Incidental Mutation 'R2960:Glyat'
ID |
255896 |
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 # |
R2960 (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 12617214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 22
(L22H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044976]
[ENSMUST00000119960]
|
AlphaFold |
Q91XE0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044976
AA Change: L22H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043308 Gene: ENSMUSG00000063683 AA Change: L22H
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: ENSMUST00000155846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157069
|
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 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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
Auh |
A |
T |
13: 52,993,610 (GRCm39) |
I268N |
probably damaging |
Het |
Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
Grb7 |
C |
T |
11: 98,343,087 (GRCm39) |
T268I |
probably damaging |
Het |
Ints15 |
A |
T |
5: 143,293,776 (GRCm39) |
F234I |
probably benign |
Het |
Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
Nup43 |
T |
C |
10: 7,546,713 (GRCm39) |
V111A |
probably benign |
Het |
Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tmx3 |
T |
C |
18: 90,551,116 (GRCm39) |
V252A |
probably damaging |
Het |
Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
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 |
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'- GCTTCCTTGGAGCTGGTAAG -3'
(R):5'- AGTCACACAGCACATGCATG -3'
Sequencing Primer
(F):5'- CCTTGGAGCTGGTAAGAATGTTATAG -3'
(R):5'- TGCATATTCACATACTTCAGTCACAC -3'
|
Posted On |
2014-12-29 |