Incidental Mutation 'IGL01431:Got1'
| ID |
84121 |
| 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 # |
IGL01431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
43488191-43513044 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 43491488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 321
(K321*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026196]
|
| AlphaFold |
P05201 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026196
AA Change: K321*
|
| SMART Domains |
Protein: ENSMUSP00000026196
Gene: ENSMUSG00000025190
AA Change: K321*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
31 |
405 |
1.4e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133325
|
| SMART Domains |
Protein: ENSMUSP00000117986
Gene: ENSMUSG00000025190
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
1 |
181 |
7.2e-39 |
PFAM |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,089,838 (GRCm39) |
I897T |
possibly damaging |
Het |
| Aqp2 |
G |
A |
15: 99,477,301 (GRCm39) |
V90M |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,680,571 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,274,301 (GRCm39) |
Y607H |
probably damaging |
Het |
| Cer1 |
T |
A |
4: 82,801,068 (GRCm39) |
E198D |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,453,278 (GRCm39) |
|
probably null |
Het |
| Ecel1 |
C |
T |
1: 87,079,226 (GRCm39) |
R484H |
probably damaging |
Het |
| Entpd7 |
C |
A |
19: 43,718,278 (GRCm39) |
H575Q |
probably benign |
Het |
| F11r |
T |
C |
1: 171,290,477 (GRCm39) |
V279A |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,759,122 (GRCm39) |
|
probably benign |
Het |
| Gpn1 |
T |
C |
5: 31,664,882 (GRCm39) |
V302A |
probably benign |
Het |
| Hivep1 |
G |
T |
13: 42,311,493 (GRCm39) |
K1244N |
probably damaging |
Het |
| Idh3b |
T |
C |
2: 130,123,817 (GRCm39) |
T116A |
possibly damaging |
Het |
| Itgb4 |
C |
A |
11: 115,897,283 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,742,872 (GRCm39) |
L579I |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,263,782 (GRCm39) |
T1694S |
probably null |
Het |
| Mylk3 |
T |
C |
8: 86,063,030 (GRCm39) |
D537G |
probably damaging |
Het |
| Myo1d |
A |
C |
11: 80,565,665 (GRCm39) |
F387V |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,361,361 (GRCm39) |
Y448C |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,508 (GRCm39) |
H191Q |
probably benign |
Het |
| Paxbp1 |
T |
C |
16: 90,832,804 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
A |
T |
2: 111,055,740 (GRCm39) |
|
probably benign |
Het |
| Retreg2 |
T |
A |
1: 75,121,749 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
G |
A |
16: 94,129,402 (GRCm39) |
C16Y |
possibly damaging |
Het |
| Robo3 |
G |
A |
9: 37,330,407 (GRCm39) |
|
probably benign |
Het |
| Rrm1 |
C |
A |
7: 102,106,759 (GRCm39) |
|
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,498,666 (GRCm39) |
R269S |
probably benign |
Het |
| Sbp |
A |
T |
17: 24,164,322 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,525,110 (GRCm39) |
Q162L |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,980,144 (GRCm39) |
Y67C |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,309,103 (GRCm39) |
R233K |
probably damaging |
Het |
| Smoc1 |
C |
A |
12: 81,199,525 (GRCm39) |
S220* |
probably null |
Het |
| Stab1 |
C |
A |
14: 30,870,952 (GRCm39) |
R1299I |
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,805,074 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,151,985 (GRCm39) |
D312A |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,327 (GRCm39) |
S70P |
possibly damaging |
Het |
| Zfc3h1 |
C |
A |
10: 115,259,128 (GRCm39) |
T1591K |
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 |
|
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 |
|
IGL02353:Got1
|
APN |
19 |
43,512,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-11 |
Incidental Mutation