Incidental Mutation 'IGL03217:Tat'
ID413501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tat
Ensembl Gene ENSMUSG00000001670
Gene Nametyrosine aminotransferase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.182) question?
Stock #IGL03217
Quality Score
Status
Chromosome8
Chromosomal Location109990437-109999803 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 109995186 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 242 (V242I)
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: V242I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: V242I

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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nxf2 T C X: 134,955,532 I287V probably benign Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Zfp442 A G 2: 150,409,794 probably benign 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
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
R5149:Tat UTSW 8 109996818 missense probably benign 0.35
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
Posted On2016-08-02