Incidental Mutation 'R5825:Mogs'
| ID |
450124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mogs
|
| Ensembl Gene |
ENSMUSG00000030036 |
| Gene Name |
mannosyl-oligosaccharide glucosidase |
| Synonyms |
1810017N02Rik, Gcs1 |
| MMRRC Submission |
044053-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5825 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83092477-83095879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83095193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 670
(V670A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032109]
[ENSMUST00000032111]
[ENSMUST00000032114]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000151393]
[ENSMUST00000205023]
[ENSMUST00000143814]
[ENSMUST00000146328]
|
| AlphaFold |
Q80UM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032109
|
| SMART Domains |
Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
|
Pfam:PAPA-1
|
198 |
282 |
1.6e-27 |
PFAM |
|
Pfam:zf-HIT
|
294 |
325 |
6.1e-10 |
PFAM |
|
low complexity region
|
330 |
343 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032111
|
| SMART Domains |
Protein: ENSMUSP00000032111
Gene: ENSMUSG00000030035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
71 |
177 |
1.4e-50 |
PFAM |
|
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032114
AA Change: V670A
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036
AA Change: V670A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
Pfam:Glyco_hydro_63N
|
91 |
267 |
1.1e-54 |
PFAM |
|
Pfam:Glyco_hydro_63
|
349 |
832 |
7e-202 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113935
|
| SMART Domains |
Protein: ENSMUSP00000109568
Gene: ENSMUSG00000030034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
Pfam:PAPA-1
|
228 |
309 |
4e-23 |
PFAM |
|
Pfam:zf-HIT
|
324 |
355 |
4.3e-11 |
PFAM |
|
low complexity region
|
360 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113936
|
| SMART Domains |
Protein: ENSMUSP00000109569
Gene: ENSMUSG00000030035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
36 |
142 |
1.2e-50 |
PFAM |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131936
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151393
|
| SMART Domains |
Protein: ENSMUSP00000145130
Gene: ENSMUSG00000030035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
16 |
31 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
71 |
96 |
4.4e-6 |
PFAM |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
189 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131939
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203069
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146328
|
| SMART Domains |
Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
Pfam:WBP-1
|
70 |
176 |
1.8e-50 |
PFAM |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 95.3%
- 20x: 83.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,976 (GRCm39) |
Y217* |
probably null |
Het |
| Abca2 |
A |
T |
2: 25,326,748 (GRCm39) |
I567F |
probably benign |
Het |
| Acss2 |
T |
A |
2: 155,391,098 (GRCm39) |
|
probably null |
Het |
| Atxn7l2 |
C |
A |
3: 108,112,127 (GRCm39) |
A320S |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,379 (GRCm39) |
G400D |
probably benign |
Het |
| Ces5a |
G |
T |
8: 94,252,295 (GRCm39) |
A199D |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,702,336 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
T |
7: 73,134,350 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
G |
16: 3,905,606 (GRCm39) |
V1705A |
probably damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,451 (GRCm39) |
Q58L |
probably benign |
Het |
| Dlec1 |
T |
A |
9: 118,972,036 (GRCm39) |
I1379N |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 66,017,427 (GRCm39) |
H593R |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,495,673 (GRCm39) |
C412S |
probably benign |
Het |
| Fam110a |
A |
G |
2: 151,811,961 (GRCm39) |
S270P |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,130,643 (GRCm39) |
T1412A |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,874,449 (GRCm39) |
E2015G |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,469,870 (GRCm39) |
V39A |
probably damaging |
Het |
| Igf2 |
G |
T |
7: 142,207,592 (GRCm39) |
H168Q |
probably damaging |
Het |
| Il18rap |
A |
G |
1: 40,570,726 (GRCm39) |
T223A |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,896 (GRCm39) |
V886E |
probably benign |
Het |
| Klra1 |
T |
C |
