Incidental Mutation 'IGL01722:Dpagt1'
| ID |
105132 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpagt1
|
| Ensembl Gene |
ENSMUSG00000032123 |
| Gene Name |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
| Synonyms |
Gnpta, Dpagt2, GPT |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44237316-44245197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44238899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 73
(F73S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054708]
[ENSMUST00000215050]
[ENSMUST00000215248]
|
| AlphaFold |
P42867 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054708
AA Change: F73S
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123
AA Change: F73S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
|
Pfam:Glycos_transf_4
|
100 |
272 |
1.1e-38 |
PFAM |
|
transmembrane domain
|
277 |
299 |
N/A |
INTRINSIC |
|
transmembrane domain
|
381 |
403 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213461
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215050
|
| Predicted Effect |
silent
Transcript: ENSMUST00000215248
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217225
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display an embryonic lethal phenotype due to widespread cell death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
A |
2: 58,173,561 (GRCm39) |
|
probably benign |
Het |
| Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
| Ankrd9 |
A |
G |
12: 110,943,797 (GRCm39) |
V46A |
probably damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,598 (GRCm39) |
N97D |
possibly damaging |
Het |
| Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
| Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
| Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,684,431 (GRCm39) |
T192A |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
| Mta3 |
T |
C |
17: 84,063,072 (GRCm39) |
Y4H |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
| Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
| Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
| Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
| Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
| Svs5 |
T |
C |
2: 164,079,446 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
| Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
| Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
| Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
Het |
|
| Other mutations in Dpagt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00975:Dpagt1
|
APN |
9 |
44,243,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02066:Dpagt1
|
APN |
9 |
44,243,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Dpagt1
|
UTSW |
9 |
44,239,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5585:Dpagt1
|
UTSW |
9 |
44,240,439 (GRCm39) |
splice site |
probably null |
|
|
R6481:Dpagt1
|
UTSW |
9 |
44,242,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Dpagt1
|
UTSW |
9 |
44,238,318 (GRCm39) |
intron |
probably benign |
|
|
R7390:Dpagt1
|
UTSW |
9 |
44,243,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7431:Dpagt1
|
UTSW |
9 |
44,237,384 (GRCm39) |
nonsense |
probably null |
|
|
R8415:Dpagt1
|
UTSW |
9 |
44,238,482 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8477:Dpagt1
|
UTSW |
9 |
44,243,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8975:Dpagt1
|
UTSW |
9 |
44,237,446 (GRCm39) |
unclassified |
probably benign |
|
|
RF022:Dpagt1
|
UTSW |
9 |
44,243,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Dpagt1
|
UTSW |
9 |
44,240,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation