Incidental Mutation 'IGL02488:Mpdu1'
ID295522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpdu1
Ensembl Gene ENSMUSG00000018761
Gene Namemannose-P-dolichol utilization defect 1
SynonymsSupl15h, SL15, LEC35
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.834) question?
Stock #IGL02488
Quality Score
Status
Chromosome11
Chromosomal Location69656697-69662642 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69658609 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000139155
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 noncoding transcript
Transcript: ENSMUST00000149764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153217
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: 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: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Mpdu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Mpdu1 APN 11 69657325 missense probably damaging 1.00
R0010:Mpdu1 UTSW 11 69658841 missense probably damaging 1.00
R6904:Mpdu1 UTSW 11 69658585 missense probably benign 0.05
R6939:Mpdu1 UTSW 11 69658055 intron probably benign
R8199:Mpdu1 UTSW 11 69657243 nonsense probably null
Posted On2015-04-16