Incidental Mutation 'IGL02314:Mogs'
ID287964
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? Possibly essential (E-score: 0.518) question?
Stock #IGL02314
Quality Score
Status
Chromosome6
Chromosomal Location83115496-83118898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83118055 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 618 (T618A)
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 benign
Transcript: ENSMUST00000032114
AA Change: T618A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032114
Gene: ENSMUSG00000030036
AA Change: T618A

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 K94* probably null Het
Axl A G 7: 25,786,920 F120L possibly damaging Het
Baz2b A G 2: 59,962,227 V519A probably benign Het
Cdk2 A T 10: 128,703,726 I99N probably damaging Het
Ces1b C A 8: 93,064,896 W358C possibly damaging Het
Clca3b A G 3: 144,828,142 probably benign Het
Col6a4 T G 9: 105,997,156 T2211P probably damaging Het
Cyp4f14 C T 17: 32,906,291 E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 T407S possibly damaging Het
Dtx3 G A 10: 127,190,959 probably benign Het
Fat3 A T 9: 15,969,838 L3246H possibly damaging Het
Fat4 A T 3: 38,887,630 D224V probably damaging Het
Fndc9 A T 11: 46,238,295 I214F probably benign Het
Foxred1 A T 9: 35,205,968 I22N probably damaging Het
Gkn1 T C 6: 87,349,121 D29G probably benign Het
Gm13078 T C 4: 143,728,442 S437P probably benign Het
Gm2035 T A 12: 87,919,607 Y84F probably benign Het
Gng11 T A 6: 4,004,317 M1K probably null Het
Hdac7 T C 15: 97,809,004 D237G probably damaging Het
Hgf A G 5: 16,572,602 Y199C probably damaging Het
Hgfac A T 5: 35,041,597 M1L probably benign Het
Hsd17b6 T C 10: 127,997,908 T35A probably damaging Het
Htr3a G A 9: 48,904,627 P170L probably damaging Het
Ighv12-3 A G 12: 114,366,801 S25P probably damaging Het
Jph2 A T 2: 163,397,353 N58K probably damaging Het
Lama5 A G 2: 180,194,482 probably benign Het
Lpin3 T A 2: 160,898,718 Y394* probably null Het
Macf1 G T 4: 123,444,837 T2248K probably damaging Het
Map3k2 A G 18: 32,218,500 probably benign Het
Map4k5 G A 12: 69,818,439 P524S probably benign Het
Mcf2l C T 8: 13,001,851 S359L probably damaging Het
Mdh1b C T 1: 63,711,114 probably null Het
Mfhas1 G A 8: 35,588,773 R134H probably damaging Het
Mybpc2 T A 7: 44,522,388 Q39H possibly damaging Het
Myoc C T 1: 162,639,348 R29W probably damaging Het
Nae1 A G 8: 104,526,306 M162T probably damaging Het
Nfatc3 A G 8: 106,078,900 I126V probably benign Het
Nxnl2 C A 13: 51,171,529 F69L probably benign Het
Oca2 T A 7: 56,357,151 I662N probably benign Het
Odf3b T G 15: 89,378,169 K82N probably damaging Het
Olfr1151 A G 2: 87,858,056 N294D probably damaging Het
Olfr1356 A T 10: 78,847,265 S217T probably damaging Het
Olfr549 A T 7: 102,555,111 I276F probably damaging Het
Olfr872 A T 9: 20,260,478 I213L probably benign Het
Pcdhb14 G A 18: 37,450,195 E785K probably benign Het
Plb1 A C 5: 32,281,148 Y209S possibly damaging Het
Rab44 C A 17: 29,139,353 Q172K probably benign Het
Rnf214 A T 9: 45,899,807 V186E probably benign Het
Rps6ka1 C A 4: 133,850,754 G522W probably damaging Het
Samhd1 G T 2: 157,135,028 T21K probably damaging Het
Scly A G 1: 91,319,041 Y358C probably benign Het
Sfxn2 A G 19: 46,582,587 N29D possibly damaging Het
Shank2 A G 7: 144,411,271 D1451G probably benign Het
Slc44a5 G A 3: 154,256,519 S363N probably damaging Het
Smg1 A G 7: 118,154,709 probably benign Het
Tas1r3 A T 4: 155,860,662 C701S probably damaging Het
Tmem87a A G 2: 120,404,021 S14P possibly damaging Het
Trmt6 G A 2: 132,805,458 A486V probably benign Het
Ttn G A 2: 76,896,747 R1602* probably null Het
Ush2a A G 1: 188,633,629 M2227V probably benign Het
Vmn2r96 A T 17: 18,583,959 Q490H probably benign Het
Wdr19 G T 5: 65,257,120 A1279S probably benign Het
Zbtb7c G A 18: 76,145,866 R465H probably damaging Het
Zfp473 T C 7: 44,733,929 S326G probably benign Het
Other mutations in Mogs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Mogs APN 6 83118577 missense probably damaging 1.00
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
Posted On2015-04-16