Incidental Mutation 'IGL03027:Gpt'
| ID |
408257 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpt
|
| Ensembl Gene |
ENSMUSG00000022546 |
| Gene Name |
glutamic pyruvic transaminase, soluble |
| Synonyms |
Gpt-1, 1300007J06Rik, Gpt1, ALT, 2310022B03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76580926-76583875 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 76582289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000023203]
[ENSMUST00000037551]
[ENSMUST00000135388]
[ENSMUST00000229734]
[ENSMUST00000229140]
[ENSMUST00000150399]
[ENSMUST00000229679]
[ENSMUST00000231028]
|
| AlphaFold |
Q8QZR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019224
|
| SMART Domains |
Protein: ENSMUSP00000019224
Gene: ENSMUSG00000019080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
8 |
373 |
3e-16 |
PFAM |
|
transmembrane domain
|
388 |
407 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023203
|
| SMART Domains |
Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
83 |
484 |
7.8e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037551
|
| SMART Domains |
Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
70 |
99 |
2.5e3 |
SMART |
|
ANK
|
103 |
132 |
3.41e-3 |
SMART |
|
ANK
|
136 |
165 |
2.66e-5 |
SMART |
|
ANK
|
231 |
260 |
2.58e-3 |
SMART |
|
ANK
|
264 |
293 |
4.03e-5 |
SMART |
|
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135388
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140730
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229098
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229140
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229018
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150399
|
| SMART Domains |
Protein: ENSMUSP00000123458
Gene: ENSMUSG00000033819
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
70 |
99 |
2.5e3 |
SMART |
|
ANK
|
103 |
132 |
3.41e-3 |
SMART |
|
ANK
|
136 |
165 |
2.66e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230482
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231028
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
PHENOTYPE: Electrophoretic variants are detected in C57BL/6, BALB/c and DBA/2 (a allele); in MA/J and NZB/Bl (b allele). M. m. molossinus and M. m. castaneus have either the b or c allele. In liver, GPT1 activity rises dramatically at 12-19 days to adult levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
A |
T |
17: 43,607,605 (GRCm39) |
Y108F |
probably damaging |
Het |
| Afap1 |
T |
C |
5: 36,119,094 (GRCm39) |
I243T |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,216,025 (GRCm39) |
D320G |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,623,157 (GRCm39) |
I423K |
probably damaging |
Het |
| Casp9 |
A |
G |
4: 141,539,584 (GRCm39) |
E410G |
probably benign |
Het |
| Ccdc39 |
A |
C |
3: 33,884,267 (GRCm39) |
H358Q |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,249,742 (GRCm39) |
|
probably null |
Het |
| Clip1 |
A |
T |
5: 123,759,919 (GRCm39) |
M935K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,548,833 (GRCm39) |
Y2171H |
probably benign |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,996 (GRCm39) |
N417I |
possibly damaging |
Het |
| Dock3 |
G |
A |
9: 106,870,677 (GRCm39) |
P579L |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,866,164 (GRCm39) |
M1209V |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,958,450 (GRCm39) |
T334A |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,225,106 (GRCm39) |
I1171F |
possibly damaging |
Het |
| Eya1 |
G |
T |
1: 14,241,190 (GRCm39) |
H576N |
probably damaging |
Het |
| Fam117a |
A |
G |
11: 95,268,399 (GRCm39) |
T267A |
probably benign |
Het |
| Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
| Gabra6 |
T |
C |
11: 42,205,980 (GRCm39) |
H291R |
probably damaging |
Het |
| Gm7145 |
T |
C |
1: 117,895,417 (GRCm39) |
S27P |
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| Hif1a |
C |
T |
12: 73,987,251 (GRCm39) |
P448L |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,684,290 (GRCm39) |
V427I |
probably benign |
Het |
| Ipo8 |
C |
A |
6: 148,678,737 (GRCm39) |
V954L |
probably benign |
Het |
| Kdm5a |
G |
T |
6: 120,351,951 (GRCm39) |
|
