Incidental Mutation 'IGL00834:Alg5'
ID 8783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg5
Ensembl Gene ENSMUSG00000036632
Gene Name ALG5 dolichyl-phosphate beta-glucosyltransferase
Synonyms 2600005J22Rik, 1500026A19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # IGL00834
Quality Score
Status
Chromosome 3
Chromosomal Location 54642960-54657216 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 54652140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000155273]
AlphaFold Q9DB25
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: 4,562,664 (GRCm39) probably null Het
App A T 16: 84,762,599 (GRCm39) F675I probably damaging Het
Atad1 C A 19: 32,675,968 (GRCm39) C152F probably benign Het
Atp2a3 A C 11: 72,873,613 (GRCm39) I829L probably damaging Het
B3galt1 C T 2: 67,949,050 (GRCm39) S255L probably damaging Het
Bptf A G 11: 106,964,754 (GRCm39) V1417A possibly damaging Het
Cast T A 13: 74,885,093 (GRCm39) T219S probably damaging Het
Cep95 A T 11: 106,709,043 (GRCm39) I705F probably damaging Het
Cnot3 C T 7: 3,653,854 (GRCm39) A2V probably damaging Het
Col1a1 A G 11: 94,840,204 (GRCm39) D1084G unknown Het
Col5a3 G A 9: 20,697,685 (GRCm39) Q873* probably null Het
Cubn C T 2: 13,386,738 (GRCm39) G1509D probably damaging Het
Defb10 T A 8: 22,351,952 (GRCm39) C66S possibly damaging Het
Dennd4b T C 3: 90,186,993 (GRCm39) probably null Het
Dido1 G A 2: 180,331,319 (GRCm39) T43M possibly damaging Het
Hmcn1 C T 1: 150,506,091 (GRCm39) V3812I probably benign Het
Islr2 T C 9: 58,107,069 (GRCm39) T64A probably benign Het
Kif2b A T 11: 91,467,206 (GRCm39) I359N probably damaging Het
Kit A C 5: 75,806,619 (GRCm39) N704T probably damaging Het
Ksr1 A G 11: 78,918,343 (GRCm39) F604L probably damaging Het
Lrp5 A T 19: 3,699,404 (GRCm39) F294I probably benign Het
Lrrn1 A G 6: 107,545,269 (GRCm39) T356A probably benign Het
Mrps17 G A 5: 129,793,829 (GRCm39) V8I probably benign Het
Nop56 T A 2: 130,117,915 (GRCm39) H130Q possibly damaging Het
Plg T A 17: 12,630,380 (GRCm39) L639Q probably damaging Het
Ppcdc A G 9: 57,322,423 (GRCm39) F159L probably benign Het
Ppp1ca A G 19: 4,244,519 (GRCm39) T193A probably benign Het
Prpf39 A G 12: 65,090,037 (GRCm39) D117G probably damaging Het
Ranbp2 C A 10: 58,289,145 (GRCm39) T51K possibly damaging Het
Sytl2 A G 7: 90,031,844 (GRCm39) probably benign Het
Tenm2 T A 11: 35,915,085 (GRCm39) I2150F probably damaging Het
Wdr11 T G 7: 129,194,817 (GRCm39) probably null Het
Other mutations in Alg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2008:Alg5 UTSW 3 54,653,894 (GRCm39) missense possibly damaging 0.92
R3428:Alg5 UTSW 3 54,643,006 (GRCm39) start codon destroyed probably null
R3547:Alg5 UTSW 3 54,656,736 (GRCm39) missense probably benign 0.15
R4372:Alg5 UTSW 3 54,646,376 (GRCm39) critical splice donor site probably null
R4764:Alg5 UTSW 3 54,653,894 (GRCm39) missense possibly damaging 0.92
R5128:Alg5 UTSW 3 54,649,558 (GRCm39) splice site probably null
R5476:Alg5 UTSW 3 54,654,019 (GRCm39) missense probably benign 0.01
R5638:Alg5 UTSW 3 54,646,254 (GRCm39) missense probably benign 0.22
R6880:Alg5 UTSW 3 54,646,264 (GRCm39) missense probably damaging 1.00
R6897:Alg5 UTSW 3 54,656,063 (GRCm39) missense probably benign
R7317:Alg5 UTSW 3 54,656,752 (GRCm39) missense probably benign 0.00
R8244:Alg5 UTSW 3 54,646,221 (GRCm39) missense probably benign
Posted On 2012-12-06