Incidental Mutation 'R0211:Ddost'
ID66402
Institutional Source Beutler Lab
Gene Symbol Ddost
Ensembl Gene ENSMUSG00000028757
Gene Namedolichyl-di-phosphooligosaccharide-protein glycotransferase
Synonyms
MMRRC Submission 038462-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0211 (G1)
Quality Score102
Status Not validated
Chromosome4
Chromosomal Location138304730-138312628 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138309602 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 159 (V159M)
Ref Sequence ENSEMBL: ENSMUSP00000030538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030536] [ENSMUST00000030538] [ENSMUST00000105816] [ENSMUST00000105817]
Predicted Effect probably benign
Transcript: ENSMUST00000030536
SMART Domains Protein: ENSMUSP00000030536
Gene: ENSMUSG00000028756

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 30 43 N/A INTRINSIC
low complexity region 88 99 N/A INTRINSIC
low complexity region 105 110 N/A INTRINSIC
Pfam:Pkinase 257 508 2.9e-24 PFAM
Pfam:Pkinase_Tyr 306 506 4e-15 PFAM
low complexity region 558 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000030538
AA Change: V159M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030538
Gene: ENSMUSG00000028757
AA Change: V159M

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:DDOST_48kD 32 441 4.5e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105816
SMART Domains Protein: ENSMUSP00000101442
Gene: ENSMUSG00000028756

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 94 4.6e-6 PFAM
Pfam:Pkinase 1 96 8.4e-9 PFAM
low complexity region 146 161 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105817
SMART Domains Protein: ENSMUSP00000101443
Gene: ENSMUSG00000028756

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
low complexity region 75 80 N/A INTRINSIC
Pfam:Pkinase 231 478 7.9e-29 PFAM
Pfam:Pkinase_Tyr 276 476 1.2e-15 PFAM
low complexity region 528 543 N/A INTRINSIC
Coding Region Coverage
  • 1x: 96.9%
  • 3x: 92.1%
  • 10x: 58.4%
  • 20x: 15.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,216,096 L1401P possibly damaging Het
Adgrf1 T C 17: 43,296,690 L100P probably damaging Het
Akt1 T C 12: 112,655,142 T407A probably damaging Het
Arnt T A 3: 95,476,149 M242K probably damaging Het
Atad5 T G 11: 80,095,647 V520G probably benign Het
Cbr2 T A 11: 120,730,788 I88L probably benign Het
Ccdc51 T C 9: 109,089,373 M10T probably benign Het
Cryba1 T A 11: 77,718,867 Y179F probably damaging Het
Dcaf4 T A 12: 83,535,961 F277I probably damaging Het
Dnase2a A G 8: 84,908,788 probably benign Het
Efcc1 A T 6: 87,749,154 T312S probably benign Het
Ermard A T 17: 15,021,943 Q127L probably damaging Het
Ggnbp2 G A 11: 84,840,313 T325M probably damaging Het
Gm8909 T C 17: 36,168,007 T117A probably damaging Het
Ift74 C T 4: 94,679,255 T395I probably benign Het
Irf8 A T 8: 120,739,975 D53V probably damaging Het
Itgad A G 7: 128,204,641 Y69C probably damaging Het
Lpin3 A T 2: 160,898,681 D382V probably damaging Het
Map4k3 C T 17: 80,644,841 A179T probably damaging Het
Nck1 A T 9: 100,497,767 W144R probably damaging Het
Nin T G 12: 70,014,875 T2072P probably damaging Het
Nop2 T G 6: 125,141,344 L529R probably damaging Het
Nynrin T C 14: 55,871,798 F1454S probably benign Het
Olfr1062 A C 2: 86,423,107 S190A probably damaging Het
Olfr1328 T A 4: 118,934,270 M191L probably benign Het
Olfr1453 T C 19: 13,028,282 T16A possibly damaging Het
Pcdhb10 A T 18: 37,414,006 M712L probably benign Het
Pcx C T 19: 4,620,199 A935V probably damaging Het
Pdzd7 A G 19: 45,033,667 V514A possibly damaging Het
Plxnb1 T A 9: 109,103,663 Y568* probably null Het
Rgr T G 14: 37,046,968 T37P probably damaging Het
Rpusd2 A G 2: 119,038,412 S439G probably benign Het
Slc6a21 A C 7: 45,288,243 T653P possibly damaging Het
Spdef C T 17: 27,714,920 R309H probably damaging Het
Srp68 A T 11: 116,265,551 Y84N probably damaging Het
Tmem63b T A 17: 45,661,913 M652L probably benign Het
Tnk1 A G 11: 69,855,181 V306A probably damaging Het
Tnnc2 T A 2: 164,777,484 I147F probably damaging Het
Tyw3 T C 3: 154,587,495 N181S probably damaging Het
Unc79 T A 12: 103,072,792 S682T probably benign Het
Wasl G T 6: 24,633,893 A124E probably damaging Het
Zfp287 T C 11: 62,714,917 H388R probably damaging Het
Zfp335 T C 2: 164,907,692 T262A probably damaging Het
Zfp457 C G 13: 67,293,147 G359R probably benign Het
Zfp872 T A 9: 22,200,173 I316N probably damaging Het
Other mutations in Ddost
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01405:Ddost APN 4 138311703 missense probably damaging 1.00
IGL01636:Ddost APN 4 138309396 missense possibly damaging 0.94
R0211:Ddost UTSW 4 138309602 missense probably damaging 1.00
R0310:Ddost UTSW 4 138310611 missense probably benign 0.25
R0411:Ddost UTSW 4 138309653 missense probably benign 0.00
R0452:Ddost UTSW 4 138310188 missense possibly damaging 0.80
R0521:Ddost UTSW 4 138310735 missense probably benign
R5336:Ddost UTSW 4 138309430 missense possibly damaging 0.81
X0011:Ddost UTSW 4 138309397 missense probably damaging 1.00
Predicted Primers
Posted On2013-08-19