Incidental Mutation 'IGL01546:Dolpp1'
ID90341
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: 0.951) question?
Stock #IGL01546
Quality Score
Status
Chromosome2
Chromosomal Location30392254-30400529 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30397095 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 180 (F180L)
Ref Sequence ENSEMBL: ENSMUSP00000028209 (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 probably damaging
Transcript: ENSMUST00000028209
AA Change: F180L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856
AA Change: F180L

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 benign
Transcript: ENSMUST00000113612
SMART Domains Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
Pfam:PAP2 58 165 1.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123202
AA Change: F82L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856
AA Change: F82L

DomainStartEndE-ValueType
Pfam:PAP2 1 90 8.1e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133991
Predicted Effect probably benign
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 probably benign
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016D06Rik T A 8: 11,656,136 M133L probably benign Het
Amdhd2 C A 17: 24,163,600 R22L probably benign Het
Arg2 T C 12: 79,149,859 probably benign Het
Catip T C 1: 74,362,795 L43P probably damaging Het
Ccdc30 A C 4: 119,398,188 L123R probably damaging Het
Cep89 T C 7: 35,420,900 L369P probably damaging Het
Kctd19 T C 8: 105,386,962 H670R probably benign Het
Kntc1 T A 5: 123,765,005 I315N probably benign Het
Mfsd4b2 A T 10: 39,921,475 W295R probably damaging Het
Mgam A G 6: 40,654,693 T116A probably damaging Het
Mn1 A T 5: 111,421,248 D1028V probably damaging Het
Olfr19 A G 16: 16,673,265 S239P probably damaging Het
Olfr23 G A 11: 73,941,194 G316D probably benign Het
Olfr592 A T 7: 103,187,410 I270F probably damaging Het
Olfr690 T C 7: 105,329,692 R167G probably damaging Het
Olfr694 A G 7: 106,689,531 S67P probably damaging Het
Olfr845 T G 9: 19,338,772 V104G possibly damaging Het
Phc3 C A 3: 30,961,739 A108S probably damaging Het
Pkhd1l1 A G 15: 44,566,316 Y3310C probably damaging Het
Ppp4r3b T C 11: 29,209,488 probably null Het
Slx4ip A G 2: 137,066,199 T159A probably benign Het
Sos1 T A 17: 80,408,611 Y974F probably damaging Het
Taar8a A T 10: 24,076,915 Y139F possibly damaging Het
Vcam1 A G 3: 116,115,942 C579R possibly damaging Het
Zdhhc17 C T 10: 110,946,193 V547M probably damaging Het
Other mutations in Dolpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02896:Dolpp1 APN 2 30396230 missense probably damaging 0.99
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 On2013-12-03