probably null |
Het |
| Klhl36 |
T |
A |
8: 120,603,229 (GRCm39) |
S495T |
probably benign |
Het |
| Lpar5 |
T |
A |
6: 125,059,203 (GRCm39) |
L308Q |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,367,897 (GRCm39) |
D205A |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,063,057 (GRCm39) |
I83T |
probably benign |
Het |
| Mapk8ip2 |
A |
T |
15: 89,342,310 (GRCm39) |
D507V |
probably damaging |
Het |
| Mical1 |
T |
C |
10: 41,355,501 (GRCm39) |
|
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,930,954 (GRCm39) |
H539L |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,221,007 (GRCm39) |
E972G |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,359,524 (GRCm39) |
Y571H |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,538,207 (GRCm39) |
N478I |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,780 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pde2a |
A |
T |
7: 101,130,627 (GRCm39) |
Q89L |
probably benign |
Het |
| Ppard |
C |
A |
17: 28,518,765 (GRCm39) |
T422K |
possibly damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,830 (GRCm39) |
Y904* |
probably null |
Het |
| Ptx4 |
T |
A |
17: 25,344,022 (GRCm39) |
I424K |
possibly damaging |
Het |
| Rab19 |
A |
G |
6: 39,360,927 (GRCm39) |
D25G |
probably damaging |
Het |
| Rbl2 |
T |
A |
8: 91,805,534 (GRCm39) |
I197N |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,997,814 (GRCm39) |
D273G |
probably damaging |
Het |
| Sec16a |
G |
A |
2: 26,313,601 (GRCm39) |
R1920C |
probably benign |
Het |
| Sec23b |
A |
T |
2: 144,429,465 (GRCm39) |
N731I |
possibly damaging |
Het |
| Serpinb9d |
G |
A |
13: 33,386,698 (GRCm39) |
W255* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,910,351 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,920,167 (GRCm39) |
|
probably null |
Het |
| Tmem176b |
C |
T |
6: 48,812,573 (GRCm39) |
A131T |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,348,494 (GRCm39) |
V332D |
probably damaging |
Het |
| Trgc1 |
G |
T |
13: 19,398,563 (GRCm39) |
G97* |
probably null |
Het |
| Tuba3b |
T |
A |
6: 145,565,117 (GRCm39) |
L195Q |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,565 (GRCm39) |
V254D |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,465,734 (GRCm39) |
P239T |
probably damaging |
Het |
| Vars1 |
G |
T |
17: 35,232,663 (GRCm39) |
M862I |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,777 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,188,824 (GRCm39) |
A720V |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,519,820 (GRCm39) |
R314Q |
probably damaging |
Het |
|
| Other mutations in Gpt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Gpt
|
APN |
15 |
76,582,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02061:Gpt
|
APN |
15 |
76,583,617 (GRCm39) |
unclassified |
probably benign |
|
|
R2091:Gpt
|
UTSW |
15 |
76,582,176 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2903:Gpt
|
UTSW |
15 |
76,582,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3835:Gpt
|
UTSW |
15 |
76,582,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Gpt
|
UTSW |
15 |
76,582,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Gpt
|
UTSW |
15 |
76,583,485 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4932:Gpt
|
UTSW |
15 |
76,583,040 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5970:Gpt
|
UTSW |
15 |
76,583,552 (GRCm39) |
splice site |
probably null |
|
|
R6165:Gpt
|
UTSW |
15 |
76,582,170 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6914:Gpt
|
UTSW |
15 |
76,581,792 (GRCm39) |
missense |
probably benign |
|
|
R7204:Gpt
|
UTSW |
15 |
76,583,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7397:Gpt
|
UTSW |
15 |
76,582,717 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7654:Gpt
|
UTSW |
15 |
76,582,530 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7808:Gpt
|
UTSW |
15 |
76,583,093 (GRCm39) |
splice site |
probably null |
|
|
R8057:Gpt
|
UTSW |
15 |
76,580,972 (GRCm39) |
intron |
probably benign |
|
|
R8389:Gpt
|
UTSW |
15 |
76,583,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Gpt
|
UTSW |
15 |
76,581,215 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2016-08-02 |
Incidental Mutation