Incidental Mutation 'IGL00156:Dpm1'
| ID |
1816 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dpm1
|
| Ensembl Gene |
ENSMUSG00000078919 |
| Gene Name |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
168050968-168072299 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 168052495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
O70152 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057793
|
| SMART Domains |
Protein: ENSMUSP00000056809
Gene: ENSMUSG00000051149
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140249
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139984
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153258
|
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,856,353 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
T |
A |
18: 59,157,537 (GRCm39) |
V943E |
probably damaging |
Het |
| C530025M09Rik |
C |
A |
2: 149,672,646 (GRCm39) |
|
probably benign |
Het |
| Cep192 |
T |
G |
18: 67,953,407 (GRCm39) |
W475G |
probably damaging |
Het |
| Col28a1 |
T |
C |
6: 8,014,795 (GRCm39) |
Y870C |
probably damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,637,163 (GRCm39) |
M207K |
probably benign |
Het |
| Glt1d1 |
T |
C |
5: 127,709,349 (GRCm39) |
M1T |
probably null |
Het |
| Gm9507 |
A |
T |
10: 77,647,114 (GRCm39) |
C188* |
probably null |
Het |
| Hectd4 |
T |
C |
5: 121,501,933 (GRCm39) |
V4222A |
possibly damaging |
Het |
| Igkv3-3 |
T |
A |
6: 70,664,397 (GRCm39) |
S80T |
possibly damaging |
Het |
| Lrrc49 |
T |
C |
9: 60,508,603 (GRCm39) |
K520E |
probably damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,692,155 (GRCm39) |
Y1273F |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,823,463 (GRCm39) |
H1478Q |
probably benign |
Het |
| Mre11a |
A |
G |
9: 14,736,504 (GRCm39) |
D518G |
probably benign |
Het |
| Or1e22 |
T |
A |
11: 73,377,398 (GRCm39) |
N84I |
probably benign |
Het |
| Or4a71 |
C |
T |
2: 89,358,551 (GRCm39) |
D68N |
probably damaging |
Het |
| Or7e168 |
T |
C |
9: 19,719,692 (GRCm39) |
I26T |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,900,515 (GRCm39) |
S9C |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,098,731 (GRCm39) |
H681R |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,612,281 (GRCm39) |
S644G |
probably benign |
Het |
| Sgce |
T |
A |
6: 4,689,750 (GRCm39) |
H361L |
probably damaging |
Het |
| Specc1 |
G |
T |
11: 62,008,835 (GRCm39) |
W117L |
probably benign |
Het |
| Srrm4 |
A |
G |
5: 116,584,616 (GRCm39) |
S485P |
possibly damaging |
Het |
| Traf2 |
G |
T |
2: 25,410,463 (GRCm39) |
Y395* |
probably null |
Het |
| Trf |
A |
G |
9: 103,098,156 (GRCm39) |
I34T |
probably benign |
Het |
| Vdac2 |
T |
C |
14: 21,888,592 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,650,360 (GRCm39) |
T269A |
probably benign |
Het |
|
| Other mutations in Dpm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4531001:Dpm1
|
UTSW |
2 |
168,052,472 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0200:Dpm1
|
UTSW |
2 |
168,065,075 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0212:Dpm1
|
UTSW |
2 |
168,069,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1460:Dpm1
|
UTSW |
2 |
168,052,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Dpm1
|
UTSW |
2 |
168,059,655 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1974:Dpm1
|
UTSW |
2 |
168,059,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4547:Dpm1
|
UTSW |
2 |
168,065,073 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4838:Dpm1
|
UTSW |
2 |
168,052,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Dpm1
|
UTSW |
2 |
168,059,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6919:Dpm1
|
UTSW |
2 |
168,072,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7169:Dpm1
|
UTSW |
2 |
168,053,343 (GRCm39) |
nonsense |
probably null |
|
|
R9526:Dpm1
|
UTSW |
2 |
168,072,210 (GRCm39) |
missense |
probably benign |
|
|
R9746:Dpm1
|
UTSW |
2 |
168,072,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation