Incidental Mutation 'IGL00156:Dpm1'
ID1816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpm1
Ensembl Gene ENSMUSG00000078919
Gene Namedolichol-phosphate (beta-D) mannosyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.326) question?
Stock #IGL00156
Quality Score
Status
Chromosome2
Chromosomal Location168209048-168230591 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 168210575 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 247 (V247A)
Ref Sequence ENSEMBL: ENSMUSP00000118776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057793] [ENSMUST00000088001] [ENSMUST00000109193] [ENSMUST00000138667] [ENSMUST00000154111]
Predicted Effect probably benign
Transcript: ENSMUST00000057793
SMART Domains Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149

DomainStartEndE-ValueType
ZnF_C2H2 74 97 6.57e0 SMART
ZnF_C2H2 107 129 1.77e1 SMART
low complexity region 130 141 N/A INTRINSIC
ZnF_C2H2 165 188 1.29e1 SMART
ZnF_C2H2 221 244 1.4e1 SMART
low complexity region 423 437 N/A INTRINSIC
ZnF_C2H2 446 468 8.62e1 SMART
ZnF_C2H2 488 509 2.54e1 SMART
ZnF_C2H2 511 534 1.03e-2 SMART
low complexity region 582 596 N/A INTRINSIC
ZnF_C2H2 621 646 1.27e2 SMART
HOX 756 817 2.95e-6 SMART
low complexity region 957 970 N/A INTRINSIC
low complexity region 1012 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000088001
SMART Domains Protein: ENSMUSP00000085316
Gene: ENSMUSG00000051149

DomainStartEndE-ValueType
ZnF_C2H2 74 97 6.57e0 SMART
ZnF_C2H2 107 129 1.77e1 SMART
low complexity region 130 141 N/A INTRINSIC
ZnF_C2H2 165 188 1.29e1 SMART
ZnF_C2H2 221 244 1.4e1 SMART
low complexity region 423 437 N/A INTRINSIC
ZnF_C2H2 446 468 8.62e1 SMART
ZnF_C2H2 488 509 2.54e1 SMART
ZnF_C2H2 511 534 1.03e-2 SMART
low complexity region 582 596 N/A INTRINSIC
ZnF_C2H2 621 646 1.27e2 SMART
HOX 756 817 2.95e-6 SMART
low complexity region 957 970 N/A INTRINSIC
low complexity region 1012 1023 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099072
SMART Domains Protein: ENSMUSP00000096671
Gene: ENSMUSG00000078919

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 16 118 1.8e-11 PFAM
Pfam:Glyco_tranf_2_2 20 119 1.3e-8 PFAM
Pfam:Glycos_transf_2 20 119 6.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109193
AA Change: V195A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104816
Gene: ENSMUSG00000078919
AA Change: V195A

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_2 2 101 1.2e-8 PFAM
Pfam:Glycos_transf_2 2 147 7.8e-36 PFAM
Pfam:Glyco_tranf_2_3 2 187 1.2e-11 PFAM
Pfam:Glyco_transf_21 34 148 1.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136582
Predicted Effect probably benign
Transcript: ENSMUST00000138667
AA Change: V247A

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752
AA Change: V247A

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 24 240 1.1e-13 PFAM
Pfam:Glyco_tranf_2_2 28 153 8.4e-10 PFAM
Pfam:Glycos_transf_2 28 199 3.8e-40 PFAM
Pfam:Glyco_transf_21 87 200 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153258
Predicted Effect probably benign
Transcript: ENSMUST00000154111
AA Change: V247A

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118776
Gene: ENSMUSG00000078919
AA Change: V247A

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 24 241 3.2e-13 PFAM
Pfam:Glyco_tranf_2_2 28 153 7.6e-10 PFAM
Pfam:Glycos_transf_2 28 199 8.1e-41 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,062,704 probably null Het
Adamts19 T A 18: 59,024,465 V943E probably damaging Het
C530025M09Rik C A 2: 149,830,726 probably benign Het
Cep192 T G 18: 67,820,336 W475G probably damaging Het
Col28a1 T C 6: 8,014,795 Y870C probably damaging Het
Cyp2a22 A T 7: 26,937,738 M207K probably benign Het
Glt1d1 T C 5: 127,632,285 M1T probably null Het
Gm9507 A T 10: 77,811,280 C188* probably null Het
Hectd4 T C 5: 121,363,870 V4222A possibly damaging Het
Igkv3-3 T A 6: 70,687,413 S80T possibly damaging Het
Lrrc49 T C 9: 60,601,320 K520E probably damaging Het
Ltbp1 A T 17: 75,385,160 Y1273F probably damaging Het
Lyst T A 13: 13,648,878 H1478Q probably benign Het
Mre11a A G 9: 14,825,208 D518G probably benign Het
Olfr1243 C T 2: 89,528,207 D68N probably damaging Het
Olfr381 T A 11: 73,486,572 N84I probably benign Het
Olfr859 T C 9: 19,808,396 I26T probably benign Het
Pkd1l1 T A 11: 8,950,515 S9C probably damaging Het
Prrc2b A G 2: 32,208,719 H681R probably damaging Het
Rapgef1 A G 2: 29,722,269 S644G probably benign Het
Sgce T A 6: 4,689,750 H361L probably damaging Het
Specc1 G T 11: 62,118,009 W117L probably benign Het
Srrm4 A G 5: 116,446,557 S485P possibly damaging Het
Traf2 G T 2: 25,520,451 Y395* probably null Het
Trf A G 9: 103,220,957 I34T probably benign Het
Vdac2 T C 14: 21,838,524 Y165H possibly damaging Het
Wwp1 T C 4: 19,650,360 T269A probably benign Het
Other mutations in Dpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4531001:Dpm1 UTSW 2 168210552 missense probably benign 0.42
R0200:Dpm1 UTSW 2 168223155 critical splice acceptor site probably null
R0212:Dpm1 UTSW 2 168227494 missense probably benign 0.00
R1460:Dpm1 UTSW 2 168210629 missense probably damaging 1.00
R1889:Dpm1 UTSW 2 168217735 missense possibly damaging 0.67
R1974:Dpm1 UTSW 2 168217747 missense probably damaging 1.00
R4547:Dpm1 UTSW 2 168223153 missense probably damaging 0.98
R4838:Dpm1 UTSW 2 168210536 missense probably damaging 1.00
R4887:Dpm1 UTSW 2 168217759 missense probably benign 0.01
R6919:Dpm1 UTSW 2 168230275 missense probably damaging 1.00
R7169:Dpm1 UTSW 2 168211423 nonsense probably null
Posted On2011-07-12