Incidental Mutation 'R0576:Pdss1'
Institutional Source Beutler Lab
Gene Symbol Pdss1
Ensembl Gene ENSMUSG00000026784
Gene Nameprenyl (solanesyl) diphosphate synthase, subunit 1
Synonyms2610203G20Rik, Tprt, mSPS1, 2700031G06Rik
MMRRC Submission 038766-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0576 (G1)
Quality Score225
Status Validated
Chromosomal Location22895522-22940266 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 22915413 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000152170]
Predicted Effect probably null
Transcript: ENSMUST00000053729
SMART Domains Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784

low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 117 366 1.5e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148072
Predicted Effect probably null
Transcript: ENSMUST00000152170
SMART Domains Protein: ENSMUSP00000121873
Gene: ENSMUSG00000026784

low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 114 276 6e-35 PFAM
Meta Mutation Damage Score 0.9490 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik A T 2: 130,713,470 F839L probably benign Het
Ccdc77 T A 6: 120,331,848 L335F probably benign Het
Ccr3 T A 9: 124,029,009 F127Y probably damaging Het
Cfap43 T C 19: 47,797,140 N437S probably benign Het
Cfh A G 1: 140,136,815 V365A probably damaging Het
Copg1 T A 6: 87,897,963 V380D probably damaging Het
Cxxc1 T C 18: 74,220,185 I497T possibly damaging Het
Disp3 G A 4: 148,241,590 T1237I possibly damaging Het
Dnah7a A T 1: 53,636,087 F360L probably benign Het
Dnhd1 C T 7: 105,714,045 A3938V probably damaging Het
Eif4g1 A G 16: 20,684,068 D1000G probably damaging Het
Emsy A T 7: 98,593,776 V1052D probably damaging Het
Ep400 A G 5: 110,711,093 probably benign Het
Fa2h T C 8: 111,356,147 H146R probably damaging Het
Gad1 G A 2: 70,594,652 C430Y probably benign Het
Gm38394 A G 1: 133,657,838 F587S probably benign Het
Gtse1 T C 15: 85,869,051 S456P probably damaging Het
Gucy2g T C 19: 55,198,770 T1073A probably damaging Het
Hectd2 T G 19: 36,585,497 N3K probably benign Het
Hmcn1 A T 1: 150,650,017 C3318* probably null Het
Lipo2 C T 19: 33,749,424 S71N probably benign Het
Mynn G T 3: 30,607,068 D100Y probably damaging Het
Myo16 G A 8: 10,562,318 probably null Het
Npr2 G T 4: 43,640,947 K384N probably benign Het
Nrde2 A G 12: 100,132,233 V725A possibly damaging Het
Olfr166 A G 16: 19,487,188 M117V probably damaging Het
Olfr748 T A 14: 50,711,204 S291R probably damaging Het
Otud7a C T 7: 63,685,518 P101S possibly damaging Het
Pcdhb7 T A 18: 37,342,357 L182Q probably benign Het
Ppargc1b T A 18: 61,311,441 H233L probably damaging Het
Ppm1b A G 17: 85,013,559 probably null Het
Prdm14 A T 1: 13,125,725 S37R possibly damaging Het
Prss45 A G 9: 110,838,429 T39A probably benign Het
Qars T C 9: 108,514,962 probably benign Het
Rxfp2 T G 5: 150,038,247 H77Q probably benign Het
Scd4 A G 19: 44,341,246 M219V probably benign Het
Sec24b G T 3: 130,041,336 P71Q probably benign Het
Snd1 T G 6: 28,886,577 V861G probably benign Het
Sspo A G 6: 48,464,942 probably null Het
Tas2r129 A G 6: 132,951,534 T145A probably benign Het
Tbc1d31 T A 15: 57,969,724 I953N possibly damaging Het
Tlr4 A G 4: 66,839,495 N175S probably benign Het
Tspyl4 A G 10: 34,298,522 N337D probably damaging Het
Ttn A T 2: 76,812,201 L13330H probably damaging Het
Usp33 T A 3: 152,384,119 Y765* probably null Het
Vmn2r59 T A 7: 42,047,105 Y71F probably benign Het
Zfhx4 T C 3: 5,402,101 S2465P probably damaging Het
Other mutations in Pdss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Pdss1 APN 2 22935577 missense possibly damaging 0.49
IGL02512:Pdss1 APN 2 22912646 missense probably damaging 1.00
IGL02691:Pdss1 APN 2 22915241 missense probably benign
LCD18:Pdss1 UTSW 2 22900968 intron probably benign
R0190:Pdss1 UTSW 2 22906831 missense probably damaging 0.97
R0732:Pdss1 UTSW 2 22901312 missense probably benign 0.00
R1682:Pdss1 UTSW 2 22915519 missense probably damaging 1.00
R1808:Pdss1 UTSW 2 22906834 nonsense probably null
R2430:Pdss1 UTSW 2 22929593 nonsense probably null
R2937:Pdss1 UTSW 2 22906787 splice site probably null
R2938:Pdss1 UTSW 2 22906787 splice site probably null
R4181:Pdss1 UTSW 2 22915505 missense probably damaging 1.00
R4302:Pdss1 UTSW 2 22915505 missense probably damaging 1.00
R4323:Pdss1 UTSW 2 22912596 splice site probably benign
R5076:Pdss1 UTSW 2 22899917 critical splice acceptor site probably null
R5108:Pdss1 UTSW 2 22906883 missense possibly damaging 0.94
R6333:Pdss1 UTSW 2 22901766 missense probably damaging 1.00
R7138:Pdss1 UTSW 2 22912669 missense probably damaging 1.00
R7286:Pdss1 UTSW 2 22935641 critical splice donor site probably null
R8169:Pdss1 UTSW 2 22901812 missense probably benign 0.01
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-07-11