Incidental Mutation 'IGL00673:Alg2'
ID 8779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg2
Ensembl Gene ENSMUSG00000039740
Gene Name ALG2 alpha-1,3/1,6-mannosyltransferase
Synonyms CDGIi, 1110018A23Rik, ALPG2, 1300013N08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00673
Quality Score
Status
Chromosome 4
Chromosomal Location 47469833-47474367 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47472329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 160 (D160N)
Ref Sequence ENSEMBL: ENSMUSP00000043580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044148] [ENSMUST00000065678] [ENSMUST00000125622] [ENSMUST00000137461]
AlphaFold Q9DBE8
Predicted Effect probably damaging
Transcript: ENSMUST00000044148
AA Change: D160N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043580
Gene: ENSMUSG00000039740
AA Change: D160N

DomainStartEndE-ValueType
Pfam:Glyco_transf_4 21 208 1.1e-10 PFAM
Pfam:Glyco_trans_4_4 27 189 1.3e-12 PFAM
Pfam:Glycos_transf_1 211 393 4.1e-37 PFAM
Pfam:Glyco_trans_1_4 224 379 1.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065678
SMART Domains Protein: ENSMUSP00000067681
Gene: ENSMUSG00000053317

DomainStartEndE-ValueType
Pfam:Sec61_beta 51 91 1.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136912
Predicted Effect probably benign
Transcript: ENSMUST00000137461
Predicted Effect unknown
Transcript: ENSMUST00000143104
AA Change: D32N
SMART Domains Protein: ENSMUSP00000121934
Gene: ENSMUSG00000039740
AA Change: D32N

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Glycos_transf_1 84 177 6.7e-11 PFAM
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 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous mice die prior to genotyping age. Female heterozygous mice exhibit decreased skin fibroblast proliferation rates. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,075,714 (GRCm39) S1191P possibly damaging Het
Cd177 A T 7: 24,451,442 (GRCm39) F487Y possibly damaging Het
Cdc27 A G 11: 104,419,261 (GRCm39) Y224H probably damaging Het
Cdhr1 A G 14: 36,807,485 (GRCm39) V385A probably benign Het
Cep128 G T 12: 91,200,965 (GRCm39) H31Q probably benign Het
Ehd4 A G 2: 119,932,701 (GRCm39) S242P probably damaging Het
Esco1 A G 18: 10,582,078 (GRCm39) F647L probably damaging Het
Itgbl1 C T 14: 124,083,844 (GRCm39) probably benign Het
Kcnj3 G T 2: 55,485,284 (GRCm39) D461Y possibly damaging Het
Kcnq3 G A 15: 65,867,120 (GRCm39) T841M probably damaging Het
Kcnt2 T G 1: 140,523,789 (GRCm39) N1103K possibly damaging Het
Mib1 A G 18: 10,798,490 (GRCm39) S784G probably benign Het
Miga2 T G 2: 30,257,729 (GRCm39) M9R probably benign Het
Pals1 C A 12: 78,876,573 (GRCm39) R506S possibly damaging Het
Prl2a1 T C 13: 27,992,436 (GRCm39) S187P probably damaging Het
Psg28 A G 7: 18,161,816 (GRCm39) V229A probably damaging Het
Ptdss2 G T 7: 140,723,038 (GRCm39) C84F probably benign Het
Recql T A 6: 142,322,647 (GRCm39) N85I probably null Het
Tex47 A T 5: 7,355,211 (GRCm39) I131F probably damaging Het
Tlk1 G T 2: 70,575,860 (GRCm39) Q323K probably damaging Het
Other mutations in Alg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Alg2 APN 4 47,472,143 (GRCm39) nonsense probably null
IGL02321:Alg2 APN 4 47,474,249 (GRCm39) missense probably benign 0.01
IGL02697:Alg2 APN 4 47,471,772 (GRCm39) missense probably damaging 0.99
PIT4434001:Alg2 UTSW 4 47,474,076 (GRCm39) missense probably benign 0.13
R1265:Alg2 UTSW 4 47,474,289 (GRCm39) unclassified probably benign
R1861:Alg2 UTSW 4 47,471,670 (GRCm39) missense probably benign
R3147:Alg2 UTSW 4 47,472,259 (GRCm39) missense probably damaging 0.99
R3148:Alg2 UTSW 4 47,472,259 (GRCm39) missense probably damaging 0.99
R4828:Alg2 UTSW 4 47,471,563 (GRCm39) missense probably benign 0.31
R4937:Alg2 UTSW 4 47,473,974 (GRCm39) missense probably benign 0.01
R5529:Alg2 UTSW 4 47,472,101 (GRCm39) missense probably damaging 0.99
R6523:Alg2 UTSW 4 47,472,071 (GRCm39) missense possibly damaging 0.50
R7007:Alg2 UTSW 4 47,471,881 (GRCm39) missense probably benign 0.31
R7990:Alg2 UTSW 4 47,472,308 (GRCm39) missense probably damaging 1.00
R8361:Alg2 UTSW 4 47,471,848 (GRCm39) missense probably damaging 1.00
R8678:Alg2 UTSW 4 47,474,108 (GRCm39) missense probably damaging 1.00
R8885:Alg2 UTSW 4 47,474,159 (GRCm39) missense probably benign 0.00
R9248:Alg2 UTSW 4 47,474,001 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06