Incidental Mutation 'R8849:Mogs'
ID |
674880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mogs
|
Ensembl Gene |
ENSMUSG00000030036 |
Gene Name |
mannosyl-oligosaccharide glucosidase |
Synonyms |
1810017N02Rik, Gcs1 |
MMRRC Submission |
068672-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8849 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83092477-83095879 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83094986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 601
(V601A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032109]
[ENSMUST00000032111]
[ENSMUST00000032114]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000143814]
[ENSMUST00000146328]
[ENSMUST00000151393]
[ENSMUST00000205023]
|
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: V601A
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000032114 Gene: ENSMUSG00000030036 AA Change: V601A
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 |
probably benign
Transcript: ENSMUST00000131936
|
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 |
|
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: ENSMUST00000205023
|
Meta Mutation Damage Score |
0.4717 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (52/52) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630010A05Rik |
G |
A |
16: 14,439,376 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,669,324 (GRCm39) |
T2411A |
probably benign |
Het |
Aldh5a1 |
T |
A |
13: 25,121,464 (GRCm39) |
T30S |
probably benign |
Het |
Alg1 |
G |
A |
16: 5,051,532 (GRCm39) |
A7T |
possibly damaging |
Het |
Ano10 |
T |
A |
9: 122,090,510 (GRCm39) |
M268L |
probably benign |
Het |
Avil |
T |
C |
10: 126,844,661 (GRCm39) |
V264A |
possibly damaging |
Het |
Bicc1 |
T |
A |
10: 70,782,694 (GRCm39) |
I558F |
probably benign |
Het |
Bst1 |
A |
T |
5: 43,977,927 (GRCm39) |
H92L |
possibly damaging |
Het |
C1s2 |
T |
C |
6: 124,602,754 (GRCm39) |
N486D |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,734,627 (GRCm39) |
H452L |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,537 (GRCm39) |
D233E |
probably benign |
Het |
Ceacam18 |
G |
T |
7: 43,294,967 (GRCm39) |
L342F |
probably benign |
Het |
Cep95 |
T |
A |
11: 106,707,630 (GRCm39) |
M691K |
|
Het |
Cfap221 |
G |
A |
1: 119,922,874 (GRCm39) |
P23S |
probably damaging |
Het |
Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
Col20a1 |
T |
C |
2: 180,640,432 (GRCm39) |
Y572H |
probably damaging |
Het |
Cr2 |
C |
T |
1: 194,839,547 (GRCm39) |
V627M |
probably damaging |
Het |
Cul2 |
T |
A |
18: 3,423,551 (GRCm39) |
H320Q |
probably benign |
Het |
Ddx5 |
A |
T |
11: 106,675,975 (GRCm39) |
V266E |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,846,365 (GRCm39) |
V336A |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,121,156 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
C |
A |
7: 105,370,723 (GRCm39) |
Q4668K |
probably benign |
Het |
Dock7 |
C |
T |
4: 98,904,986 (GRCm39) |
E630K |
|
Het |
Dolk |
T |
C |
2: 30,174,935 (GRCm39) |
E370G |
probably damaging |
Het |
Ercc6 |
T |
A |
14: 32,291,565 (GRCm39) |
L1003Q |
probably damaging |
Het |
Foxc1 |
T |
C |
13: 31,992,817 (GRCm39) |
S543P |
unknown |
Het |
Gbp2b |
A |
C |
3: 142,313,913 (GRCm39) |
M398L |
probably benign |
Het |
Gigyf2 |
G |
T |
1: 87,361,592 (GRCm39) |
R908L |
unknown |
Het |
Gpr176 |
T |
A |
2: 118,110,095 (GRCm39) |
E388V |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,179,704 (GRCm39) |
G199E |
probably benign |
Het |
Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
Ifi208 |
G |
A |
1: 173,506,184 (GRCm39) |
|
probably benign |
Het |
Itgad |
T |
A |
7: 127,789,157 (GRCm39) |
|
probably benign |
Het |
Kif20b |
C |
T |
19: 34,915,716 (GRCm39) |
Q498* |
probably null |
Het |
Lmo7 |
T |
C |
14: 102,163,543 (GRCm39) |
Y1463H |
unknown |
Het |
Mms19 |
A |
T |
19: 41,952,767 (GRCm39) |
L114Q |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,407,447 (GRCm39) |
M87L |
probably benign |
Het |
Nhlrc2 |
T |
C |
19: 56,580,184 (GRCm39) |
V439A |
possibly damaging |
Het |
Npc1l1 |
T |
A |
11: 6,179,038 (GRCm39) |
H124L |
probably damaging |
Het |
Opn4 |
A |
G |
14: 34,318,986 (GRCm39) |
W200R |
probably damaging |
Het |
Or2b2b |
T |
C |
13: 21,858,226 (GRCm39) |
E296G |
possibly damaging |
Het |
Pax2 |
T |
C |
19: 44,749,111 (GRCm39) |
|
probably benign |
Het |
Phf20 |
G |
T |
2: 156,118,440 (GRCm39) |
Q381H |
probably damaging |
Het |
Pramel25 |
A |
G |
4: 143,521,596 (GRCm39) |
N404S |
probably damaging |
Het |
Pramel32 |
T |
A |
4: 88,546,014 (GRCm39) |
T443S |
probably benign |
Het |
Pramel34 |
A |
T |
5: 93,784,197 (GRCm39) |
H422Q |
probably benign |
Het |
Rb1 |
C |
T |
14: 73,434,709 (GRCm39) |
R903Q |
probably damaging |
Het |
Scamp4 |
T |
A |
10: 80,445,266 (GRCm39) |
V37E |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,302,673 (GRCm39) |
W733R |
probably damaging |
Het |
Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
Slc4a5 |
T |
C |
6: 83,250,180 (GRCm39) |
F638L |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,159,171 (GRCm39) |
S703P |
probably damaging |
Het |
Tulp4 |
T |
A |
17: 6,272,656 (GRCm39) |
M570K |
probably benign |
Het |
Zfp433 |
T |
C |
10: 81,556,875 (GRCm39) |
I459T |
probably benign |
Het |
Zfp697 |
A |
G |
3: 98,334,943 (GRCm39) |
E236G |
probably benign |
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 |
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 |
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'- GACCCTGATGATTTGGCCTTTC -3'
(R):5'- TTGTGTGGTTCCCAAAGTCAG -3'
Sequencing Primer
(F):5'- GATGATTTGGCCTTTCTCCGCAAG -3'
(R):5'- TGTGGTTCCCAAAGTCAGCAAAG -3'
|
Posted On |
2021-07-15 |