Incidental Mutation 'IGL02066:Dpagt1'
ID 185651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpagt1
Ensembl Gene ENSMUSG00000032123
Gene Name dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Synonyms Gnpta, Dpagt2, GPT
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02066
Quality Score
Status
Chromosome 9
Chromosomal Location 44237316-44245197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44243203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 246 (Y246C)
Ref Sequence ENSEMBL: ENSMUSP00000056282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052686] [ENSMUST00000054708] [ENSMUST00000077353] [ENSMUST00000097558] [ENSMUST00000215050] [ENSMUST00000215248]
AlphaFold P42867
Predicted Effect probably benign
Transcript: ENSMUST00000052686
SMART Domains Protein: ENSMUSP00000051432
Gene: ENSMUSG00000049932

DomainStartEndE-ValueType
H2A 3 123 1.64e-81 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000054708
AA Change: Y246C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123
AA Change: Y246C

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
transmembrane domain 60 82 N/A INTRINSIC
Pfam:Glycos_transf_4 100 272 1.1e-38 PFAM
transmembrane domain 277 299 N/A INTRINSIC
transmembrane domain 381 403 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077353
SMART Domains Protein: ENSMUSP00000076575
Gene: ENSMUSG00000032126

DomainStartEndE-ValueType
Pfam:Porphobil_deam 21 233 1.7e-79 PFAM
Pfam:Porphobil_deamC 244 323 6.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097558
SMART Domains Protein: ENSMUSP00000095166
Gene: ENSMUSG00000032126

