Incidental Mutation 'IGL01318:Mogs'
ID73925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mogs
Ensembl Gene ENSMUSG00000030036
Gene Namemannosyl-oligosaccharide glucosidase
SynonymsGcs1, 1810017N02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01318
Quality Score
Status
Chromosome6
Chromosomal Location83115496-83118898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 83118577 bp
ZygosityHeterozygous
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] [ENSMUST00000143814] [ENSMUST00000146328] [ENSMUST00000151393] [ENSMUST00000205023]
Predicted Effect probably benign
Transcript: ENSMUST00000032109
SMART Domains Protein: ENSMUSP00000032109
Gene: ENSMUSG00000030034

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000142493
Predicted Effect probably benign
Transcript: ENSMUST00000143814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145403
Predicted Effect probably benign
Transcript: ENSMUST00000146328
SMART Domains Protein: ENSMUSP00000122900
Gene: ENSMUSG00000030035

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000203069
Predicted Effect probably benign
Transcript: ENSMUST00000205023
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik T A X: 58,919,469 I196N probably damaging Het
Alg10b T C 15: 90,228,389 probably benign Het
Ambn T C 5: 88,460,695 probably benign Het
Asap2 A G 12: 21,247,295 D585G probably null Het
Chaf1a G T 17: 56,059,336 probably benign Het
Ddhd1 A G 14: 45,616,551 S443P probably damaging Het
Dlk2 A G 17: 46,302,464 E215G probably damaging Het
Efhd2 T C 4: 141,859,865 N202S probably benign Het
Fam208b A C 13: 3,575,067 S946A possibly damaging Het
Gkap1 A T 13: 58,237,039 I308K probably damaging Het
Gm14025 C A 2: 129,038,702 V435L probably benign Het
Gm9848 T A 13: 113,108,240 noncoding transcript Het
Hmcn1 G A 1: 150,719,240 T1826I probably damaging Het
Htr5a T C 5: 27,842,744 V99A probably benign Het
Inha T G 1: 75,509,928 F289C probably damaging Het
Kcna3 T C 3: 107,037,978 V519A probably benign Het
Kcnma1 A T 14: 23,314,322 probably benign Het
Kctd1 A G 18: 15,062,690 V292A possibly damaging Het
Map2k4 A G 11: 65,756,263 probably benign Het
Mfap2 G T 4: 141,015,545 A175S possibly damaging Het
Milr1 G A 11: 106,765,245 A114T possibly damaging Het
Nt5dc3 T A 10: 86,825,225 M418K possibly damaging Het
Olfr1098 A T 2: 86,922,949 N194K probably benign Het
Olfr1448 A G 19: 12,920,126 L61P probably damaging Het
Olfr77 A G 9: 19,920,758 E183G probably benign Het
Osbpl10 G A 9: 115,232,122 W756* probably null Het
Pgam5 A G 5: 110,265,525 Y235H probably damaging Het
Pgm5 G T 19: 24,816,478 A274E probably damaging Het
Prex1 C A 2: 166,569,340 probably benign Het
Prps1l1 A T 12: 34,985,378 N164I probably benign Het
Ralbp1 C A 17: 65,864,282 R232L probably damaging Het
Rnaseh2a C T 8: 84,965,123 probably benign Het
Stard9 A T 2: 120,698,719 H1819L possibly damaging Het
Stom T A 2: 35,336,877 I15F probably benign Het
Tph1 T G 7: 46,665,238 T22P probably damaging Het
Uqcrfs1 A G 13: 30,540,921 I212T probably benign Het
Ush2a T C 1: 188,814,353 I3442T probably benign Het
Vmn2r113 A G 17: 22,958,335 I698V probably benign Het
Vmn2r75 T C 7: 86,165,566 I240V probably benign Het
Wdr17 T C 8: 54,672,550 T432A probably damaging Het
Other mutations in Mogs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Mogs APN 6 83118055 missense probably benign 0.00
IGL02673:Mogs APN 6 83118218 missense probably damaging 1.00
IGL02862:Mogs APN 6 83115890 missense probably damaging 1.00
IGL02984:Mogs UTSW 6 83117315 missense probably benign 0.00
R1547:Mogs UTSW 6 83116025 missense possibly damaging 0.93
R1765:Mogs UTSW 6 83116803 missense probably benign 0.00
R2013:Mogs UTSW 6 83117650 nonsense probably null
R2015:Mogs UTSW 6 83117650 nonsense probably null
R3735:Mogs UTSW 6 83116776 missense possibly damaging 0.88
R3736:Mogs UTSW 6 83116776 missense possibly damaging 0.88
R4279:Mogs UTSW 6 83116067 missense probably damaging 1.00
R4585:Mogs UTSW 6 83118638 missense possibly damaging 0.56
R4586:Mogs UTSW 6 83118638 missense possibly damaging 0.56
R5783:Mogs UTSW 6 83118671 missense probably damaging 1.00
R5825:Mogs UTSW 6 83118212 missense possibly damaging 0.72
R6012:Mogs UTSW 6 83117382 missense probably damaging 1.00
R6753:Mogs UTSW 6 83115882 missense probably damaging 1.00
R7157:Mogs UTSW 6 83118507 missense probably benign 0.01
R7381:Mogs UTSW 6 83115632 missense unknown
R7485:Mogs UTSW 6 83116207 missense probably damaging 1.00
R7575:Mogs UTSW 6 83115835 missense probably damaging 1.00
R7659:Mogs UTSW 6 83116825 critical splice donor site probably null
Z1176:Mogs UTSW 6 83116213 missense probably damaging 1.00
Posted On2013-10-07