6: 130,357,592 (GRCm39) |
R12G |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,368,613 (GRCm39) |
I1248V |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk7 |
C |
T |
11: 61,381,207 (GRCm39) |
R465Q |
possibly damaging |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Ninl |
A |
T |
2: 150,782,644 (GRCm39) |
I1182N |
probably damaging |
Het |
| Nup160 |
A |
G |
2: 90,510,114 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,683 (GRCm39) |
R451G |
probably benign |
Het |
| Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,024 (GRCm39) |
I140V |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,948,085 (GRCm39) |
T131A |
probably damaging |
Het |
| Pcdhga12 |
A |
C |
18: 37,901,556 (GRCm39) |
D796A |
possibly damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,895,289 (GRCm39) |
V120I |
probably benign |
Het |
| Pdgfb |
A |
T |
15: 79,881,869 (GRCm39) |
V213E |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,583,460 (GRCm39) |
M1013V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,020 (GRCm39) |
S292G |
probably benign |
Het |
| Prrt4 |
A |
G |
6: 29,177,182 (GRCm39) |
S196P |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,661,136 (GRCm39) |
M463V |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,646,392 (GRCm39) |
S58R |
probably damaging |
Het |
| Traf3 |
C |
A |
12: 111,221,795 (GRCm39) |
Q319K |
probably benign |
Het |
| Trappc8 |
C |
T |
18: 21,006,977 (GRCm39) |
V194M |
probably damaging |
Het |
| Tyw1 |
A |
G |
5: 130,296,929 (GRCm39) |
K182R |
probably damaging |
Het |
| Usp48 |
A |
G |
4: 137,350,689 (GRCm39) |
T585A |
probably benign |
Het |
| Xkr6 |
G |
T |
14: 64,056,481 (GRCm39) |
V387L |
probably benign |
Het |
| Yod1 |
T |
C |
1: 130,646,743 (GRCm39) |
W207R |
probably damaging |
Het |
| Zdhhc8 |
T |
C |
16: 18,046,538 (GRCm39) |
S63G |
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,905,645 (GRCm39) |
E874G |
probably damaging |
Het |
| Zfy1 |
T |
A |
Y: 726,531 (GRCm39) |
K411N |
possibly damaging |
Het |
|
| Other mutations in Mogs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Mogs
|
APN |
6 |
83,095,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Mogs
|
APN |
6 |
83,095,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02673:Mogs
|
APN |
6 |
83,095,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02862:Mogs
|
APN |
6 |
83,092,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02984:Mogs
|
UTSW |
6 |
83,094,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1547:Mogs
|
UTSW |
6 |
83,093,006 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1765:Mogs
|
UTSW |
6 |
83,093,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2013:Mogs
|
UTSW |
6 |
83,094,631 (GRCm39) |
nonsense |
probably null |
|
|
R2015:Mogs
|
UTSW |
6 |
83,094,631 (GRCm39) |
nonsense |
probably null |
|
|
R3735:Mogs
|
UTSW |
6 |
83,093,757 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3736:Mogs
|
UTSW |
6 |
83,093,757 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4279:Mogs
|
UTSW |
6 |
83,093,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Mogs
|
UTSW |
6 |
83,095,619 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4586:Mogs
|
UTSW |
6 |
83,095,619 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5783:Mogs
|
UTSW |
6 |
83,095,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Mogs
|
UTSW |
6 |
83,094,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Mogs
|
UTSW |
6 |
83,092,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7157:Mogs
|
UTSW |
6 |
83,095,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7381:Mogs
|
UTSW |
6 |
83,092,613 (GRCm39) |
missense |
unknown |
|
|
R7485:Mogs
|
UTSW |
6 |
83,093,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Mogs
|
UTSW |
6 |
83,092,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7659:Mogs
|
UTSW |
6 |
83,093,806 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8162:Mogs
|
UTSW |
6 |
83,092,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8849:Mogs
|
UTSW |
6 |
83,094,986 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8961:Mogs
|
UTSW |
6 |
83,092,720 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Mogs
|
UTSW |
6 |
83,093,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTGCAGAACAGCTTG -3'
(R):5'- ATCGTGCTCAGTGTTACGC -3'
Sequencing Primer
(F):5'- CTTGGGGAGACTGAAGCTGC -3'
(R):5'- GTGTTACGCTGTTTATAAAAGAGGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation