Incidental Mutation 'IGL01658:Tha1'
| ID |
103088 |
| 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 # |
IGL01658
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
117758778-117764307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117762438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 102
(L102P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033230
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033230]
|
| AlphaFold |
Q6XPS7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033230
AA Change: L102P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033230
Gene: ENSMUSG00000017713
AA Change: L102P
| 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 |
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Blm |
A |
G |
7: 80,113,689 (GRCm39) |
S1203P |
probably damaging |
Het |
| Cdc25a |
C |
A |
9: 109,705,194 (GRCm39) |
|
probably null |
Het |
| Cstf1 |
T |
A |
2: 172,214,993 (GRCm39) |
I38N |
probably benign |
Het |
| Fam168a |
C |
A |
7: 100,462,180 (GRCm39) |
P42T |
possibly damaging |
Het |
| Fstl5 |
A |
G |
3: 76,389,562 (GRCm39) |
Q253R |
possibly damaging |
Het |
| Gpr26 |
C |
T |
7: 131,585,834 (GRCm39) |
T268I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,809,200 (GRCm39) |
Y2567N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,292,237 (GRCm39) |
T4035I |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,023,278 (GRCm39) |
R523Q |
possibly damaging |
Het |
| Mad2l1 |
T |
A |
6: 66,514,586 (GRCm39) |
V85E |
possibly damaging |
Het |
| Mical2 |
T |
C |
7: 111,914,205 (GRCm39) |
Y292H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,127,880 (GRCm39) |
S239P |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,893,222 (GRCm39) |
|
probably benign |
Het |
| Nthl1 |
A |
G |
17: 24,853,819 (GRCm39) |
T155A |
probably benign |
Het |
| Or2a14 |
T |
A |
6: 43,130,784 (GRCm39) |
S182T |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,424 (GRCm39) |
E327A |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Satb1 |
C |
A |
17: 52,082,279 (GRCm39) |
M458I |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,625,290 (GRCm39) |
S146P |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,977,477 (GRCm39) |
S750P |
probably damaging |
Het |
| Trf |
A |
G |
9: 103,104,055 (GRCm39) |
F103L |
probably benign |
Het |
| Trim2 |
T |
C |
3: 84,117,592 (GRCm39) |
I8V |
probably benign |
Het |
| Usf1 |
C |
T |
1: 171,244,867 (GRCm39) |
S177L |
possibly damaging |
Het |
| Usp12 |
T |
C |
5: 146,688,739 (GRCm39) |
D205G |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,671,479 (GRCm39) |
T1661A |
probably damaging |
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 |
|
|
IGL01434:Tha1
|
APN |
11 |
117,759,425 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
2014-01-21 |
Incidental Mutation