Incidental Mutation 'R6919:Dpm1'
ID 539480
Institutional Source Beutler Lab
Gene Symbol Dpm1
Ensembl Gene ENSMUSG00000078919
Gene Name dolichyl-phosphate mannosyltransferase subunit 1, catalytic
Synonyms
MMRRC Submission 045039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6919 (G1)
Quality Score 223.009
Status Validated
Chromosome 2
Chromosomal Location 168050968-168072299 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 168072195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 27 (Y27H)
Ref Sequence ENSEMBL: ENSMUSP00000118776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099071] [ENSMUST00000109193] [ENSMUST00000138667] [ENSMUST00000154111]
AlphaFold O70152
Predicted Effect probably benign
Transcript: ENSMUST00000099071
SMART Domains Protein: ENSMUSP00000096670
Gene: ENSMUSG00000074576

DomainStartEndE-ValueType
coiled coil region 5 34 N/A INTRINSIC
Pfam:ThiF 63 303 6e-66 PFAM
RHOD 337 455 7.43e-12 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000096671
Gene: ENSMUSG00000078919
AA Change: Y18H

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
SMART Domains Protein: ENSMUSP00000104816
Gene: ENSMUSG00000078919

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 probably damaging
Transcript: ENSMUST00000138667
AA Change: Y27H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752
AA Change: Y27H

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 probably damaging
Transcript: ENSMUST00000154111
AA Change: Y27H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118776
Gene: ENSMUSG00000078919
AA Change: Y27H

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
Meta Mutation Damage Score 0.3399 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Aacs A G 5: 125,583,227 (GRCm39) D261G probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Ak1 A T 2: 32,521,134 (GRCm39) D101V possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Emilin3 A T 2: 160,750,018 (GRCm39) I577N probably damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Hivep1 A G 13: 42,336,928 (GRCm39) I2336V probably benign Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Itga9 T C 9: 118,716,883 (GRCm39) W396R probably damaging Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Slc8a1 A G 17: 81,696,301 (GRCm39) F911S probably damaging Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M probably damaging Het
Other mutations in Dpm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Dpm1 APN 2 168,052,495 (GRCm39) missense probably benign 0.37
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
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
Predicted Primers PCR Primer
(F):5'- ACAGATAGACACCGGACTCG -3'
(R):5'- GAAACGGTCACCATATCTGGAAG -3'

Sequencing Primer
(F):5'- TCGCTAGAGACCTGAGCAG -3'
(R):5'- ACGGTCACCATATCTGGAAGTTTCC -3'
Posted On 2018-11-06