Incidental Mutation 'R4126:Glyat'
| ID |
315419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glyat
|
| Ensembl Gene |
ENSMUSG00000063683 |
| Gene Name |
glycine-N-acyltransferase |
| Synonyms |
A330009E03Rik |
| MMRRC Submission |
041634-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4126 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12610672-12629101 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12628843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 213
(V213F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044976]
[ENSMUST00000119960]
|
| AlphaFold |
Q91XE0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044976
AA Change: V247F
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
AA Change: V247F
| 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
AA Change: V213F
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
AA Change: V213F
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
89% (33/37) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,984,703 (GRCm39) |
W249R |
probably benign |
Het |
| Ank |
G |
A |
15: 27,590,459 (GRCm39) |
V348I |
probably benign |
Het |
| Atad3a |
A |
T |
4: 155,838,518 (GRCm39) |
|
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,210,815 (GRCm39) |
C108R |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,309,413 (GRCm39) |
A1614D |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,777,912 (GRCm39) |
D2641G |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,525,355 (GRCm39) |
I206V |
probably damaging |
Het |
| Gpatch1 |
C |
T |
7: 34,993,079 (GRCm39) |
|
probably null |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,047,426 (GRCm39) |
Y109H |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,084,674 (GRCm39) |
S548N |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,258,766 (GRCm39) |
Y503C |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,568 (GRCm39) |
I276N |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,005,005 (GRCm39) |
K685N |
possibly damaging |
Het |
| Prr14l |
G |
T |
5: 32,985,347 (GRCm39) |
H1383N |
probably damaging |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Slc6a20a |
G |
T |
9: 123,489,598 (GRCm39) |
F148L |
probably damaging |
Het |
| Spag11b |
T |
C |
8: 19,191,395 (GRCm39) |
S23P |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Taf11 |
T |
C |
17: 28,120,746 (GRCm39) |
K175E |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,571,048 (GRCm39) |
R175G |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Usp4 |
T |
C |
9: 108,237,316 (GRCm39) |
V128A |
probably benign |
Het |
| Zfp788 |
T |
C |
7: 41,298,860 (GRCm39) |
F479L |
probably damaging |
Het |
| Zmiz1 |
T |
G |
14: 25,657,354 (GRCm39) |
S877A |
possibly 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 |
|
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 |
|
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'- ATGTTGTCCATGCTGCCTTG -3'
(R):5'- TCAACACCAGCTTCTGTTTGAGTC -3'
Sequencing Primer
(F):5'- CCATGCTGCCTTGGTGAATAAATTC -3'
(R):5'- TGAGTCCAGCTTCACATAGGCATG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation