Incidental Mutation 'R0581:Tat'
| ID |
56428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tat
|
| Ensembl Gene |
ENSMUSG00000001670 |
| Gene Name |
tyrosine aminotransferase |
| Synonyms |
|
| MMRRC Submission |
038771-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.430)
|
| Stock # |
R0581 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110717069-110726435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110718270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 52
(T52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001720]
[ENSMUST00000143741]
|
| AlphaFold |
Q8QZR1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001720
AA Change: T52A
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: T52A
| 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 |
possibly damaging
Transcript: ENSMUST00000143741
AA Change: T52A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119061
Gene: ENSMUSG00000001670
AA Change: T52A
| 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 |
0.1727 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
| Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
| Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,316,862 (GRCm39) |
Y720* |
probably null |
Het |
| Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
| Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
| Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
| Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
| Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
| Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
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 |
|
IGL03217:Tat
|
APN |
8 |
110,721,818 (GRCm39) |
missense |
probably benign |
|
|
R0494:Tat
|
UTSW |
8 |
110,718,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCATCTTAGCCTTACAGGGAC -3'
(R):5'- CATAGCCATTGTACTTCCCGGAGTC -3'
Sequencing Primer
(F):5'- GCCATGGACTCCTACGTAAT -3'
(R):5'- GTCCCCTGTTCACAGAAGAGAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation