Incidental Mutation 'R2416:Glyat'
| ID |
249019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glyat
|
| Ensembl Gene |
ENSMUSG00000063683 |
| Gene Name |
glycine-N-acyltransferase |
| Synonyms |
A330009E03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12610672-12629101 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12628618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 138
(S138T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044976]
[ENSMUST00000119960]
|
| AlphaFold |
Q91XE0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044976
AA Change: S172T
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
AA Change: S172T
| 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 |
possibly damaging
Transcript: ENSMUST00000119960
AA Change: S138T
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
AA Change: S138T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
| Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably damaging |
Het |
|
| Other mutations in Glyat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00478:Glyat
|
APN |
19 |
12,625,497 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAACACTGGCCTTTCTGTC -3'
(R):5'- TCTGGTCTTGTGAATGGACAAC -3'
Sequencing Primer
(F):5'- GTCCCTCTAGCATAAGCCTATC -3'
(R):5'- AAGACCTTGGAGCCGGTACTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation