Incidental Mutation 'R7317:Alg5'
ID 563451
Institutional Source Beutler Lab
Gene Symbol Alg5
Ensembl Gene ENSMUSG00000036632
Gene Name ALG5 dolichyl-phosphate beta-glucosyltransferase
Synonyms 2600005J22Rik, 1500026A19Rik
MMRRC Submission 045369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R7317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 54642960-54657216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54656752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 321 (R321L)
Ref Sequence ENSEMBL: ENSMUSP00000035879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000155273]
AlphaFold Q9DB25
Predicted Effect probably benign
Transcript: ENSMUST00000044567
AA Change: R321L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632
AA Change: R321L

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 probably benign
Transcript: ENSMUST00000155273
SMART Domains Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,140,202 (GRCm39) P832L probably benign Het
Adamts17 C T 7: 66,490,304 (GRCm39) R129* probably null Het
Amotl1 T A 9: 14,486,515 (GRCm39) T460S probably benign Het
Ankrd50 T C 3: 38,537,332 (GRCm39) E7G possibly damaging Het
Ap3b2 T C 7: 81,110,776 (GRCm39) T1000A unknown Het
Arap2 G A 5: 62,807,067 (GRCm39) T1200M probably damaging Het
Asb2 A T 12: 103,299,616 (GRCm39) I272N probably damaging Het
Bicd2 T C 13: 49,531,784 (GRCm39) L342P probably damaging Het
C1qtnf6 T A 15: 78,409,206 (GRCm39) I214F probably damaging Het
Cdc42bpg T A 19: 6,364,534 (GRCm39) H587Q probably benign Het
Cfap70 T A 14: 20,450,502 (GRCm39) I1010F possibly damaging Het
Chd1 A T 17: 15,962,536 (GRCm39) K764N possibly damaging Het
Cluh A G 11: 74,556,530 (GRCm39) D956G possibly damaging Het
Ehbp1l1 T C 19: 5,770,730 (GRCm39) D243G probably benign Het
Ercc4 T C 16: 12,939,977 (GRCm39) V169A probably benign Het
Erich6 T C 3: 58,544,305 (GRCm39) E94G probably benign Het
Fubp3 A G 2: 31,494,624 (GRCm39) probably null Het
Gabbr1 C T 17: 37,380,305 (GRCm39) T736I probably damaging Het
Garre1 A G 7: 33,963,072 (GRCm39) V200A probably benign Het
Gm14496 T A 2: 181,637,613 (GRCm39) M229K possibly damaging Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gspt1 T C 16: 11,040,521 (GRCm39) T596A probably benign Het
H1f4 A G 13: 23,806,350 (GRCm39) I44T probably damaging Het
Htr5b T A 1: 121,438,157 (GRCm39) Y358F probably damaging Het
Il18r1 A T 1: 40,513,992 (GRCm39) Y66F possibly damaging Het
Il18rap A G 1: 40,564,536 (GRCm39) T189A probably damaging Het
Irag2 G A 6: 145,104,424 (GRCm39) G164R possibly damaging Het
Itgav G T 2: 83,625,327 (GRCm39) A771S probably benign Het
Klf11 T C 12: 24,705,518 (GRCm39) V324A possibly damaging Het
Krtap15-1 T C 16: 88,626,193 (GRCm39) C87R probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Mbd5 A G 2: 49,169,755 (GRCm39) D1642G probably benign Het
Med15 G T 16: 17,489,507 (GRCm39) Q356K unknown Het
Mmp3 A G 9: 7,446,937 (GRCm39) Y39C probably damaging Het
Mon2 A G 10: 122,849,851 (GRCm39) S1149P probably damaging Het
Msh3 A G 13: 92,422,512 (GRCm39) I548T probably damaging Het
Noc2l T A 4: 156,323,673 (GRCm39) V179E possibly damaging Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or5k3 T G 16: 58,969,684 (GRCm39) M157R possibly damaging Het
Or5p64 G T 7: 107,854,425 (GRCm39) Q307K probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdhb10 A T 18: 37,546,079 (GRCm39) Q385L possibly damaging Het
Pdzd2 T C 15: 12,592,329 (GRCm39) K105R probably damaging Het
Pex1 A T 5: 3,668,875 (GRCm39) D582V probably damaging Het
Pheta1 A T 5: 121,991,336 (GRCm39) T233S possibly damaging Het
Pi4ka A G 16: 17,223,496 (GRCm39) probably null Het
Pigw T C 11: 84,768,066 (GRCm39) N421S probably benign Het
Plek T C 11: 16,944,739 (GRCm39) K97R probably benign Het
R3hcc1l C T 19: 42,571,979 (GRCm39) R753* probably null Het
R3hdml G A 2: 163,344,367 (GRCm39) W252* probably null Het
Septin12 T C 16: 4,809,599 (GRCm39) K238E probably damaging Het
Sgce G A 6: 4,691,615 (GRCm39) T320I probably benign Het
Sidt2 A T 9: 45,854,988 (GRCm39) C562* probably null Het
Skint8 T C 4: 111,796,717 (GRCm39) C274R possibly damaging Het
Slc13a5 A T 11: 72,135,953 (GRCm39) M529K probably damaging Het
Smg8 T G 11: 86,976,391 (GRCm39) S397R possibly damaging Het
Spock3 G T 8: 63,566,590 (GRCm39) R68L possibly damaging Het
Stau2 T A 1: 16,530,553 (GRCm39) H122L unknown Het
Tent5a G C 9: 85,206,670 (GRCm39) A376G possibly damaging Het
Tert G A 13: 73,790,495 (GRCm39) R858H probably damaging Het
Tgm3 G A 2: 129,890,211 (GRCm39) R658Q probably benign Het
Tmc4 A G 7: 3,672,918 (GRCm39) I455T probably benign Het
Tmtc4 G A 14: 123,215,593 (GRCm39) P18S probably benign Het
Tnc A G 4: 63,890,959 (GRCm39) I1641T probably damaging Het
Trav14-3 A T 14: 54,000,951 (GRCm39) N54I probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc5c T A 3: 141,495,703 (GRCm39) M524K probably benign Het
Unc93a A G 17: 13,335,171 (GRCm39) F292L probably benign Het
Uso1 A G 5: 92,321,851 (GRCm39) N248S possibly damaging Het
Usp5 A G 6: 124,803,281 (GRCm39) L73P probably damaging Het
Utp20 T A 10: 88,598,797 (GRCm39) I60F possibly damaging Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F 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
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
R8244:Alg5 UTSW 3 54,646,221 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCTGACTTGTAGGTTACAGC -3'
(R):5'- AACCTTAAGTGACAGGAGCC -3'

Sequencing Primer
(F):5'- CTGACTTGTAGGTTACAGCTCTAAAC -3'
(R):5'- GCCCATCGAGGCTTTATT -3'
Posted On 2019-06-26