Incidental Mutation 'R5336:Ddost'
| ID |
423513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddost
|
| Ensembl Gene |
ENSMUSG00000028757 |
| Gene Name |
dolichyl-di-phosphooligosaccharide-protein glycotransferase |
| Synonyms |
|
| MMRRC Submission |
042844-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5336 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
138032049-138039930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138036741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 147
(Y147H)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000030538
AA Change: Y147H
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030538
Gene: ENSMUSG00000028757
AA Change: Y147H
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,495 (GRCm39) |
E289D |
probably damaging |
Het |
| Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
| Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
| Chpf |
C |
A |
1: 75,452,351 (GRCm39) |
A368S |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
| Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,618,002 (GRCm39) |
|
probably null |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
| Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,859 (GRCm39) |
F177L |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
| Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,487 (GRCm39) |
Y377H |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,084 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
| Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
Het |
|
| Other mutations in Ddost |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01405:Ddost
|
APN |
4 |
138,039,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTAGCTCCACTACTCATCCAAGC -3'
(R):5'- AATGAGTGTGTGCTGCGAAG -3'
Sequencing Primer
(F):5'- CAAGCCCTGGAAGTGGTG -3'
(R):5'- TGTGCTGCGAAGGGGAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation