Incidental Mutation 'IGL03217:Tat'
| ID |
413501 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tat
|
| Ensembl Gene |
ENSMUSG00000001670 |
| Gene Name |
tyrosine aminotransferase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
IGL03217
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110717069-110726435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 110721818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8QZR1 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,258,430 (GRCm39) |
I29T |
probably damaging |
Het |
| Adam2 |
G |
A |
14: 66,272,262 (GRCm39) |
P640L |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cd300lf |
T |
A |
11: 115,015,117 (GRCm39) |
T151S |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,945,778 (GRCm39) |
T219A |
probably benign |
Het |
| Eml1 |
G |
T |
12: 108,501,201 (GRCm39) |
E680D |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,035 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,619,418 (GRCm39) |
I1232N |
possibly damaging |
Het |
| Maml2 |
T |
C |
9: 13,531,295 (GRCm39) |
S170P |
probably damaging |
Het |
| Mettl16 |
T |
A |
11: 74,708,529 (GRCm39) |
M536K |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nxf2 |
T |
C |
X: 133,856,281 (GRCm39) |
I287V |
probably benign |
Het |
| Nyap2 |
A |
G |
1: 81,065,039 (GRCm39) |
D17G |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,567,432 (GRCm39) |
C270R |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,955 (GRCm39) |
D750G |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,875 (GRCm39) |
E490K |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,428,172 (GRCm39) |
G519D |
possibly damaging |
Het |
| Sox5 |
A |
G |
6: 143,853,223 (GRCm39) |
S352P |
probably damaging |
Het |
| Spart |
G |
T |
3: 55,035,912 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,737,947 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp442 |
A |
G |
2: 150,251,714 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Tat
|
APN |
8 |
110,725,417 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02686:Tat
|
APN |
8 |
110,723,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Tat
|
UTSW |
8 |
110,718,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0581:Tat
|
UTSW |
8 |
110,718,270 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1473:Tat
|
UTSW |
8 |
110,723,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Tat
|
UTSW |
8 |
110,718,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1749:Tat
|
UTSW |
8 |
110,722,846 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1791:Tat
|
UTSW |
8 |
110,718,261 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2157:Tat
|
UTSW |
8 |
110,724,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4530:Tat
|
UTSW |
8 |
110,722,842 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5149:Tat
|
UTSW |
8 |
110,723,450 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5256:Tat
|
UTSW |
8 |
110,724,966 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5873:Tat
|
UTSW |
8 |
110,718,581 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7197:Tat
|
UTSW |
8 |
110,723,459 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7397:Tat
|
UTSW |
8 |
110,724,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7742:Tat
|
UTSW |
8 |
110,718,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8950:Tat
|
UTSW |
8 |
110,718,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Tat
|
UTSW |
8 |
110,722,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9302:Tat
|
UTSW |
8 |
110,725,031 (GRCm39) |
unclassified |
probably benign |
|
|
R9329:Tat
|
UTSW |
8 |
110,723,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9436:Tat
|
UTSW |
8 |
110,718,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9441:Tat
|
UTSW |
8 |
110,720,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Tat
|
UTSW |
8 |
110,722,711 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation