Incidental Mutation 'IGL00834:Alg5'
ID8783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg5
Ensembl Gene ENSMUSG00000036632
Gene Nameasparagine-linked glycosylation 5 (dolichyl-phosphate beta-glucosyltransferase)
Synonyms2600005J22Rik, 1500026A19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #IGL00834
Quality Score
Status
Chromosome3
Chromosomal Location54735539-54751318 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 54744719 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000155273]
Predicted Effect probably benign
Transcript: ENSMUST00000044567
SMART Domains Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 63 174 2.1e-10 PFAM
Pfam:Glycos_transf_2 68 250 2.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141191
SMART Domains Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143387
Predicted Effect probably benign
Transcript: ENSMUST00000155273
SMART Domains Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
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 a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
PHENOTYPE: Embryos homozygous for an ENU-induced mutation arrest unturned at E9.5 and display no left-right asymmetry. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A G 13: 4,512,665 probably null Het
App A T 16: 84,965,711 F675I probably damaging Het
Atad1 C A 19: 32,698,568 C152F probably benign Het
Atp2a3 A C 11: 72,982,787 I829L probably damaging Het
B3galt1 C T 2: 68,118,706 S255L probably damaging Het
Bptf A G 11: 107,073,928 V1417A possibly damaging Het
Cast T A 13: 74,736,974 T219S probably damaging Het
Cep95 A T 11: 106,818,217 I705F probably damaging Het
Cnot3 C T 7: 3,650,855 A2V probably damaging Het
Col1a1 A G 11: 94,949,378 D1084G unknown Het
Col5a3 G A 9: 20,786,389 Q873* probably null Het
Cubn C T 2: 13,381,927 G1509D probably damaging Het
Defb10 T A 8: 21,861,936 C66S possibly damaging Het
Dennd4b T C 3: 90,279,686 probably null Het
Dido1 G A 2: 180,689,526 T43M possibly damaging Het
Hmcn1 C T 1: 150,630,340 V3812I probably benign Het
Islr2 T C 9: 58,199,786 T64A probably benign Het
Kif2b A T 11: 91,576,380 I359N probably damaging Het
Kit A C 5: 75,645,959 N704T probably damaging Het
Ksr1 A G 11: 79,027,517 F604L probably damaging Het
Lrp5 A T 19: 3,649,404 F294I probably benign Het
Lrrn1 A G 6: 107,568,308 T356A probably benign Het
Mrps17 G A 5: 129,716,765 V8I probably benign Het
Nop56 T A 2: 130,275,995 H130Q possibly damaging Het
Plg T A 17: 12,411,493 L639Q probably damaging Het
Ppcdc A G 9: 57,415,140 F159L probably benign Het
Ppp1ca A G 19: 4,194,520 T193A probably benign Het
Prpf39 A G 12: 65,043,263 D117G probably damaging Het
Ranbp2 C A 10: 58,453,323 T51K possibly damaging Het
Sytl2 A G 7: 90,382,636 probably benign Het
Tenm2 T A 11: 36,024,258 I2150F probably damaging Het
Wdr11 T G 7: 129,593,093 probably null Het
Other mutations in Alg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2008:Alg5 UTSW 3 54746473 missense possibly damaging 0.92
R3428:Alg5 UTSW 3 54735585 start codon destroyed probably null
R3547:Alg5 UTSW 3 54749315 missense probably benign 0.15
R4372:Alg5 UTSW 3 54738955 critical splice donor site probably null
R4764:Alg5 UTSW 3 54746473 missense possibly damaging 0.92
R5128:Alg5 UTSW 3 54742137 splice site probably null
R5476:Alg5 UTSW 3 54746598 missense probably benign 0.01
R5638:Alg5 UTSW 3 54738833 missense probably benign 0.22
R6880:Alg5 UTSW 3 54738843 missense probably damaging 1.00
R6897:Alg5 UTSW 3 54748642 missense probably benign
Posted On2012-12-06