Incidental Mutation 'IGL02488:Mpdu1'
ID 295522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpdu1
Ensembl Gene ENSMUSG00000018761
Gene Name mannose-P-dolichol utilization defect 1
Synonyms SL15, Supl15h, LEC35
Accession Numbers
Essential gene? Probably essential (E-score: 0.792) question?
Stock # IGL02488
Quality Score
Status
Chromosome 11
Chromosomal Location 69547523-69553468 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69549435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 87 (T87A)
Ref Sequence ENSEMBL: ENSMUSP00000133074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000047373] [ENSMUST00000148242] [ENSMUST00000155200]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000018905
AA Change: T87A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761
AA Change: T87A

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
low complexity region 141 157 N/A INTRINSIC
CTNS 167 198 5.56e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047373
SMART Domains Protein: ENSMUSP00000048524
Gene: ENSMUSG00000041287

DomainStartEndE-ValueType
low complexity region 31 45 N/A INTRINSIC
HMG 46 116 6.83e-29 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125389
AA Change: T69A
SMART Domains Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761
AA Change: T69A

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
CTNS 39 70 1.69e-6 SMART
low complexity region 89 104 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127118
Predicted Effect unknown
Transcript: ENSMUST00000129224
AA Change: T84A
SMART Domains Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761
AA Change: T84A

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
CTNS 54 85 1.69e-6 SMART
low complexity region 138 163 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137288
Predicted Effect probably damaging
Transcript: ENSMUST00000148242
AA Change: T87A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761
AA Change: T87A

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
low complexity region 98 109 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000155200
AA Change: T87A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761
AA Change: T87A

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158127
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the PQ-loop superfamily. A similar gene in human encodes a protein that is required for monosaccharide-P-dolichol-dependent glycosyltransferase reactions, and disruption of this gene is the cause of congenital disorder of glycosylation (CDG) type 1F, a disease linked to defects in protein N-glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Mpdu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Mpdu1 APN 11 69,548,151 (GRCm39) missense probably damaging 1.00
R0010:Mpdu1 UTSW 11 69,549,667 (GRCm39) missense probably damaging 1.00
R6904:Mpdu1 UTSW 11 69,549,411 (GRCm39) missense probably benign 0.05
R6939:Mpdu1 UTSW 11 69,548,881 (GRCm39) intron probably benign
R8199:Mpdu1 UTSW 11 69,548,069 (GRCm39) nonsense probably null
Posted On 2015-04-16