Incidental Mutation 'R6914:Gpt'
| ID |
539252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpt
|
| Ensembl Gene |
ENSMUSG00000022546 |
| Gene Name |
glutamic pyruvic transaminase, soluble |
| Synonyms |
Gpt-1, 1300007J06Rik, Gpt1, ALT, 2310022B03Rik |
| MMRRC Submission |
045035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6914 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76580926-76583875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76581792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 138
(Q138K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019224]
[ENSMUST00000023203]
[ENSMUST00000037551]
[ENSMUST00000135388]
[ENSMUST00000150399]
[ENSMUST00000229140]
[ENSMUST00000229679]
[ENSMUST00000229734]
[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
AA Change: Q138K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023203
Gene: ENSMUSG00000022546
AA Change: Q138K
| 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 |
probably benign
Transcript: ENSMUST00000135388
|
| 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 |
probably benign
Transcript: ENSMUST00000156920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229679
AA Change: Q138K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229734
AA Change: Q138K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231028
AA Change: Q138K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
A |
12: 17,061,298 (GRCm39) |
K17* |
probably null |
Het |
| Abca6 |
T |
C |
11: 110,081,064 (GRCm39) |
I1183V |
probably benign |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cblb |
G |
A |
16: 51,867,793 (GRCm39) |
E134K |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,809,929 (GRCm39) |
V193A |
probably benign |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,004,854 (GRCm39) |
Q405L |
unknown |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,874,534 (GRCm39) |
R687S |
possibly damaging |
Het |
| Derl3 |
A |
G |
10: 75,730,050 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
| Dnai1 |
T |
G |
4: 41,625,176 (GRCm39) |
M380R |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Greb1 |
T |
A |
12: 16,757,903 (GRCm39) |
E748V |
probably damaging |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Hecw1 |
A |
C |
13: 14,491,423 (GRCm39) |
L523R |
probably damaging |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Mccc2 |
C |
A |
13: 100,126,858 (GRCm39) |
D137Y |
probably damaging |
Het |
| Nup42 |
T |
A |
5: 24,386,082 (GRCm39) |
S205T |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,223,352 (GRCm39) |
M301L |
probably benign |
Het |
| Pfas |
C |
T |
11: 68,883,007 (GRCm39) |
R759Q |
probably benign |
Het |
| Pom121 |
A |
T |
5: 135,407,011 (GRCm39) |
F1175I |
probably damaging |
Het |
| Prom2 |
T |
G |
2: 127,372,295 (GRCm39) |
I723L |
possibly damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc26a2 |
A |
C |
18: 61,332,351 (GRCm39) |
I360S |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tbx20 |
T |
C |
9: 24,636,779 (GRCm39) |
H436R |
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,422,190 (GRCm39) |
Y411H |
probably damaging |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,812,879 (GRCm39) |
N1485S |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Vezt |
A |
T |
10: 93,806,313 (GRCm39) |
H699Q |
probably benign |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
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 |
|
|
IGL03027:Gpt
|
APN |
15 |
76,582,289 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCAGAGGATGCCAAGAG -3'
(R):5'- AGCGTTAGTGCAACCAGAG -3'
Sequencing Primer
(F):5'- AACGCATCTTGCAGGCATG -3'
(R):5'- GAGTTGTACACCCCACCCCG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation