Incidental Mutation 'IGL02576:Alg1'
ID299197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alg1
Ensembl Gene ENSMUSG00000039427
Gene Nameasparagine-linked glycosylation 1 (beta-1,4-mannosyltransferase)
SynonymsHMAT1, HMT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL02576
Quality Score
Status
Chromosome16
Chromosomal Location5233621-5244912 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5244529 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 425 (E425G)
Ref Sequence ENSEMBL: ENSMUSP00000046534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049207] [ENSMUST00000064635] [ENSMUST00000100196] [ENSMUST00000139584]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049207
AA Change: E425G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427
AA Change: E425G

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
Pfam:Glycos_transf_1 246 422 8e-14 PFAM
Pfam:Glyco_trans_1_4 250 400 1.4e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064635
SMART Domains Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544

DomainStartEndE-ValueType
Pfam:FAM86 6 99 2.7e-42 PFAM
Pfam:Methyltransf_16 119 299 2.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100196
AA Change: E451G

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427
AA Change: E451G

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
Pfam:Glycos_transf_1 270 447 2.4e-13 PFAM
Pfam:Glyco_trans_1_4 276 426 1.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132225
Predicted Effect probably benign
Transcript: ENSMUST00000139584
SMART Domains Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544

DomainStartEndE-ValueType
Pfam:FAM86 1 100 2.7e-62 PFAM
Pfam:Methyltransf_16 119 299 2e-23 PFAM
low complexity region 311 322 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230238
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,433,455 I232M probably benign Het
Ace G A 11: 105,974,111 V537M probably damaging Het
Cacng3 G A 7: 122,671,910 S46N probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap65 A G 1: 74,903,458 S1646P probably damaging Het
Col20a1 C T 2: 181,013,405 Q1152* probably null Het
D130043K22Rik A C 13: 24,856,870 T92P possibly damaging Het
Drc3 T C 11: 60,370,551 M176T probably benign Het
Esyt3 T C 9: 99,315,225 R851G probably benign Het
Fbxo43 A G 15: 36,152,175 V496A probably benign Het
Fut4 T A 9: 14,751,405 M198L probably damaging Het
Galt C T 4: 41,755,953 probably benign Het
Glipr1l1 A G 10: 112,060,319 K4E possibly damaging Het
Gm9945 A G 11: 53,480,351 probably benign Het
Hspa12a A C 19: 58,799,410 I660R possibly damaging Het
Htr3b T C 9: 48,945,504 I225V possibly damaging Het
Igf2r T C 17: 12,748,763 D23G possibly damaging Het
Igsf5 A G 16: 96,386,581 I158V probably benign Het
Itgae A G 11: 73,118,505 Y505C possibly damaging Het
Kif16b A G 2: 142,862,545 probably benign Het
Kif26b T C 1: 178,916,347 V1336A probably benign Het
Kmt2d A G 15: 98,864,120 S450P unknown Het
Lexm T C 4: 106,591,628 D411G possibly damaging Het
Lhfpl2 G A 13: 94,174,226 M1I probably null Het
Lig4 A G 8: 9,971,116 I888T probably damaging Het
Msh4 G A 3: 153,867,746 T563M probably damaging Het
Muc5ac C T 7: 141,817,044 A3238V probably benign Het
Myo15b A G 11: 115,890,053 S1246G probably null Het
Olfr193 T C 16: 59,109,771 I280V probably benign Het
Pecam1 G A 11: 106,671,774 T599M probably damaging Het
Phf3 G A 1: 30,830,036 P644S probably benign Het
Pkd1l1 A C 11: 8,844,560 F2317C possibly damaging Het
Prdm4 A G 10: 85,900,937 M613T possibly damaging Het
Prim2 A T 1: 33,484,717 I371N probably damaging Het
Ptprs T C 17: 56,414,958 D1316G probably damaging Het
Rnf19b C T 4: 129,073,522 R285* probably null Het
Secisbp2 A G 13: 51,670,858 N381D possibly damaging Het
Slc28a2 T C 2: 122,458,171 I586T probably damaging Het
Spef1 T C 2: 131,174,642 H11R possibly damaging Het
Taar4 T C 10: 23,961,011 L173S probably damaging Het
Tas2r123 T C 6: 132,847,740 F200S possibly damaging Het
Tex16 T A X: 112,118,956 L384Q probably benign Het
Tox2 A G 2: 163,276,180 Q168R probably damaging Het
Trim5 T A 7: 104,278,417 E172V probably damaging Het
Txndc11 G A 16: 11,075,017 probably benign Het
Vmn1r232 T A 17: 20,913,913 I142F probably benign Het
Zdhhc25 A T 15: 88,601,269 H269L probably benign Het
Znrf4 T C 17: 56,512,199 D36G probably damaging Het
Other mutations in Alg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Alg1 APN 16 5244519 missense probably benign 0.27
IGL02536:Alg1 APN 16 5239159 nonsense probably null
IGL02961:Alg1 APN 16 5234997 missense probably benign 0.45
FR4976:Alg1 UTSW 16 5244561 frame shift probably null
R1378:Alg1 UTSW 16 5243716 missense probably damaging 1.00
R1797:Alg1 UTSW 16 5239143 missense probably benign 0.00
R3898:Alg1 UTSW 16 5236389 missense possibly damaging 0.90
R5589:Alg1 UTSW 16 5235222 missense probably benign 0.11
R5716:Alg1 UTSW 16 5239956 missense probably damaging 0.96
Z1177:Alg1 UTSW 16 5239967 missense not run
Posted On2015-04-16