Incidental Mutation 'IGL01434:Tha1'
| ID |
84287 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tha1
|
| Ensembl Gene |
ENSMUSG00000017713 |
| Gene Name |
threonine aldolase 1 |
| Synonyms |
GLY1, 1300017K07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117758778-117764307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117759425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 355
(T355A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033230]
[ENSMUST00000093905]
|
| AlphaFold |
Q6XPS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033230
AA Change: T355A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033230
Gene: ENSMUSG00000017713
AA Change: T355A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Beta_elim_lyase
|
42 |
334 |
4.6e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093905
|
| SMART Domains |
Protein: ENSMUSP00000091432
Gene: ENSMUSG00000070330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
4 |
190 |
9.7e-14 |
PFAM |
|
Pfam:Claudin_2
|
16 |
192 |
1.3e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153989
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tmem120a |
G |
T |
5: 135,765,864 (GRCm39) |
F127L |
possibly damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Tha1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Tha1
|
APN |
11 |
117,761,831 (GRCm39) |
splice site |
probably benign |
|
|
IGL01658:Tha1
|
APN |
11 |
117,762,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Tha1
|
UTSW |
11 |
117,759,401 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0671:Tha1
|
UTSW |
11 |
117,763,983 (GRCm39) |
splice site |
probably benign |
|
|
R1958:Tha1
|
UTSW |
11 |
117,760,179 (GRCm39) |
unclassified |
probably benign |
|
|
R2127:Tha1
|
UTSW |
11 |
117,760,600 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3416:Tha1
|
UTSW |
11 |
117,764,026 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4825:Tha1
|
UTSW |
11 |
117,760,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5145:Tha1
|
UTSW |
11 |
117,760,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5266:Tha1
|
UTSW |
11 |
117,760,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Tha1
|
UTSW |
11 |
117,760,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Tha1
|
UTSW |
11 |
117,761,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5858:Tha1
|
UTSW |
11 |
117,764,210 (GRCm39) |
missense |
unknown |
|
|
R6820:Tha1
|
UTSW |
11 |
117,762,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Tha1
|
UTSW |
11 |
117,760,516 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7706:Tha1
|
UTSW |
11 |
117,760,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Tha1
|
UTSW |
11 |
117,761,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8094:Tha1
|
UTSW |
11 |
117,759,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8322:Tha1
|
UTSW |
11 |
117,759,493 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9145:Tha1
|
UTSW |
11 |
117,759,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Tha1
|
UTSW |
11 |
117,761,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-11-11 |
Incidental Mutation