Incidental Mutation 'R3103:Dpagt1'
ID 262907
Institutional Source Beutler Lab
Gene Symbol Dpagt1
Ensembl Gene ENSMUSG00000032123
Gene Name dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Synonyms Gnpta, Dpagt2, GPT
MMRRC Submission 040577-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3103 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 44237316-44245197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44239292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 111 (I111V)
Ref Sequence ENSEMBL: ENSMUSP00000056282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054708] [ENSMUST00000215050] [ENSMUST00000215248]
AlphaFold P42867
Predicted Effect probably benign
Transcript: ENSMUST00000054708
AA Change: I111V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123
AA Change: I111V

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 A G 7: 28,310,409 (GRCm39) probably null Het
Adap2 G T 11: 80,047,859 (GRCm39) C105F probably damaging Het
Bace2 T C 16: 97,223,201 (GRCm39) probably null Het
Bpifc A G 10: 85,829,286 (GRCm39) S94P probably damaging Het
C2cd3 A G 7: 100,044,459 (GRCm39) D347G possibly damaging Het
Cad T C 5: 31,219,018 (GRCm39) V613A possibly damaging Het
Ccdc47 T C 11: 106,093,667 (GRCm39) H6R probably benign Het
Celsr3 A G 9: 108,714,338 (GRCm39) T1956A probably benign Het
Cep128 T A 12: 90,986,118 (GRCm39) D1006V probably damaging Het
Cog3 T C 14: 75,984,641 (GRCm39) probably null Het
Csmd1 C T 8: 15,967,405 (GRCm39) V3153M probably damaging Het
Ctnna2 T C 6: 77,630,127 (GRCm39) E122G possibly damaging Het
Cts8 T A 13: 61,398,772 (GRCm39) I245F probably damaging Het
Ddx27 T A 2: 166,868,166 (GRCm39) V333E probably damaging Het
Dmpk A G 7: 18,821,579 (GRCm39) Y279C probably damaging Het
Dvl2 C A 11: 69,899,695 (GRCm39) P546T possibly damaging Het
Fat4 G T 3: 38,946,089 (GRCm39) A1661S probably benign Het
Gcm1 A G 9: 77,971,734 (GRCm39) N225S probably damaging Het
Gcnt2 A T 13: 41,072,082 (GRCm39) M242L probably benign Het
Golgb1 A G 16: 36,715,211 (GRCm39) R226G probably damaging Het
Gpr63 G A 4: 25,007,353 (GRCm39) V26I probably benign Het
Grik2 A G 10: 49,116,868 (GRCm39) L631P probably damaging Het
Hapln3 T C 7: 78,771,484 (GRCm39) D135G probably benign Het
Il31ra C A 13: 112,666,885 (GRCm39) V398F probably damaging Het
Ipp G T 4: 116,381,446 (GRCm39) R315L possibly damaging Het
Kcmf1 A G 6: 72,838,830 (GRCm39) L32P probably damaging Het
Klf17 T A 4: 117,617,805 (GRCm39) Q184L possibly damaging Het
Lrp2 C T 2: 69,262,328 (GRCm39) V4442I probably benign Het
Lrrfip2 A T 9: 111,051,278 (GRCm39) E293D probably damaging Het
Oit3 A G 10: 59,274,713 (GRCm39) I29T probably damaging Het
Or1a1 G A 11: 74,086,901 (GRCm39) D191N probably benign Het
Or1j21 T C 2: 36,683,574 (GRCm39) C109R possibly damaging Het
Or51h1 T C 7: 102,308,688 (GRCm39) V220A probably benign Het
Plb1 T A 5: 32,485,373 (GRCm39) M842K possibly damaging Het
Ppt1 T C 4: 122,730,100 (GRCm39) C18R probably benign Het
Pstpip2 T C 18: 77,959,477 (GRCm39) Y191H probably damaging Het
Ryr1 C T 7: 28,774,373 (GRCm39) V2361I probably damaging Het
Serpinb11 A G 1: 107,305,338 (GRCm39) N238S probably benign Het
Skor2 A T 18: 76,946,973 (GRCm39) K232* probably null Het
Slc13a5 A T 11: 72,148,214 (GRCm39) W231R probably damaging Het
Svs5 A T 2: 164,175,313 (GRCm39) E55V probably benign Het
Tfcp2 A T 15: 100,423,481 (GRCm39) W142R probably damaging Het
Trpc2 A T 7: 101,744,441 (GRCm39) I738F possibly damaging Het
Vmn2r61 T A 7: 41,916,067 (GRCm39) S227T possibly damaging Het
Zfhx4 A G 3: 5,464,386 (GRCm39) T1540A probably damaging Het
Zfp616 A G 11: 73,962,561 (GRCm39) T74A 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
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
Predicted Primers PCR Primer
(F):5'- GAAAAGGATGCTTGTGGCC -3'
(R):5'- AAGTCCAAATGCAGGCCCAG -3'

Sequencing Primer
(F):5'- CCATAGAGACAGGAATTCTTGGACTG -3'
(R):5'- TGCAGGCCCAGAATCCAG -3'
Posted On 2015-02-05