Incidental Mutation 'R6880:Alg5'
ID 536603
Institutional Source Beutler Lab
Gene Symbol Alg5
Ensembl Gene ENSMUSG00000036632
Gene Name ALG5 dolichyl-phosphate beta-glucosyltransferase
Synonyms 2600005J22Rik, 1500026A19Rik
MMRRC Submission 044976-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R6880 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 54642960-54657216 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54646264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 43 (E43G)
Ref Sequence ENSEMBL: ENSMUSP00000119260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029316] [ENSMUST00000044567] [ENSMUST00000141191] [ENSMUST00000153224] [ENSMUST00000154787] [ENSMUST00000155273]
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 damaging
Transcript: ENSMUST00000044567
AA Change: E43G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035879
Gene: ENSMUSG00000036632
AA Change: E43G

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 damaging
Transcript: ENSMUST00000141191
AA Change: E43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118818
Gene: ENSMUSG00000036632
AA Change: E43G

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
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
Predicted Effect probably damaging
Transcript: ENSMUST00000155273
AA Change: E43G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119260
Gene: ENSMUSG00000036632
AA Change: E43G

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 97% (62/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,123,854 (GRCm39) probably null Het
Aff3 T C 1: 38,574,243 (GRCm39) H206R probably damaging Het
Aff3 T C 1: 38,666,209 (GRCm39) D5G possibly damaging Het
Ankrd36 T C 11: 5,578,748 (GRCm39) L4P probably damaging Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Atf7ip A G 6: 136,538,038 (GRCm39) I432V probably damaging Het
B230307C23Rik T C 16: 97,798,627 (GRCm39) probably benign Het
Baz2b T A 2: 59,743,283 (GRCm39) N1563Y probably damaging Het
Bhlha15 A T 5: 144,128,451 (GRCm39) T188S probably damaging Het
Cbr3 T C 16: 93,487,426 (GRCm39) V203A probably benign Het
Cpsf1 T C 15: 76,486,739 (GRCm39) T266A probably benign Het
Dnah7c T C 1: 46,566,831 (GRCm39) Y681H probably damaging Het
Dock2 C T 11: 34,579,279 (GRCm39) probably null Het
Dsc1 T A 18: 20,221,429 (GRCm39) D682V probably damaging Het
Fkbp15 A T 4: 62,254,732 (GRCm39) I256N possibly damaging Het
Foxd1 A C 13: 98,491,225 (GRCm39) D33A unknown Het
Gid4 T A 11: 60,327,261 (GRCm39) F149I probably damaging Het
Hmcn2 G T 2: 31,233,068 (GRCm39) V206L probably damaging Het
Ighg2b T C 12: 113,270,726 (GRCm39) I135V Het
Ighv1-24 T C 12: 114,736,663 (GRCm39) Y79C possibly damaging Het
Impg1 T A 9: 80,312,082 (GRCm39) D167V probably damaging Het
Jakmip1 T C 5: 37,262,967 (GRCm39) S372P possibly damaging Het
Kcnb1 T C 2: 166,947,727 (GRCm39) T374A probably damaging Het
Lrrn4 A G 2: 132,714,032 (GRCm39) S305P probably damaging Het
Ltbp1 C T 17: 75,628,044 (GRCm39) T1179I possibly damaging Het
Mab21l2 A G 3: 86,454,463 (GRCm39) I179T possibly damaging Het
Myo5b A T 18: 74,855,501 (GRCm39) H1230L probably benign Het
Myocos T C 1: 162,484,602 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,999 (GRCm39) T249A probably damaging Het
Oas1a C A 5: 121,040,003 (GRCm39) R196L probably damaging Het
Or2ag18 A T 7: 106,405,019 (GRCm39) S217T probably damaging Het
Or5an11 A G 19: 12,245,974 (GRCm39) I127V probably benign Het
Or8k41 A G 2: 86,314,069 (GRCm39) F6L probably benign Het
Phxr2 G A 10: 98,961,946 (GRCm39) probably benign Het
Pigq A G 17: 26,153,802 (GRCm39) L85P probably damaging Het
Pla2g4a T A 1: 149,727,202 (GRCm39) D518V possibly damaging Het
Pm20d1 A G 1: 131,731,839 (GRCm39) K294E probably benign Het
Polr3d C A 14: 70,677,455 (GRCm39) R307L probably benign Het
Pou5f2 T C 13: 78,173,613 (GRCm39) L185P possibly damaging Het
Prex2 A T 1: 11,202,608 (GRCm39) N506Y probably damaging Het
Proser1 T A 3: 53,385,260 (GRCm39) S381T probably benign Het
Prpf4b T C 13: 35,078,436 (GRCm39) V682A possibly damaging Het
Prr14l A T 5: 32,988,211 (GRCm39) L428Q probably benign Het
Prss23 A G 7: 89,160,033 (GRCm39) V12A probably benign Het
Qki T C 17: 10,434,376 (GRCm39) D321G probably benign Het
Rab11fip5 A G 6: 85,325,827 (GRCm39) L193P probably damaging Het
Retreg1 T G 15: 25,971,825 (GRCm39) L245R probably damaging Het
Rfc1 T C 5: 65,434,729 (GRCm39) N679S probably benign Het
Rpl4 C T 9: 64,084,335 (GRCm39) A220V probably damaging Het
Rxra G A 2: 27,638,668 (GRCm39) E224K possibly damaging Het
Slc26a7 A G 4: 14,516,159 (GRCm39) C557R possibly damaging Het
Sncaip A G 18: 53,002,136 (GRCm39) K219R probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Sphkap A G 1: 83,234,978 (GRCm39) V1616A probably damaging Het
Sulf1 T C 1: 12,912,979 (GRCm39) C738R probably damaging Het
Suz12 T A 11: 79,892,998 (GRCm39) C38* probably null Het
Ttn T C 2: 76,550,842 (GRCm39) T23190A probably damaging Het
Twnk A G 19: 44,995,855 (GRCm39) D96G probably benign Het
Vcan T A 13: 89,860,500 (GRCm39) N289I probably damaging Het
Vmn2r120 A T 17: 57,816,187 (GRCm39) S723T probably damaging Het
Vmn2r97 A T 17: 19,134,770 (GRCm39) I63F probably benign Het
Washc5 T C 15: 59,222,021 (GRCm39) N125S probably benign Het
Zfp865 A G 7: 5,033,548 (GRCm39) Y511C 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
R5638:Alg5 UTSW 3 54,646,254 (GRCm39) missense probably benign 0.22
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'- AAGTCTGGCTGCCATGAAAC -3'
(R):5'- TCCAACTCTGTACTCCTCAGGG -3'

Sequencing Primer
(F):5'- GAATCACCTCCAGGACTGTTAG -3'
(R):5'- CTCAGGGAGGGCAGACACTG -3'
Posted On 2018-10-18