Incidental Mutation 'R6012:Mogs'
| ID |
479807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mogs
|
| Ensembl Gene |
ENSMUSG00000030036 |
| Gene Name |
mannosyl-oligosaccharide glucosidase |
| Synonyms |
1810017N02Rik, Gcs1 |
| MMRRC Submission |
044188-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6012 (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 A
at 83094363 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 393
(S393R)
|
| 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: S393R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036
AA Change: S393R
| 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: 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: ENSMUST00000131939
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
100% (55/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
A |
16: 8,400,691 (GRCm39) |
Y97N |
probably damaging |
Het |
| Adrm1b |
C |
A |
3: 92,336,791 (GRCm39) |
|
probably null |
Het |
| Akr1b10 |
A |
T |
6: 34,364,715 (GRCm39) |
I59F |
probably damaging |
Het |
| Als2 |
A |
T |
1: 59,224,374 (GRCm39) |
D1076E |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,919,598 (GRCm39) |
D266G |
probably benign |
Het |
| Bmp2k |
T |
A |
5: 97,211,467 (GRCm39) |
|
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,892,655 (GRCm39) |
Y273C |
probably damaging |
Het |
| Chfr |
G |
T |
5: 110,292,517 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,909,476 (GRCm39) |
Q1363L |
probably benign |
Het |
| Ddx23 |
A |
T |
15: 98,548,651 (GRCm39) |
D352E |
possibly damaging |
Het |
| Ect2 |
T |
C |
3: 27,152,474 (GRCm39) |
|
probably benign |
Het |
| Efcab10 |
A |
C |
12: 33,448,592 (GRCm39) |
D107A |
probably damaging |
Het |
| Fcgr4 |
G |
A |
1: 170,853,233 (GRCm39) |
G146D |
possibly damaging |
Het |
| Fgd5 |
A |
G |
6: 91,966,322 (GRCm39) |
T694A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,370,409 (GRCm39) |
D152G |
probably damaging |
Het |
| Gli2 |
A |
C |
1: 118,765,445 (GRCm39) |
L902R |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,429,172 (GRCm39) |
G125D |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,394 (GRCm39) |
Y168H |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,388,764 (GRCm39) |
K1962R |
possibly damaging |
Het |
| Hebp1 |
T |
A |
6: 135,145,055 (GRCm39) |
E14V |
probably damaging |
Het |
| Hhla1 |
A |
C |
15: 65,820,339 (GRCm39) |
I137S |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,337,934 (GRCm39) |
H2671R |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,113,098 (GRCm39) |
Y19C |
probably damaging |
Het |
| Hsd3b2 |
A |
T |
3: 98,619,333 (GRCm39) |
M204K |
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,031 (GRCm39) |
I551F |
probably benign |
Het |
| Itpkc |
A |
T |
7: 26,927,490 (GRCm39) |
D141E |
probably damaging |
Het |
| Kcnc3 |
A |
G |
7: 44,248,296 (GRCm39) |
D757G |
probably benign |
Het |
| Mettl16 |
A |
T |
11: 74,678,474 (GRCm39) |
Y141F |
probably damaging |
Het |
| Mfng |
G |
A |
15: 78,640,840 (GRCm39) |
R302C |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,044 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
C |
8: 108,093,765 (GRCm39) |
S150P |
probably benign |
Het |
| Or2w1 |
T |
C |
13: 21,316,978 (GRCm39) |
V11A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,237 (GRCm39) |
H244L |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,416,805 (GRCm39) |
S107P |
probably damaging |
Het |
| Phf21a |
G |
A |
2: 92,182,120 (GRCm39) |
D463N |
probably damaging |
Het |
| Picalm |
A |
C |
7: 89,844,908 (GRCm39) |
I567L |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,808,428 (GRCm39) |
D5V |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,428,305 (GRCm39) |
T222M |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,535,067 (GRCm39) |
S3775P |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,446,243 (GRCm39) |
D982V |
probably damaging |
Het |
| Tas2r113 |
C |
T |
6: 132,870,644 (GRCm39) |
T224I |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,055,112 (GRCm39) |
D310G |
probably damaging |
Het |
| Tcf12 |
G |
T |
9: 71,766,229 (GRCm39) |
T468K |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,171,640 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,172,542 (GRCm39) |
Y1907H |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,379,388 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,539,508 (GRCm39) |
T1605S |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,087,083 (GRCm39) |
Y191C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,272 (GRCm39) |
I355N |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,891 (GRCm39) |
D184E |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,117,439 (GRCm39) |
D575E |
probably damaging |
Het |
| Zan |
G |
A |
5: 137,462,791 (GRCm39) |
T796I |
unknown |
Het |
| Zfp639 |
A |
G |
3: 32,573,271 (GRCm39) |
D61G |
probably 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 |
|
R5825:Mogs
|
UTSW |
6 |
83,095,193 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
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'- GTGACACTGAAAGCCCCTTTC -3'
(R):5'- AGCTGGTGAAAGCCTTCATCC -3'
Sequencing Primer
(F):5'- GAAAGCCCCTTTCTCTGTGGAG -3'
(R):5'- TGGTGAAAGCCTTCATCCCAGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation