Incidental Mutation 'IGL02353:Got1'
| ID |
289554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Got1
|
| Ensembl Gene |
ENSMUSG00000025190 |
| Gene Name |
glutamic-oxaloacetic transaminase 1, soluble |
| Synonyms |
cytosolic aspartate aminotransferase, Got-1, cAspAT |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43488191-43513044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43512882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 5
(S5P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026196]
|
| AlphaFold |
P05201 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026196
AA Change: S5P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: S5P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
31 |
405 |
1.4e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124954
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Ccnl1 |
A |
C |
3: 65,856,141 (GRCm39) |
C255G |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,974,312 (GRCm39) |
R94Q |
probably damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
possibly damaging |
Het |
|
| Other mutations in Got1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Got1
|
APN |
19 |
43,493,048 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01404:Got1
|
APN |
19 |
43,493,048 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01431:Got1
|
APN |
19 |
43,491,488 (GRCm39) |
nonsense |
probably null |
|
|
IGL01476:Got1
|
APN |
19 |
43,512,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01688:Got1
|
APN |
19 |
43,512,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01977:Got1
|
APN |
19 |
43,504,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02360:Got1
|
APN |
19 |
43,512,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02726:Got1
|
APN |
19 |
43,488,851 (GRCm39) |
splice site |
probably null |
|
|
F5770:Got1
|
UTSW |
19 |
43,489,000 (GRCm39) |
unclassified |
probably benign |
|
|
R0128:Got1
|
UTSW |
19 |
43,512,816 (GRCm39) |
missense |
probably benign |
|
|
R0245:Got1
|
UTSW |
19 |
43,492,946 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Got1
|
UTSW |
19 |
43,504,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1116:Got1
|
UTSW |
19 |
43,491,413 (GRCm39) |
nonsense |
probably null |
|
|
R1927:Got1
|
UTSW |
19 |
43,504,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4516:Got1
|
UTSW |
19 |
43,493,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Got1
|
UTSW |
19 |
43,491,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4785:Got1
|
UTSW |
19 |
43,491,376 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5463:Got1
|
UTSW |
19 |
43,493,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6612:Got1
|
UTSW |
19 |
43,493,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Got1
|
UTSW |
19 |
43,491,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Got1
|
UTSW |
19 |
43,493,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9778:Got1
|
UTSW |
19 |
43,504,284 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2015-04-16 |
Incidental Mutation