Incidental Mutation 'R5550:Gcat'
| ID |
435097 |
| 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 |
| MMRRC Submission |
043107-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.271)
|
| Stock # |
R5550 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
78915074-78926731 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78926411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 94
(V94M)
|
| 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 |
probably benign
Transcript: ENSMUST00000058004
AA Change: V94M
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000060517
Gene: ENSMUSG00000114755
AA Change: V94M
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
| Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
| Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
| Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
| Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
| Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
| H2bc27 |
A |
G |
11: 58,840,146 (GRCm39) |
*127W |
probably null |
Het |
| Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
| Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
| Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
| Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly damaging |
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 |
|
R3905:Gcat
|
UTSW |
15 |
78,927,531 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- CATCTTCCTGTTGGGCATGG -3'
(R):5'- AAATGCCCTCTGGAAGTCC -3'
Sequencing Primer
(F):5'- GCATGGTGGGTAATGGGC -3'
(R):5'- CCTCTGGAAGTCCACACTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation