Incidental Mutation 'R3905:Gcat'
| ID |
474488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gcat
|
| Ensembl Gene |
ENSMUSG00000116378 |
| Gene Name |
glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase) |
| Synonyms |
Kbl, aminoacetone synthase |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.264)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
139 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78915074-78926731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78927531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 324
(L324P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006544]
[ENSMUST00000058004]
[ENSMUST00000171999]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006544
|
| SMART Domains |
Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
63 |
405 |
8.8e-72 |
PFAM |
|
Pfam:Aminotran_5
|
77 |
236 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058004
AA Change: L324P
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000060517
Gene: ENSMUSG00000114755
AA Change: L324P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
24 |
307 |
2.9e-9 |
PFAM |
|
Pfam:7tm_1
|
34 |
291 |
6.1e-47 |
PFAM |
|
low complexity region
|
310 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171999
|
| SMART Domains |
Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_1_2
|
63 |
379 |
2e-64 |
PFAM |
|
Pfam:Aminotran_5
|
77 |
236 |
4.7e-8 |
PFAM |
|
Pfam:Cys_Met_Meta_PP
|
93 |
240 |
2.4e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230803
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cct7 |
A |
T |
6: 85,443,690 (GRCm39) |
I353F |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,166,294 (GRCm39) |
G563R |
possibly damaging |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,076,178 (GRCm39) |
E376G |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Pwwp3a |
T |
C |
10: 80,074,150 (GRCm39) |
V401A |
probably damaging |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
A |
G |
12: 81,014,441 (GRCm39) |
I93T |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,750 (GRCm39) |
R548* |
probably null |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Gcat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01345:Gcat
|
APN |
15 |
78,918,265 (GRCm39) |
splice site |
probably benign |
|
|
IGL03238:Gcat
|
APN |
15 |
78,920,210 (GRCm39) |
splice site |
probably benign |
|
|
G1Funyon:Gcat
|
UTSW |
15 |
78,920,089 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1440:Gcat
|
UTSW |
15 |
78,918,194 (GRCm39) |
missense |
probably null |
1.00 |
|
R1696:Gcat
|
UTSW |
15 |
78,919,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2336:Gcat
|
UTSW |
15 |
78,915,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3418:Gcat
|
UTSW |
15 |
78,926,297 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3890:Gcat
|
UTSW |
15 |
78,921,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Gcat
|
UTSW |
15 |
78,919,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Gcat
|
UTSW |
15 |
78,915,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5121:Gcat
|
UTSW |
15 |
78,919,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5454:Gcat
|
UTSW |
15 |
78,920,610 (GRCm39) |
missense |
probably benign |
|
|
R5550:Gcat
|
UTSW |
15 |
78,926,411 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5664:Gcat
|
UTSW |
15 |
78,927,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6022:Gcat
|
UTSW |
15 |
78,926,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6419:Gcat
|
UTSW |
15 |
78,920,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Gcat
|
UTSW |
15 |
78,919,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7243:Gcat
|
UTSW |
15 |
78,921,063 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7976:Gcat
|
UTSW |
15 |
78,919,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8301:Gcat
|
UTSW |
15 |
78,920,089 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation