Incidental Mutation 'IGL01405:Ddost'
| ID |
79779 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddost
|
| Ensembl Gene |
ENSMUSG00000028757 |
| Gene Name |
dolichyl-di-phosphooligosaccharide-protein glycotransferase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01405
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
138032049-138039930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138039014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 378
(D378G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030538
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030536]
[ENSMUST00000030538]
[ENSMUST00000105816]
[ENSMUST00000105817]
|
| AlphaFold |
O54734 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030536
|
| SMART Domains |
Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
110 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
257 |
508 |
2.9e-24 |
PFAM |
|
Pfam:Pkinase_Tyr
|
306 |
506 |
4e-15 |
PFAM |
|
low complexity region
|
558 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030538
AA Change: D378G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030538
Gene: ENSMUSG00000028757
AA Change: D378G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:DDOST_48kD
|
32 |
441 |
4.5e-155 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105816
|
| SMART Domains |
Protein: ENSMUSP00000101442
Gene: ENSMUSG00000028756
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
1 |
94 |
4.6e-6 |
PFAM |
|
Pfam:Pkinase
|
1 |
96 |
8.4e-9 |
PFAM |
|
low complexity region
|
146 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105817
|
| SMART Domains |
Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
80 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
231 |
478 |
7.9e-29 |
PFAM |
|
Pfam:Pkinase_Tyr
|
276 |
476 |
1.2e-15 |
PFAM |
|
low complexity region
|
528 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183998
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
G |
A |
17: 36,274,902 (GRCm39) |
R82W |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,100,105 (GRCm38) |
V597A |
probably benign |
Het |
| Bsg |
T |
A |
10: 79,547,348 (GRCm39) |
M205K |
probably benign |
Het |
| Ccdc18 |
T |
C |
5: 108,350,052 (GRCm39) |
|
probably benign |
Het |
| Cdh1 |
T |
C |
8: 107,375,633 (GRCm39) |
V57A |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,095,033 (GRCm39) |
E779G |
possibly damaging |
Het |
| Elp5 |
T |
C |
11: 69,859,962 (GRCm39) |
R250G |
probably damaging |
Het |
| Gnb1 |
A |
G |
4: 155,627,645 (GRCm39) |
H142R |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,419,196 (GRCm39) |
Y1148* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,859 (GRCm39) |
N153S |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
T |
A |
7: 80,010,682 (GRCm39) |
M770L |
probably benign |
Het |
| Msh2 |
T |
C |
17: 87,985,663 (GRCm39) |
L80P |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,453 (GRCm39) |
S928T |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,501 (GRCm39) |
S223T |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,097,304 (GRCm39) |
N765S |
probably benign |
Het |
| Plcb4 |
C |
T |
2: 135,792,267 (GRCm39) |
T330I |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,574,482 (GRCm39) |
I127V |
probably benign |
Het |
| Rapgef5 |
C |
A |
12: 117,685,115 (GRCm39) |
T320K |
probably benign |
Het |
| Rbfa |
A |
G |
18: 80,236,080 (GRCm39) |
V223A |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,517,626 (GRCm39) |
M187V |
probably benign |
Het |
| Ric1 |
T |
C |
19: 29,544,770 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
C |
T |
10: 40,461,191 (GRCm39) |
T331M |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,559,941 (GRCm39) |
S303P |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,105,542 (GRCm39) |
V513A |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,178,280 (GRCm39) |
I370N |
probably damaging |
Het |
| Zfp358 |
G |
A |
8: 3,545,663 (GRCm39) |
D109N |
probably benign |
Het |
| Zfp523 |
T |
C |
17: 28,423,480 (GRCm39) |
S152P |
probably damaging |
Het |
| Zfp961 |
A |
G |
8: 72,721,778 (GRCm39) |
N78S |
possibly damaging |
Het |
|
| Other mutations in Ddost |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01636:Ddost
|
APN |
4 |
138,036,707 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0211:Ddost
|
UTSW |
4 |
138,036,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Ddost
|
UTSW |
4 |
138,036,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Ddost
|
UTSW |
4 |
138,037,922 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0411:Ddost
|
UTSW |
4 |
138,036,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0452:Ddost
|
UTSW |
4 |
138,037,499 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0521:Ddost
|
UTSW |
4 |
138,038,046 (GRCm39) |
missense |
probably benign |
|
|
R5336:Ddost
|
UTSW |
4 |
138,036,741 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9529:Ddost
|
UTSW |
4 |
138,038,780 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9582:Ddost
|
UTSW |
4 |
138,035,583 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0011:Ddost
|
UTSW |
4 |
138,036,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation