Incidental Mutation 'R6939:Mpdu1'
ID 548877
Institutional Source Beutler Lab
Gene Symbol Mpdu1
Ensembl Gene ENSMUSG00000018761
Gene Name mannose-P-dolichol utilization defect 1
Synonyms SL15, Supl15h, LEC35
MMRRC Submission 045053-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.792) question?
Stock # R6939 (G1)
Quality Score 219.009
Status Validated
Chromosome 11
Chromosomal Location 69547523-69553468 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 69548881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018905] [ENSMUST00000018909] [ENSMUST00000047373] [ENSMUST00000148242] [ENSMUST00000155200]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018905
SMART Domains Protein: ENSMUSP00000018905
Gene: ENSMUSG00000018761

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: ENSMUST00000018909
SMART Domains Protein: ENSMUSP00000018909
Gene: ENSMUSG00000018765

DomainStartEndE-ValueType
Pfam:Agenet 72 130 1.3e-10 PFAM
KH 227 294 3.06e-3 SMART
KH 295 366 4.16e-5 SMART
low complexity region 368 380 N/A INTRINSIC
low complexity region 389 406 N/A INTRINSIC
low complexity region 423 442 N/A INTRINSIC
low complexity region 475 503 N/A INTRINSIC
Pfam:FXR_C1 504 579 2.5e-36 PFAM
low complexity region 586 599 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000125389
SMART Domains Protein: ENSMUSP00000129025
Gene: ENSMUSG00000018761

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 probably benign
Transcript: ENSMUST00000129224
SMART Domains Protein: ENSMUSP00000120001
Gene: ENSMUSG00000018761

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 unknown
Transcript: ENSMUST00000148242
AA Change: P102S
SMART Domains Protein: ENSMUSP00000133074
Gene: ENSMUSG00000018761
AA Change: P102S

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 probably benign
Transcript: ENSMUST00000155200
SMART Domains Protein: ENSMUSP00000117715
Gene: ENSMUSG00000018761

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
CTNS 56 87 1.69e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G A 15: 60,792,244 (GRCm39) P128L probably damaging Het
Acsm3 T C 7: 119,377,678 (GRCm39) V401A probably damaging Het
Arhgef11 C A 3: 87,594,227 (GRCm39) N93K probably damaging Het
C1ra G A 6: 124,489,760 (GRCm39) probably null Het
Camk2a A G 18: 61,091,226 (GRCm39) E236G probably damaging Het
Cav2 C A 6: 17,281,410 (GRCm39) D17E possibly damaging Het
Ccdc149 T C 5: 52,533,607 (GRCm39) S520G probably benign Het
Chd4 C A 6: 125,083,501 (GRCm39) H674Q probably damaging Het
Clrn2 A T 5: 45,611,096 (GRCm39) probably benign Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cyp2c67 T C 19: 39,631,778 (GRCm39) T140A possibly damaging Het
D7Ertd443e T C 7: 133,966,208 (GRCm39) probably null Het
Dcdc2c G T 12: 28,591,496 (GRCm39) Q131K probably benign Het
Dmpk T A 7: 18,822,149 (GRCm39) V369E probably damaging Het
Dnah11 A T 12: 118,070,297 (GRCm39) W1503R probably damaging Het
Dnai7 A G 6: 145,120,945 (GRCm39) F625L possibly damaging Het
Dok2 T C 14: 71,013,045 (GRCm39) V71A probably benign Het
Dqx1 A T 6: 83,036,446 (GRCm39) Q150L probably damaging Het
Extl3 A G 14: 65,304,189 (GRCm39) I740T possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 C T 11: 55,143,300 (GRCm39) W4183* probably null Het
Fkrp C T 7: 16,545,751 (GRCm39) R37Q probably benign Het
Frem3 A G 8: 81,341,774 (GRCm39) K1356E probably benign Het
Fus A T 7: 127,571,741 (GRCm39) probably benign Het
Gabarapl2 C A 8: 112,669,201 (GRCm39) S53* probably null Het
Gjd3 A C 11: 102,691,733 (GRCm39) M90R probably damaging Het
Gm30083 C T 14: 33,725,557 (GRCm39) probably null Het
Gm7356 T A 17: 14,221,387 (GRCm39) Y214F probably benign Het
Hexd A T 11: 121,113,164 (GRCm39) D533V probably benign Het
Ift172 G A 5: 31,414,930 (GRCm39) A1364V probably damaging Het
Ighmbp2 A T 19: 3,326,907 (GRCm39) F186Y probably damaging Het
Inpp5e C A 2: 26,297,774 (GRCm39) probably null Het
Iqcb1 A G 16: 36,660,274 (GRCm39) T146A possibly damaging Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm6b A G 11: 69,297,588 (GRCm39) W284R probably damaging Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Ksr2 T A 5: 117,903,626 (GRCm39) *952R probably null Het
Ldlrap1 C A 4: 134,495,285 (GRCm39) probably benign Het
Mrgprh A T 17: 13,095,822 (GRCm39) T21S probably benign Het
Muc16 T A 9: 18,549,833 (GRCm39) T5487S probably benign Het
Mydgf A G 17: 56,490,737 (GRCm39) probably null Het
Napa T C 7: 15,849,182 (GRCm39) C241R possibly damaging Het
Or10ab4 C A 7: 107,654,312 (GRCm39) A41E possibly damaging Het
Or10n7-ps1 T C 9: 39,598,187 (GRCm39) T18A possibly damaging Het
Or5k17 A T 16: 58,746,648 (GRCm39) Y95* probably null Het
Pla2g4f A T 2: 120,137,782 (GRCm39) L326Q probably damaging Het
Pramel16 T C 4: 143,675,366 (GRCm39) T487A probably benign Het
Psme4 T A 11: 30,787,291 (GRCm39) Y1029N probably damaging Het
Ptprj T C 2: 90,289,858 (GRCm39) T707A possibly damaging Het
Raet1e T A 10: 22,050,256 (GRCm39) M13K possibly damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Rmi1 A G 13: 58,557,169 (GRCm39) I473V probably benign Het
Rps6ka4 A G 19: 6,815,437 (GRCm39) F186L probably damaging Het
Ryr1 T A 7: 28,751,751 (GRCm39) M3672L possibly damaging Het
Smarca5 A T 8: 81,431,949 (GRCm39) C890S possibly damaging Het
Spata31d1e T A 13: 59,889,872 (GRCm39) K231N possibly damaging Het
Tdrd12 C T 7: 35,185,024 (GRCm39) probably null Het
Tecta T C 9: 42,259,293 (GRCm39) N1530S probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmem94 A G 11: 115,676,656 (GRCm39) S54G possibly damaging Het
Tnk2 T C 16: 32,482,696 (GRCm39) V41A probably damaging Het
Trpm1 A G 7: 63,918,045 (GRCm39) T462A probably benign Het
Tsg101 T C 7: 46,556,847 (GRCm39) T61A probably benign Het
Usp42 T C 5: 143,713,724 (GRCm39) N17D probably damaging Het
Zfp607a T A 7: 27,578,473 (GRCm39) C514* probably null Het
Zfp866 G T 8: 70,218,871 (GRCm39) Q250K probably damaging Het
Other mutations in Mpdu1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Mpdu1 APN 11 69,548,151 (GRCm39) missense probably damaging 1.00
IGL02488:Mpdu1 APN 11 69,549,435 (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
R8199:Mpdu1 UTSW 11 69,548,069 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGAGTCCCCACCAAAGTTC -3'
(R):5'- AACTTCCCCTTCAGGTGAGTG -3'

Sequencing Primer
(F):5'- GTTCCCATACACAATGCCTGC -3'
(R):5'- GAGGCAAACATCCTTACTTGCTGAG -3'
Posted On 2019-05-15