Incidental Mutation 'R5585:Dpagt1'
ID 438661
Institutional Source Beutler Lab
Gene Symbol Dpagt1
Ensembl Gene ENSMUSG00000032123
Gene Name dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Synonyms Gnpta, Dpagt2, GPT
MMRRC Submission 043139-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5585 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44237316-44245197 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 44240439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054708] [ENSMUST00000215050] [ENSMUST00000215248]
AlphaFold P42867
Predicted Effect probably null
Transcript: ENSMUST00000054708
SMART Domains Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123

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 noncoding transcript
Transcript: ENSMUST00000213461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213709
Predicted Effect probably benign
Transcript: ENSMUST00000215050
Predicted Effect probably benign
Transcript: ENSMUST00000215248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217225
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik A T 17: 46,044,670 (GRCm39) I17N unknown Het
4932414N04Rik A G 2: 68,571,770 (GRCm39) T549A probably benign Het
9330159F19Rik C A 10: 29,101,271 (GRCm39) S548Y possibly damaging Het
Aanat A G 11: 116,487,799 (GRCm39) Y166C probably damaging Het
Adra2a G T 19: 54,034,670 (GRCm39) A9S probably benign Het
Ap4m1 A G 5: 138,170,502 (GRCm39) Y17C probably damaging Het
Arhgap33 T G 7: 30,223,260 (GRCm39) M891L probably benign Het
Calm5 A G 13: 3,904,372 (GRCm39) D22G possibly damaging Het
Ccdc15 C T 9: 37,188,699 (GRCm39) R795H probably benign Het
Cngb1 T A 8: 95,989,767 (GRCm39) I323F probably damaging Het
Cyp26b1 A G 6: 84,554,171 (GRCm39) F74L probably damaging Het
Ercc8 C T 13: 108,312,123 (GRCm39) P196S probably damaging Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Hfm1 G A 5: 107,059,305 (GRCm39) S239L probably benign Het
Hgf A G 5: 16,769,799 (GRCm39) D91G possibly damaging Het
Lefty2 T A 1: 180,720,828 (GRCm39) V27D possibly damaging Het
Lrp2 G A 2: 69,294,968 (GRCm39) T3450I possibly damaging Het
Lrrc38 A G 4: 143,076,961 (GRCm39) I75V probably damaging Het
Ncor2 C A 5: 125,144,975 (GRCm39) E556* probably null Het
Nedd9 A G 13: 41,469,950 (GRCm39) L401P probably damaging Het
Nfatc4 T C 14: 56,064,212 (GRCm39) L163P probably damaging Het
Nln T C 13: 104,161,569 (GRCm39) N667S possibly damaging Het
Or5w20 A G 2: 87,727,019 (GRCm39) T159A possibly damaging Het
Pnpla8 T C 12: 44,329,847 (GRCm39) I133T probably benign Het
Psma1 C T 7: 113,873,302 (GRCm39) G12S probably damaging Het
Psmd3 G A 11: 98,573,707 (GRCm39) G51D possibly damaging Het
Ptprb A G 10: 116,216,759 (GRCm39) Q1959R probably damaging Het
Rhbdf1 A G 11: 32,160,222 (GRCm39) probably null Het
Rnf167 T C 11: 70,540,308 (GRCm39) V110A probably damaging Het
Rrp9 C T 9: 106,362,525 (GRCm39) S470F probably benign Het
Rtn3 G A 19: 7,435,560 (GRCm39) P125L probably benign Het
Scube1 C T 15: 83,561,124 (GRCm39) C156Y probably damaging Het
Tgm2 A T 2: 157,973,375 (GRCm39) Y245* probably null Het
Timeless T C 10: 128,076,112 (GRCm39) I68T probably damaging Het
Ttn A G 2: 76,645,054 (GRCm39) S12934P probably damaging Het
Vwa5b2 T A 16: 20,413,428 (GRCm39) Y214* probably null Het
Yars2 T A 16: 16,122,484 (GRCm39) N7K probably damaging Het
Zfp142 G A 1: 74,617,404 (GRCm39) Q150* probably null Het
Zfp995 C T 17: 22,106,339 (GRCm39) probably benign 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
IGL02066:Dpagt1 APN 9 44,243,203 (GRCm39) missense probably damaging 1.00
R3103:Dpagt1 UTSW 9 44,239,292 (GRCm39) missense probably benign 0.00
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
Predicted Primers PCR Primer
(F):5'- TTTGGGCCATAGCAAGCAGG -3'
(R):5'- CTAGCTATTCATGACCATCAAGC -3'

Sequencing Primer
(F):5'- ATAGGCCTGAGCTACTAGACCTTG -3'
(R):5'- GCTATTCATGACCATCAAGCTATAC -3'
Posted On 2016-10-26