Incidental Mutation 'R4530:Tat'
| ID |
333082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tat
|
| Ensembl Gene |
ENSMUSG00000001670 |
| Gene Name |
tyrosine aminotransferase |
| Synonyms |
|
| MMRRC Submission |
041770-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R4530 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110717069-110726435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110722842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 301
(F301L)
|
| 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: F301L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: F301L
| 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 |
|
| Meta Mutation Damage Score |
0.1301 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
93% (37/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
C |
14: 56,016,485 (GRCm39) |
D322G |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,011,433 (GRCm39) |
D451G |
probably damaging |
Het |
| Arhgef7 |
T |
C |
8: 11,850,802 (GRCm39) |
M144T |
possibly damaging |
Het |
| Arid4b |
C |
A |
13: 14,301,040 (GRCm39) |
T41N |
probably damaging |
Het |
| Axin1 |
T |
A |
17: 26,407,146 (GRCm39) |
Y580N |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,419,252 (GRCm39) |
N227D |
possibly damaging |
Het |
| Cetn4 |
C |
T |
3: 37,364,094 (GRCm39) |
V39I |
probably benign |
Het |
| Clec2h |
A |
G |
6: 128,639,457 (GRCm39) |
D18G |
possibly damaging |
Het |
| Clec4e |
T |
C |
6: 123,266,733 (GRCm39) |
|
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,584,842 (GRCm39) |
I1093T |
probably benign |
Het |
| Dner |
G |
T |
1: 84,560,736 (GRCm39) |
N136K |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,373,811 (GRCm39) |
S249G |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,330,518 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
G |
3: 40,637,794 (GRCm39) |
C427G |
possibly damaging |
Het |
| Kif21a |
A |
C |
15: 90,852,292 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Mroh7 |
T |
C |
4: 106,577,634 (GRCm39) |
E348G |
possibly damaging |
Het |
| Or10g6 |
G |
A |
9: 39,934,589 (GRCm39) |
R300K |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,498 (GRCm39) |
V122M |
possibly damaging |
Het |
| Or8g2b |
G |
T |
9: 39,751,379 (GRCm39) |
M216I |
probably benign |
Het |
| Or8k38 |
T |
C |
2: 86,487,905 (GRCm39) |
D299G |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Plbd1 |
T |
A |
6: 136,628,823 (GRCm39) |
I82F |
probably benign |
Het |
| Prss43 |
A |
T |
9: 110,658,572 (GRCm39) |
M291L |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,663,186 (GRCm39) |
N338D |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Stip1 |
G |
T |
19: 7,013,026 (GRCm39) |
N19K |
probably benign |
Het |
| Tmprss11a |
C |
A |
5: 86,576,540 (GRCm39) |
V104L |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,852,147 (GRCm39) |
F938I |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,241,164 (GRCm39) |
|
probably benign |
Het |
| Xndc1 |
C |
A |
7: 101,727,942 (GRCm39) |
N85K |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,867,567 (GRCm39) |
P248S |
probably benign |
Het |
| Zfp930 |
C |
T |
8: 69,681,483 (GRCm39) |
Q393* |
probably null |
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 |
|
IGL03217:Tat
|
APN |
8 |
110,721,818 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAAGCATCCCAGGACATCTC -3'
(R):5'- CCTTGAAATTGGAGGCAGGTG -3'
Sequencing Primer
(F):5'- AGGACATCTCTCTTCCTCAGGTG -3'
(R):5'- GGTGGAACCTCTTCACAGAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation