Incidental Mutation 'RF022:Dpagt1'
ID 603949
Institutional Source Beutler Lab
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 # RF022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44237316-44245197 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44243262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 266 (V266L)
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 possibly damaging
Transcript: ENSMUST00000054708
AA Change: V266L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123
AA Change: V266L

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 probably benign
Transcript: ENSMUST00000215050
Predicted Effect probably benign
Transcript: ENSMUST00000215248
Predicted Effect probably benign
Transcript: ENSMUST00000216658
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik GTACT GTACTACT 12: 110,634,877 (GRCm39) probably null Het
Acap3 CCTGGGCTGCTG CCTGGGCTGCTGCATACTGGGCTGCTG 4: 155,989,553 (GRCm39) probably benign Het
Adam6b A T 12: 113,455,289 (GRCm39) E702V possibly damaging Het
Arpc3 A G 5: 122,538,489 (GRCm39) T7A probably benign Het
Bcl3 G A 7: 19,542,966 (GRCm39) P393L probably damaging Het
Ceacam9 A G 7: 16,459,304 (GRCm39) D201G possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Clgn A G 8: 84,152,235 (GRCm39) K579R probably damaging Het
Cntnap2 C T 6: 46,998,599 (GRCm39) R884W probably damaging Het
Col6a4 A T 9: 105,954,207 (GRCm39) D377E probably damaging Het
Cort GCCCACTCGT G 4: 149,209,869 (GRCm39) probably benign Het
D5Ertd579e A C 5: 36,772,006 (GRCm39) I796M probably damaging Het
Dmkn GGTGGAAGTGGTGGAAG GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG 7: 30,466,600 (GRCm39) probably benign Het
Ebf3 C A 7: 136,915,671 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Flywch1 CACTCCTGGTGT CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT 17: 23,981,141 (GRCm39) probably null Het
Gab3 CTT CTTATT X: 74,043,600 (GRCm39) probably null Het
Golga4 A G 9: 118,387,057 (GRCm39) D1393G probably damaging Het
Gpc5 G A 14: 115,789,688 (GRCm39) V521I probably damaging Het
Grik1 A T 16: 87,693,225 (GRCm39) N859K Het
Insrr G A 3: 87,711,792 (GRCm39) A511T possibly damaging Het
Isx A G 8: 75,600,474 (GRCm39) D69G probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Lkaaear1 CAGCTCCAG CAGCTCCAGGTCGAGCTCCAG 2: 181,339,370 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Magel2 A G 7: 62,029,841 (GRCm39) E915G unknown Het
Maml3 A G 3: 51,764,083 (GRCm39) S294P probably damaging Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mef2d A T 3: 88,075,574 (GRCm39) T486S probably benign Het
Ms4a8a A G 19: 11,053,689 (GRCm39) V139A possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2z8 T G 8: 72,812,468 (GRCm39) *315G probably null Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Ppfibp2 T C 7: 107,296,817 (GRCm39) L177P probably damaging Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Ptprh A G 7: 4,552,367 (GRCm39) F966L probably benign Het
Rad17 A G 13: 100,773,593 (GRCm39) L132S probably damaging Het
Raph1 GG GGGGG 1: 60,528,426 (GRCm39) probably benign Het
Rnf126 AGGACGAGG AG 10: 79,594,977 (GRCm39) probably null Het
Rwdd2b C T 16: 87,233,558 (GRCm39) A181T probably benign Het
Sh3pxd2b GCCTGT GCCTGTTCCTGT 11: 32,373,054 (GRCm39) probably benign Het
Six3 CGG CGGTGG 17: 85,928,784 (GRCm39) probably benign Het
Sla C T 15: 66,654,593 (GRCm39) G231D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,807 (GRCm39) probably benign Het
Tfeb GCA GCAACA 17: 48,097,019 (GRCm39) probably benign Het
Tgm5 T A 2: 120,902,092 (GRCm39) E192D probably damaging Het
Tmem123 A G 9: 7,791,414 (GRCm39) Y171C probably damaging Het
Tnrc18 G A 5: 142,759,385 (GRCm39) A999V Het
Triobp C T 15: 78,858,482 (GRCm39) P1361L probably benign Het
Ubac1 A T 2: 25,895,470 (GRCm39) W328R probably damaging Het
Ube2q1 A G 3: 89,688,200 (GRCm39) N324S probably benign Het
Zcchc2 T C 1: 105,939,472 (GRCm39) I407T possibly damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG 6: 125,013,434 (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
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
Z1176:Dpagt1 UTSW 9 44,240,422 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTGGGGCCTATAGAGTTTC -3'
(R):5'- ATAGGAAATGCAAGTTGGCTTTAGC -3'

Sequencing Primer
(F):5'- GGGCCTATAGAGTTTCTGGAAC -3'
(R):5'- GCAAGTTGGCTTTAGCTATCCCAAG -3'
Posted On 2019-12-04