Incidental Mutation 'IGL00478:Glyat'
| ID |
10982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glyat
|
| Ensembl Gene |
ENSMUSG00000063683 |
| Gene Name |
glycine-N-acyltransferase |
| Synonyms |
A330009E03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12610672-12629101 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 12625497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044976]
[ENSMUST00000119960]
|
| AlphaFold |
Q91XE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044976
|
| SMART Domains |
Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
206 |
1.9e-90 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
207 |
295 |
2.8e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119960
|
| SMART Domains |
Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gly_acyl_tr_N
|
1 |
172 |
1.2e-91 |
PFAM |
|
Pfam:Gly_acyl_tr_C
|
173 |
261 |
3.6e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157069
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,774,604 (GRCm39) |
T578A |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,639 (GRCm39) |
V2505M |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,440,297 (GRCm39) |
C365* |
probably null |
Het |
| C920021L13Rik |
A |
T |
3: 95,794,797 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,247,888 (GRCm39) |
V905E |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,050,613 (GRCm39) |
V1529A |
probably damaging |
Het |
| Coro2a |
T |
C |
4: 46,540,455 (GRCm39) |
D488G |
probably benign |
Het |
| Dpf1 |
G |
T |
7: 29,015,981 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
A |
3: 82,935,951 (GRCm39) |
D59E |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,057,965 (GRCm39) |
H175Q |
probably benign |
Het |
| Gpr137c |
T |
C |
14: 45,516,202 (GRCm39) |
V312A |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,442,908 (GRCm39) |
S466P |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,141,213 (GRCm39) |
D1078V |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,769,782 (GRCm39) |
D259G |
probably damaging |
Het |
| Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,152,024 (GRCm39) |
T1075S |
possibly damaging |
Het |
| Vash1 |
T |
A |
12: 86,727,042 (GRCm39) |
I94N |
possibly damaging |
Het |
| Zfp770 |
T |
C |
2: 114,027,946 (GRCm39) |
E41G |
probably damaging |
Het |
|
| Other mutations in Glyat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Glyat
|
APN |
19 |
12,628,626 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01288:Glyat
|
APN |
19 |
12,627,719 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02296:Glyat
|
APN |
19 |
12,628,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4458001:Glyat
|
UTSW |
19 |
12,625,373 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0416:Glyat
|
UTSW |
19 |
12,628,817 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1463:Glyat
|
UTSW |
19 |
12,625,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Glyat
|
UTSW |
19 |
12,623,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2416:Glyat
|
UTSW |
19 |
12,628,618 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2504:Glyat
|
UTSW |
19 |
12,628,762 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2960:Glyat
|
UTSW |
19 |
12,617,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Glyat
|
UTSW |
19 |
12,617,197 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4126:Glyat
|
UTSW |
19 |
12,628,843 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4561:Glyat
|
UTSW |
19 |
12,628,644 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4705:Glyat
|
UTSW |
19 |
12,628,661 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5062:Glyat
|
UTSW |
19 |
12,627,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Glyat
|
UTSW |
19 |
12,627,645 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7028:Glyat
|
UTSW |
19 |
12,627,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7044:Glyat
|
UTSW |
19 |
12,627,629 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7599:Glyat
|
UTSW |
19 |
12,617,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9595:Glyat
|
UTSW |
19 |
12,623,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Glyat
|
UTSW |
19 |
12,628,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Glyat
|
UTSW |
19 |
12,625,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation