Incidental Mutation 'R5638:Alg5'
ID 440477
Institutional Source Beutler Lab
Gene Symbol Alg5
Ensembl Gene ENSMUSG00000036632
Gene Name ALG5 dolichyl-phosphate beta-glucosyltransferase
Synonyms 2600005J22Rik, 1500026A19Rik
MMRRC Submission 043168-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R5638 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 54642960-54657216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54646254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 40 (H40Y)
Ref Sequence ENSEMBL: ENSMUSP00000119260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029316] [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000155273] [ENSMUST00000154787] [ENSMUST00000153224]
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 benign
Transcript: ENSMUST00000044567
AA Change: H40Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632
AA Change: H40Y

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
AA Change: H40Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632
AA Change: H40Y

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155273
AA Change: H40Y

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632
AA Change: H40Y

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150923
Predicted Effect probably benign
Transcript: ENSMUST00000154787
SMART Domains Protein: ENSMUSP00000115876
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 19 106 5.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153224
SMART Domains Protein: ENSMUSP00000118780
Gene: ENSMUSG00000027752

DomainStartEndE-ValueType
Pfam:RNase_PH 31 130 2e-16 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik G A 10: 76,288,729 (GRCm39) A96T probably benign Het
A930018M24Rik T C 14: 51,134,414 (GRCm39) D76G possibly damaging Het
Adamtsl3 A T 7: 82,260,958 (GRCm39) R1631W probably damaging Het
B3galt1 T C 2: 67,949,095 (GRCm39) L270P probably damaging Het
Ceacam3 A G 7: 16,893,860 (GRCm39) Y457C probably damaging Het
Cenpa A T 5: 30,830,736 (GRCm39) R124W probably damaging Het
Cfap44 A G 16: 44,275,894 (GRCm39) T1385A possibly damaging Het
Chd9 A T 8: 91,738,078 (GRCm39) H1570L possibly damaging Het
Cmtm4 T C 8: 105,084,356 (GRCm39) I113V probably benign Het
Dmxl1 T C 18: 50,024,693 (GRCm39) I1789T possibly damaging Het
Dpf3 G A 12: 83,371,714 (GRCm39) R174W probably damaging Het
Dusp26 T C 8: 31,584,169 (GRCm39) L92P probably damaging Het
Fndc7 T A 3: 108,770,208 (GRCm39) T659S possibly damaging Het
Fry A G 5: 150,282,546 (GRCm39) H357R possibly damaging Het
G0s2 A T 1: 192,954,859 (GRCm39) L75H probably damaging Het
Gm5493 A G 17: 22,969,065 (GRCm39) T82A probably benign Het
Herc2 T C 7: 55,854,164 (GRCm39) V3690A probably benign Het
Igf2bp3 C A 6: 49,064,734 (GRCm39) V537F probably damaging Het
Kntc1 C T 5: 123,956,538 (GRCm39) R2101W possibly damaging Het
Kpna2rt T C 17: 90,217,635 (GRCm39) E37G probably damaging Het
Mrgpra6 G T 7: 46,835,657 (GRCm39) P255T probably damaging Het
Ncor2 A G 5: 125,125,364 (GRCm39) V229A probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6c210 T A 10: 129,495,969 (GRCm39) I98K possibly damaging Het
Or7g21 T A 9: 19,032,676 (GRCm39) C142S probably benign Het
Ppt2 C A 17: 34,844,823 (GRCm39) M140I probably benign Het
Ppwd1 A G 13: 104,356,906 (GRCm39) I203T probably damaging Het
Prpf6 A G 2: 181,287,381 (GRCm39) T589A probably benign Het
Psd4 T C 2: 24,287,427 (GRCm39) L453P probably benign Het
Ptpn14 A G 1: 189,519,038 (GRCm39) T23A probably damaging Het
Rxrb T C 17: 34,256,381 (GRCm39) L374P probably damaging Het
Scaf4 T C 16: 90,041,198 (GRCm39) E710G unknown Het
Sik1 C T 17: 32,069,802 (GRCm39) V216I probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc30a5 T A 13: 100,950,380 (GRCm39) K236* probably null Het
Slc38a4 A C 15: 96,910,871 (GRCm39) S135A probably damaging Het
Slc9a1 T A 4: 133,139,571 (GRCm39) V263D probably damaging Het
Socs2 T C 10: 95,228,745 (GRCm39) I168M unknown Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sspo T C 6: 48,469,825 (GRCm39) S4508P possibly damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Stip1 G A 19: 7,009,883 (GRCm39) P213L probably damaging Het
Tarbp1 A T 8: 127,177,425 (GRCm39) L749Q probably damaging Het
Thsd7b T G 1: 129,523,270 (GRCm39) S24R probably benign Het
Upp2 T C 2: 58,680,107 (GRCm39) V293A probably damaging Het
Vmn2r65 C T 7: 84,590,047 (GRCm39) C623Y probably damaging Het
Vps54 T C 11: 21,258,799 (GRCm39) V742A probably damaging 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
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'- TGCCATGAAACCGCAGAATC -3'
(R):5'- CAGTCTCAGCTCCAACTCTG -3'

Sequencing Primer
(F):5'- GAATCACCTCCAGGACTGTTAG -3'
(R):5'- CCAACTCTGTACTCCTCAGGG -3'
Posted On 2016-11-08