Incidental Mutation 'IGL02673:Mogs'
| ID |
303004 |
| 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 # |
IGL02673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
83092477-83095879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83095199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 672
(V672A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032109]
[ENSMUST00000032111]
[ENSMUST00000032114]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000205023]
[ENSMUST00000151393]
[ENSMUST00000146328]
[ENSMUST00000143814]
|
| 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: V672A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036
AA Change: V672A
| 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: ENSMUST00000205023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131939
|
| 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 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143814
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,897,150 (GRCm39) |
Y610H |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
| Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
| Chpf2 |
G |
A |
5: 24,796,302 (GRCm39) |
R416Q |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
| Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
| Gm57858 |
A |
C |
3: 36,100,848 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,154,323 (GRCm39) |
Y230C |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
| Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
| Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
| Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
| Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 142,058,548 (GRCm39) |
E65D |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
| Sin3a |
C |
A |
9: 57,014,725 (GRCm39) |
Q649K |
probably damaging |
Het |
| Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation