Incidental Mutation 'IGL02896:Dolpp1'
ID363401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dolpp1
Ensembl Gene ENSMUSG00000026856
Gene Namedolichyl pyrophosphate phosphatase 1
Synonyms0610011H20Rik, LSFR2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.930) question?
Stock #IGL02896
Quality Score
Status
Chromosome2
Chromosomal Location30392254-30400529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30396230 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 114 (S114P)
Ref Sequence ENSEMBL: ENSMUSP00000109242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000028209] [ENSMUST00000102855] [ENSMUST00000113612] [ENSMUST00000123202]
Predicted Effect probably benign
Transcript: ENSMUST00000028207
SMART Domains Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 34 616 1.9e-235 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000028209
AA Change: S114P

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856
AA Change: S114P

DomainStartEndE-ValueType
acidPPc 59 180 1.31e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102855
SMART Domains Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 35 615 2.4e-195 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113612
AA Change: S114P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856
AA Change: S114P

DomainStartEndE-ValueType
Pfam:PAP2 58 165 1.7e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123202
AA Change: S16P

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856
AA Change: S16P

DomainStartEndE-ValueType
Pfam:PAP2 1 90 8.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133991
Predicted Effect silent
Transcript: ENSMUST00000137248
SMART Domains Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
low complexity region 71 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152303
Predicted Effect silent
Transcript: ENSMUST00000155196
SMART Domains Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
low complexity region 69 88 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156984
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 87,589,020 D246G probably damaging Het
Adcy2 A G 13: 68,727,872 S504P probably damaging Het
Adgrv1 A T 13: 81,520,739 I2566K probably damaging Het
Als2 A G 1: 59,183,787 V1108A probably benign Het
Atad2b T A 12: 4,958,151 F466I probably damaging Het
Cyp2a22 T C 7: 26,936,461 M226V probably damaging Het
D5Ertd579e T C 5: 36,613,982 D1023G possibly damaging Het
D630003M21Rik T C 2: 158,217,285 I232V probably benign Het
Fars2 T A 13: 36,204,842 S105T probably benign Het
Fndc7 T C 3: 108,862,931 I560V probably benign Het
Gcn1l1 T C 5: 115,619,648 probably benign Het
Gm5134 T C 10: 75,974,224 L113P possibly damaging Het
Hipk2 G T 6: 38,698,447 H1066Q probably damaging Het
Katnb1 A G 8: 95,096,028 probably benign Het
Lrrd1 T A 5: 3,851,473 S593T probably benign Het
Mastl T C 2: 23,131,767 R713G probably damaging Het
Mrgpra6 T A 7: 47,188,907 D181V probably benign Het
Mroh7 C T 4: 106,699,816 V828I possibly damaging Het
Nbeal2 A G 9: 110,639,292 probably null Het
Nckap5l G T 15: 99,427,210 Q471K possibly damaging Het
Olfr262 A T 19: 12,240,989 L224* probably null Het
Olfr344 A T 2: 36,569,205 L202F possibly damaging Het
Olfr536 T C 7: 140,504,055 probably null Het
Papd4 A T 13: 93,168,437 N280K probably damaging Het
Pfn4 A G 12: 4,775,451 N96S probably benign Het
Ppp1r3c G A 19: 36,733,465 P302S probably benign Het
Senp2 T G 16: 22,018,368 Y122* probably null Het
Slc5a7 C A 17: 54,293,017 G123* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Th C T 7: 142,895,431 R289Q probably damaging Het
Tigit C T 16: 43,662,198 V58I probably benign Het
Tldc1 T C 8: 119,762,425 D373G probably damaging Het
Ush1c C A 7: 46,198,415 V810L probably benign Het
Vmn2r120 C A 17: 57,509,008 K782N probably damaging Het
Other mutations in Dolpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Dolpp1 APN 2 30397095 missense probably damaging 1.00
R1321:Dolpp1 UTSW 2 30395736 missense possibly damaging 0.83
R2032:Dolpp1 UTSW 2 30392441 missense probably damaging 1.00
R3722:Dolpp1 UTSW 2 30397488 missense probably damaging 0.98
R4407:Dolpp1 UTSW 2 30396452 missense possibly damaging 0.91
R5417:Dolpp1 UTSW 2 30396237 missense probably damaging 1.00
R5895:Dolpp1 UTSW 2 30395646 splice site probably benign
R6270:Dolpp1 UTSW 2 30392269 unclassified probably benign
R7818:Dolpp1 UTSW 2 30396491 missense probably benign 0.24
R8108:Dolpp1 UTSW 2 30396246 missense probably benign 0.13
Posted On2015-12-18