Incidental Mutation 'R3958:Glyat'
ID |
310822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glyat
|
Ensembl Gene |
ENSMUSG00000063683 |
Gene Name |
glycine-N-acyltransferase |
Synonyms |
A330009E03Rik |
MMRRC Submission |
040834-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3958 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
12610672-12629101 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12617197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 16
(K16N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044976]
[ENSMUST00000119960]
|
AlphaFold |
Q91XE0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044976
AA Change: K16N
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000043308 Gene: ENSMUSG00000063683 AA Change: K16N
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
|
Meta Mutation Damage Score |
0.1704 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (37/37) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
Nepn |
T |
C |
10: 52,276,804 (GRCm39) |
V119A |
probably benign |
Het |
Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
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 |
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 |
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'- GTGATCCCTGAAAGTCTTGTGC -3'
(R):5'- GCATATTCACATACTTCAGTCACAC -3'
Sequencing Primer
(F):5'- CTTCCTTGGAGCTGGTAAGAATG -3'
(R):5'- TACTTCAGTCACACCACACCTG -3'
|
Posted On |
2015-04-29 |