DomainStartEndE-ValueType
Pfam:Porphobil_deam 3 219 3.9e-95 PFAM
Pfam:Porphobil_deamC 227 327 4.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213709
Predicted Effect probably benign
Transcript: ENSMUST00000215050
Predicted Effect probably benign
Transcript: ENSMUST00000216658
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216327
Predicted Effect probably benign
Transcript: ENSMUST00000215248
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene display an embryonic lethal phenotype due to widespread cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,626,854 (GRCm39) C569S probably damaging Het
Adck5 T C 15: 76,479,406 (GRCm39) V487A probably damaging Het
Agfg1 A G 1: 82,871,279 (GRCm39) T483A probably damaging Het
Akr1c12 T C 13: 4,326,236 (GRCm39) T82A probably damaging Het
Ano2 T A 6: 125,667,702 (GRCm39) L6Q probably benign Het
Anp32a G A 9: 62,284,615 (GRCm39) probably benign Het
Bltp2 G A 11: 78,164,058 (GRCm39) R1133H probably damaging Het
Cep250 C A 2: 155,818,441 (GRCm39) A871D probably damaging Het
Chl1 T C 6: 103,675,185 (GRCm39) V624A probably benign Het
Clasp1 G A 1: 118,492,990 (GRCm39) probably null Het
Clca3a2 T G 3: 144,519,216 (GRCm39) D320A probably benign Het
Cnot9 A G 1: 74,566,212 (GRCm39) Q201R possibly damaging Het
Cox4i2 C T 2: 152,602,602 (GRCm39) R99C probably damaging Het
Csmd1 A T 8: 15,976,594 (GRCm39) F2875I probably damaging Het
Dsc1 A G 18: 20,241,860 (GRCm39) probably benign Het
Eef1d G A 15: 75,768,704 (GRCm39) T464I probably benign Het
Efna2 C T 10: 80,024,500 (GRCm39) probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Etaa1 C A 11: 17,896,687 (GRCm39) V477L probably benign Het
Fam83d C T 2: 158,627,793 (GRCm39) T494M probably benign Het
Fbxo24 C T 5: 137,611,132 (GRCm39) V553M probably damaging Het
Gal3st2 A G 1: 93,801,379 (GRCm39) T12A probably damaging Het
Gba2 G A 4: 43,570,175 (GRCm39) T373I probably benign Het
Kitl T A 10: 99,912,744 (GRCm39) C154S probably damaging Het
Lrp1b A T 2: 41,001,091 (GRCm39) C2044* probably null Het
Lrp6 G T 6: 134,427,900 (GRCm39) S1564* probably null Het
Manea A T 4: 26,340,965 (GRCm39) probably benign Het
Myt1 T C 2: 181,438,982 (GRCm39) L168P probably damaging Het
Notch1 T C 2: 26,350,408 (GRCm39) E2244G possibly damaging Het
Nsd3 T G 8: 26,203,515 (GRCm39) V1343G probably damaging Het
Nup155 T C 15: 8,187,250 (GRCm39) probably benign Het
Obox6 T C 7: 15,568,628 (GRCm39) I83V probably benign Het
Or12k5 A T 2: 36,895,321 (GRCm39) F102I probably damaging Het
Or13a24 A T 7: 140,154,413 (GRCm39) T116S possibly damaging Het
Pdgfra T C 5: 75,331,241 (GRCm39) V282A possibly damaging Het
Pkd1l2 A G 8: 117,736,303 (GRCm39) probably benign Het
Pmfbp1 A T 8: 110,268,365 (GRCm39) I971F possibly damaging Het
Ppp6c T C 2: 39,089,683 (GRCm39) T199A probably benign Het
Ptpra A G 2: 30,333,308 (GRCm39) T3A possibly damaging Het
Rb1 A T 14: 73,435,974 (GRCm39) M897K probably benign Het
Rptn A C 3: 93,304,436 (GRCm39) S590R probably benign Het
Rreb1 A G 13: 38,115,482 (GRCm39) D947G probably benign Het
Samd9l T C 6: 3,376,575 (GRCm39) T229A probably damaging Het
Slc5a9 A T 4: 111,744,719 (GRCm39) M423K probably damaging Het
Slc6a12 T A 6: 121,329,015 (GRCm39) I111N probably damaging Het
Slc6a15 T A 10: 103,252,519 (GRCm39) L561I probably damaging Het
Spag5 A G 11: 78,195,358 (GRCm39) N222D probably benign Het
Spp2 G A 1: 88,344,965 (GRCm39) M54I probably benign Het
Sptbn4 T C 7: 27,063,940 (GRCm39) E847G possibly damaging Het
Timd2 T A 11: 46,569,050 (GRCm39) N203Y probably damaging Het
Togaram1 G T 12: 65,030,195 (GRCm39) D1000Y probably damaging Het
Usp47 C T 7: 111,663,604 (GRCm39) R258C probably damaging Het
Uts2r A C 11: 121,051,523 (GRCm39) D129A probably damaging Het
Vmn2r102 G A 17: 19,914,191 (GRCm39) M585I probably benign Het
Vmn2r77 A T 7: 86,452,836 (GRCm39) R518* probably null Het
Wdfy4 C T 14: 32,871,523 (GRCm39) R296K probably benign Het
Xirp2 A T 2: 67,356,415 (GRCm39) K3725N probably benign Het
Xntrpc T C 7: 101,727,036 (GRCm39) S142P probably benign Het
Zfat T C 15: 68,052,678 (GRCm39) H372R probably damaging Het
Other mutations in Dpagt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Dpagt1 APN 9 44,243,949 (GRCm39) critical splice donor site probably null
IGL01722:Dpagt1 APN 9 44,238,899 (GRCm39) missense possibly damaging 0.50
R3103:Dpagt1 UTSW 9 44,239,292 (GRCm39) missense probably benign 0.00
R5585:Dpagt1 UTSW 9 44,240,439 (GRCm39) splice site probably null
R6481:Dpagt1 UTSW 9 44,242,487 (GRCm39) missense probably damaging 1.00
R7108:Dpagt1 UTSW 9 44,238,318 (GRCm39) intron probably benign
R7390:Dpagt1 UTSW 9 44,243,319 (GRCm39) missense probably benign 0.02
R7431:Dpagt1 UTSW 9 44,237,384 (GRCm39) nonsense probably null
R8415:Dpagt1 UTSW 9 44,238,482 (GRCm39) missense possibly damaging 0.91
R8477:Dpagt1 UTSW 9 44,243,390 (GRCm39) critical splice donor site probably null
R8975:Dpagt1 UTSW 9 44,237,446 (GRCm39) unclassified probably benign
RF022:Dpagt1 UTSW 9 44,243,262 (GRCm39) missense possibly damaging 0.95
Z1176:Dpagt1 UTSW 9 44,240,422 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07