Incidental Mutation 'R4372:Alg5'
ID 470066
Institutional Source Beutler Lab
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: 0.149) question?
Stock # R4372 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 54642960-54657216 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 54646376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029316] [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000155273] [ENSMUST00000153224] [ENSMUST00000154787]
AlphaFold Q9DB25
Predicted Effect probably benign
Transcript: ENSMUST00000029316
SMART Domains Protein: ENSMUSP00000029316
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 166 2.3e-29 PFAM
Pfam:RNase_PH_C 191 258 8.9e-15 PFAM
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000127112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140935
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150923
Predicted Effect probably benign
Transcript: ENSMUST00000153224
SMART Domains Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 130 2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154787
SMART Domains Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 19 106 5.7e-18 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,293 (GRCm39) Y213H probably damaging Het
Bend7 A T 2: 4,754,421 (GRCm39) I175F probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah1 C T 14: 31,026,879 (GRCm39) R715H probably damaging Het
Ipp T A 4: 116,372,560 (GRCm39) D196E possibly damaging Het
Kcna5 A G 6: 126,510,320 (GRCm39) *603Q probably null Het
Kdm3b A G 18: 34,960,497 (GRCm39) T1161A probably benign Het
Kif20a A T 18: 34,762,531 (GRCm39) Q468L probably damaging Het
Map7d2 A G X: 158,273,680 (GRCm39) probably benign Het
Mdn1 A G 4: 32,743,809 (GRCm39) E4015G probably benign Het
Mri1 A G 8: 84,980,554 (GRCm39) V296A probably benign Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Pcdhb10 T C 18: 37,546,366 (GRCm39) S481P possibly damaging Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Pklr C T 3: 89,052,830 (GRCm39) R528* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Samsn1 G A 16: 75,656,344 (GRCm39) T368I possibly damaging Het
Sema4d T C 13: 51,866,767 (GRCm39) E241G probably damaging Het
Shank2 G A 7: 143,964,599 (GRCm39) G729R probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Vmn2r53 A G 7: 12,315,656 (GRCm39) V721A probably damaging Het
Wdr17 T A 8: 55,092,930 (GRCm39) Y1076F probably damaging Het
Wdr75 T C 1: 45,845,833 (GRCm39) probably benign Het
Zhx2 A G 15: 57,686,697 (GRCm39) S689G probably benign Het
Other mutations in Alg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Alg5 APN 3 54,652,140 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CCATTGTGGCGTTTATAACTGC -3'
(R):5'- AATGAGTTAGCTAGCCCCAGC -3'

Sequencing Primer
(F):5'- GCGTTTATAACTGCTACAAAAATGCC -3'
(R):5'- CAGGGAAAAGTTATCTGTCATCTCCC -3'
Posted On 2017-03-06