Incidental Mutation 'IGL01318:Mogs'
| ID |
73925 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mogs
|
| Ensembl Gene |
ENSMUSG00000030036 |
| Gene Name |
mannosyl-oligosaccharide glucosidase |
| Synonyms |
1810017N02Rik, Gcs1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83092477-83095879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 83095558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 792
(V792F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032109]
[ENSMUST00000032111]
[ENSMUST00000032114]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000205023]
[ENSMUST00000151393]
[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 |
probably damaging
Transcript: ENSMUST00000032114
AA Change: V792F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036
AA Change: V792F
| 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 |
noncoding transcript
Transcript: ENSMUST00000131939
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145403
|
| 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: ENSMUST00000142493
|
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
T |
C |
15: 90,112,592 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,608,554 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,297,296 (GRCm39) |
D585G |
probably null |
Het |
| Chaf1a |
G |
T |
17: 56,366,336 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,854,008 (GRCm39) |
S443P |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,613,390 (GRCm39) |
E215G |
probably damaging |
Het |
| Efhd2 |
T |
C |
4: 141,587,176 (GRCm39) |
N202S |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,384,853 (GRCm39) |
I308K |
probably damaging |
Het |
| Gm9848 |
T |
A |
13: 113,244,774 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
A |
1: 150,594,991 (GRCm39) |
T1826I |
probably damaging |
Het |
| Htr5a |
T |
C |
5: 28,047,742 (GRCm39) |
V99A |
probably benign |
Het |
| Inha |
T |
G |
1: 75,486,572 (GRCm39) |
F289C |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,294 (GRCm39) |
V519A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,364,390 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,747 (GRCm39) |
V292A |
possibly damaging |
Het |
| Magea13 |
T |
A |
X: 57,964,829 (GRCm39) |
I196N |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,647,089 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
G |
T |
4: 140,742,856 (GRCm39) |
A175S |
possibly damaging |
Het |
| Milr1 |
G |
A |
11: 106,656,071 (GRCm39) |
A114T |
possibly damaging |
Het |
| Nt5dc3 |
T |
A |
10: 86,661,089 (GRCm39) |
M418K |
possibly damaging |
Het |
| Or5b12 |
A |
G |
19: 12,897,490 (GRCm39) |
L61P |
probably damaging |
Het |
| Or7d10 |
A |
G |
9: 19,832,054 (GRCm39) |
E183G |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,293 (GRCm39) |
N194K |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,190 (GRCm39) |
W756* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,391 (GRCm39) |
Y235H |
probably damaging |
Het |
| Pgm5 |
G |
T |
19: 24,793,842 (GRCm39) |
A274E |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,411,260 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
A |
T |
12: 35,035,377 (GRCm39) |
N164I |
probably benign |
Het |
| Ralbp1 |
C |
A |
17: 66,171,277 (GRCm39) |
R232L |
probably damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,691,752 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,200 (GRCm39) |
H1819L |
possibly damaging |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,625,067 (GRCm39) |
S946A |
possibly damaging |
Het |
| Tph1 |
T |
G |
7: 46,314,662 (GRCm39) |
T22P |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,904 (GRCm39) |
I212T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,546,550 (GRCm39) |
I3442T |
probably benign |
Het |
| Vinac1 |
C |
A |
2: 128,880,622 (GRCm39) |
V435L |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,177,309 (GRCm39) |
I698V |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,774 (GRCm39) |
I240V |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,125,585 (GRCm39) |
T432A |
probably damaging |
Het |
|
| Other mutations in Mogs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5825:Mogs
|
UTSW |
6 |
83,095,193 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation