Incidental Mutation 'R3736:Mogs'
ID |
270119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mogs
|
Ensembl Gene |
ENSMUSG00000030036 |
Gene Name |
mannosyl-oligosaccharide glucosidase |
Synonyms |
1810017N02Rik, Gcs1 |
MMRRC Submission |
040723-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3736 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83092477-83095879 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 83093757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 242
(T242K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032114
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032111]
[ENSMUST00000032114]
[ENSMUST00000113935]
[ENSMUST00000113936]
[ENSMUST00000151393]
[ENSMUST00000205023]
[ENSMUST00000143814]
[ENSMUST00000146328]
|
AlphaFold |
Q80UM7 |
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: T242K
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032114 Gene: ENSMUSG00000030036 AA Change: T242K
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 |
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: ENSMUST00000205023
|
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 |
0.1920 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (53/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,021,903 (GRCm39) |
E307G |
probably benign |
Het |
Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
Suclg2 |
T |
A |
6: 95,474,677 (GRCm39) |
I363F |
probably damaging |
Het |
Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGATGTATGTTTGCCACAGTTC -3'
(R):5'- CATGAAAGGGATGCCTCTCC -3'
Sequencing Primer
(F):5'- TAATCCCTGCTGAGACTGGGTC -3'
(R):5'- AAAGGGATGCCTCTCCAGTCC -3'
|
Posted On |
2015-03-18 |