Incidental Mutation 'IGL01121:Alg3'
ID52946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg3
Ensembl Gene ENSMUSG00000033809
Gene Nameasparagine-linked glycosylation 3 (alpha-1,3-mannosyltransferase)
SynonymsD16Ertd36e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.230) question?
Stock #IGL01121
Quality Score
Status
Chromosome16
Chromosomal Location20605374-20611735 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20610647 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 31 (E31G)
Ref Sequence ENSEMBL: ENSMUSP00000123378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000079600] [ENSMUST00000115522] [ENSMUST00000119224] [ENSMUST00000120394] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000231362] [ENSMUST00000231386] [ENSMUST00000231387] [ENSMUST00000231471] [ENSMUST00000231904] [ENSMUST00000231531] [ENSMUST00000232458] [ENSMUST00000231749] [ENSMUST00000232319] [ENSMUST00000232451]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045918
AA Change: E31G

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809
AA Change: E31G

DomainStartEndE-ValueType
Pfam:ALG3 47 406 2.5e-145 PFAM
low complexity region 407 420 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079600
SMART Domains Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293

DomainStartEndE-ValueType
Pfam:Methyltransf_11 63 158 8.5e-8 PFAM
transmembrane domain 179 201 N/A INTRINSIC
Pfam:Peptidase_M13_N 233 618 1.2e-124 PFAM
Pfam:Peptidase_M13 677 880 1.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115522
SMART Domains Protein: ENSMUSP00000111184
Gene: ENSMUSG00000115219

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 176 5.9e-11 PFAM
Pfam:Methyltransf_31 58 208 1.5e-10 PFAM
Pfam:Methyltransf_25 62 169 1.4e-7 PFAM
Pfam:Methyltransf_12 63 171 4.5e-9 PFAM
Pfam:Methyltransf_11 63 173 2.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119224
SMART Domains Protein: ENSMUSP00000113772
Gene: ENSMUSG00000115219

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 166 1.9e-8 PFAM
Pfam:Methyltransf_25 62 142 1.7e-7 PFAM
Pfam:Methyltransf_11 63 164 5.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120394
SMART Domains Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293

DomainStartEndE-ValueType
Pfam:Methyltransf_18 58 163 1.2e-8 PFAM
Pfam:Methyltransf_11 63 163 1.7e-9 PFAM
transmembrane domain 208 230 N/A INTRINSIC
Pfam:Peptidase_M13_N 262 647 5e-109 PFAM
Pfam:Peptidase_M13 706 909 9.4e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123774
AA Change: E31G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809
AA Change: E31G

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000127454
SMART Domains Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:ALG3 51 118 2.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000147867
AA Change: E31G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231362
AA Change: E31G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231386
AA Change: E31G

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000231387
Predicted Effect possibly damaging
Transcript: ENSMUST00000231471
AA Change: E31G

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231904
AA Change: E31G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000231531
Predicted Effect probably benign
Transcript: ENSMUST00000232458
Predicted Effect probably benign
Transcript: ENSMUST00000231749
Predicted Effect probably benign
Transcript: ENSMUST00000232319
Predicted Effect probably benign
Transcript: ENSMUST00000232451
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 ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,755,148 noncoding transcript Het
4930432E11Rik A T 7: 29,574,001 noncoding transcript Het
Arhgap29 A G 3: 122,009,863 E764G probably damaging Het
Atp5j2 C A 5: 145,184,568 V68L probably benign Het
Birc6 T A 17: 74,631,038 I2645K probably benign Het
Capn11 A G 17: 45,639,132 S369P probably benign Het
Car4 A T 11: 84,964,346 probably null Het
Ccdc185 C T 1: 182,748,657 V156I probably benign Het
Cpsf2 G T 12: 101,988,706 E245D probably damaging Het
Dnah11 T C 12: 118,050,695 D2019G probably benign Het
Dscc1 A G 15: 55,082,325 probably benign Het
Dzip3 T C 16: 48,944,881 D490G probably benign Het
E2f8 G A 7: 48,867,821 Q745* probably null Het
Fat3 T A 9: 15,998,401 T2102S probably benign Het
Fgf7 C T 2: 126,088,232 probably benign Het
Fstl4 T C 11: 52,814,637 F47L probably benign Het
Gm15097 A T X: 149,804,328 R129S possibly damaging Het
Gm4297 C T X: 24,552,615 D200N probably benign Het
Itgb5 G T 16: 33,919,989 D490Y probably benign Het
Kansl1 A G 11: 104,335,596 S912P probably benign Het
Kcnq3 A T 15: 66,005,977 probably benign Het
Kctd6 A G 14: 8,222,656 H166R possibly damaging Het
Kel T C 6: 41,702,409 D140G probably benign Het
Lrif1 C A 3: 106,735,664 S177* probably null Het
Lrp1 A T 10: 127,583,853 C962* probably null Het
Lypd5 A T 7: 24,351,551 Y29F probably benign Het
Mmrn1 A G 6: 60,975,944 D403G possibly damaging Het
Nhsl1 T G 10: 18,511,710 V244G probably damaging Het
Olfr781 T C 10: 129,332,935 I18T probably benign Het
Ptprd A T 4: 75,954,201 probably benign Het
Rcan2 A T 17: 44,017,884 I69L probably damaging Het
Rprd2 A G 3: 95,776,550 L373P probably damaging Het
Slc10a4 T C 5: 73,007,586 C174R probably damaging Het
Tas2r134 C T 2: 51,627,989 T160I probably damaging Het
Tbc1d19 T A 5: 53,897,062 L464* probably null Het
Tmem45a2 C T 16: 57,040,790 D225N possibly damaging Het
Unc79 G A 12: 103,165,631 C2139Y probably damaging Het
Vmn2r101 G T 17: 19,589,674 G241C probably damaging Het
Vmn2r91 T C 17: 18,136,504 V811A possibly damaging Het
Wdr11 T C 7: 129,628,022 Y844H probably benign Het
Wdr70 T C 15: 7,873,174 K656E possibly damaging Het
Zfp579 C A 7: 4,993,247 C555F possibly damaging Het
Other mutations in Alg3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Alg3 APN 16 20607858 missense probably damaging 0.96
IGL02121:Alg3 APN 16 20606535 missense possibly damaging 0.55
R5487:Alg3 UTSW 16 20607780 missense probably damaging 1.00
R6183:Alg3 UTSW 16 20610641 missense probably benign 0.02
R6655:Alg3 UTSW 16 20609026 missense probably benign 0.22
R6831:Alg3 UTSW 16 20608747 missense probably damaging 0.98
R6890:Alg3 UTSW 16 20605986 missense possibly damaging 0.91
R7122:Alg3 UTSW 16 20607852 missense probably damaging 1.00
R7210:Alg3 UTSW 16 20605894 missense unknown
Posted On2013-06-21