559I probably damaging Het
Dnah12 C A 14: 26,850,926 S258* probably null Het
Dpep1 A T 8: 123,200,438 T309S probably benign Het
Epha5 A T 5: 84,150,358 F559L probably damaging Het
Gm3409 T C 5: 146,537,761 I29T possibly damaging Het
Grhl1 CAGAAGAAG CAGAAG 12: 24,612,179 probably benign Het
Gtf3c1 G T 7: 125,668,037 R941S probably damaging Het
Helb C T 10: 120,105,743 E347K probably benign Het
Ighv14-3 A G 12: 114,060,090 S36P probably damaging Het
Klrb1c T A 6: 128,783,707 M211L probably benign Het
Larp7 C T 3: 127,540,811 E510K probably damaging Het
Lrig1 C T 6: 94,628,044 R190Q possibly damaging Het
March6 A G 15: 31,461,994 S863P possibly damaging Het
Mgst2 A G 3: 51,682,537 N132S probably benign Het
Nlgn2 C T 11: 69,825,390 R775H probably damaging Het
Olfr1138 A T 2: 87,737,405 S306R probably benign Het
Olfr135 A C 17: 38,208,317 E24A possibly damaging Het
Olfr804 T C 10: 129,705,508 V210A probably benign Het
Papln A T 12: 83,771,882 probably null Het
Poteg C T 8: 27,481,643 S395L possibly damaging Het
Prox1 T A 1: 190,147,053 I643F possibly damaging Het
Sept4 A G 11: 87,589,245 E211G probably damaging Het
Serpinb6e A G 13: 33,832,485 F422L probably damaging Het
Slc22a19 A G 19: 7,711,138 L19P probably damaging Het
Snf8 G T 11: 96,043,460 A136S probably benign Het
Sparcl1 C T 5: 104,085,763 M573I probably damaging Het
Spta1 A G 1: 174,247,434 T2409A probably damaging Het
Tep1 A T 14: 50,837,398 C1785* probably null Het
Tmem132b A G 5: 125,622,925 S176G probably damaging Het
Tnfrsf8 T C 4: 145,303,105 R42G possibly damaging Het
Trio T C 15: 27,754,029 D2124G possibly damaging Het
Trp53bp1 A T 2: 121,216,117 D1067E probably benign Het
Tspan13 T C 12: 36,024,066 S24G probably damaging Het
Zdbf2 T C 1: 63,304,903 S814P possibly damaging Het
Zfp213 C A 17: 23,561,399 R49L probably damaging Het
Other mutations in Tat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Tat APN 8 109998785 missense probably benign 0.38
IGL02686:Tat APN 8 109996849 missense probably damaging 1.00
IGL03217:Tat APN 8 109995186 missense probably benign
R0494:Tat UTSW 8 109991684 missense probably damaging 1.00
R0581:Tat UTSW 8 109991638 missense possibly damaging 0.96
R1473:Tat UTSW 8 109996918 missense probably damaging 1.00
R1474:Tat UTSW 8 109991563 missense probably benign 0.00
R1749:Tat UTSW 8 109996214 missense probably damaging 0.97
R1791:Tat UTSW 8 109991629 missense probably benign 0.17
R2157:Tat UTSW 8 109997604 missense probably damaging 1.00
R4530:Tat UTSW 8 109996210 missense probably benign 0.05
R5256:Tat UTSW 8 109998334 missense probably benign 0.44
R5873:Tat UTSW 8 109991949 critical splice donor site probably null
R7197:Tat UTSW 8 109996827 missense probably benign 0.09
R7397:Tat UTSW 8 109997568 missense probably damaging 1.00
R7742:Tat UTSW 8 109991610 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CACCTGCCTCCAATTTCAAGG -3'
(R):5'- GGGCTATTGTTCCTAATTCTGC -3'

Sequencing Primer
(F):5'- GTGCAGAGAAGTTACATCATCTGCC -3'
(R):5'- GCTATTGTTCCTAATTCTGCTGATG -3'
Posted On2016-06-21