Incidental Mutation 'IGL02512:Pdss1'
ID 296600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdss1
Ensembl Gene ENSMUSG00000026784
Gene Name prenyl (solanesyl) diphosphate synthase, subunit 1
Synonyms 2610203G20Rik, mSPS1, 2700031G06Rik, Tprt
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02512
Quality Score
Status
Chromosome 2
Chromosomal Location 22785534-22830278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22802658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 166 (I166V)
Ref Sequence ENSEMBL: ENSMUSP00000121873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000152170]
AlphaFold Q33DR2
Predicted Effect probably damaging
Transcript: ENSMUST00000053729
AA Change: I166V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784
AA Change: I166V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000152170
AA Change: I166V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121873
Gene: ENSMUSG00000026784
AA Change: I166V

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:polyprenyl_synt 114 276 6e-35 PFAM
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,111,752 (GRCm39) H199N probably benign Het
Ankrd13a T A 5: 114,924,827 (GRCm39) M104K probably benign Het
Ankrd37 A G 8: 46,452,325 (GRCm39) L48P probably damaging Het
Ankzf1 T A 1: 75,169,222 (GRCm39) L43M probably damaging Het
Ano10 A C 9: 122,101,540 (GRCm39) V77G possibly damaging Het
Arg2 G A 12: 79,194,517 (GRCm39) V114I probably benign Het
Asah1 A C 8: 41,813,344 (GRCm39) probably benign Het
Clpx A C 9: 65,217,533 (GRCm39) I34L probably benign Het
Cnga2 G A X: 71,052,531 (GRCm39) V469I probably damaging Het
Dock9 A T 14: 121,856,950 (GRCm39) probably benign Het
Eaf1 A G 14: 31,219,743 (GRCm39) T61A possibly damaging Het
Exoc3l T A 8: 106,017,115 (GRCm39) D624V probably damaging Het
Fancd2 A G 6: 113,547,904 (GRCm39) D927G probably damaging Het
Fbn1 A T 2: 125,180,380 (GRCm39) Y1801N probably damaging Het
Garnl3 A G 2: 32,921,150 (GRCm39) Y292H probably damaging Het
Gpr174 A T X: 106,336,577 (GRCm39) K130* probably null Het
Greb1 C T 12: 16,742,713 (GRCm39) V1379I possibly damaging Het
Grik2 A T 10: 49,232,008 (GRCm39) D507E probably benign Het
Gsn A T 2: 35,173,962 (GRCm39) K24* probably null Het
Ift80 A G 3: 68,835,058 (GRCm39) probably null Het
Inpp5j T A 11: 3,449,661 (GRCm39) Y707F probably damaging Het
Ints13 A T 6: 146,477,855 (GRCm39) D31E probably damaging Het
Kcnh1 T C 1: 192,187,689 (GRCm39) F717L possibly damaging Het
Klhdc8a T C 1: 132,230,895 (GRCm39) probably null Het
Klkb1 G A 8: 45,729,277 (GRCm39) probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Msh6 T C 17: 88,292,160 (GRCm39) V305A probably benign Het
Myo6 T A 9: 80,199,801 (GRCm39) probably null Het
Nampt T A 12: 32,880,268 (GRCm39) Y54N possibly damaging Het
Neurog2 G T 3: 127,427,504 (GRCm39) E43* probably null Het
Obscn C T 11: 58,919,343 (GRCm39) R6887H probably damaging Het
Or10ag58 A G 2: 87,265,402 (GRCm39) I190M possibly damaging Het
Or5ac25 T C 16: 59,182,171 (GRCm39) N137D possibly damaging Het
Or6c203 A G 10: 129,010,119 (GRCm39) I257T possibly damaging Het
Phaf1 G A 8: 105,961,110 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Reln A G 5: 22,245,425 (GRCm39) Y728H probably benign Het
Sec31a T C 5: 100,555,052 (GRCm39) D56G probably damaging Het
Shroom1 T A 11: 53,357,386 (GRCm39) V683E probably damaging Het
Slc5a11 A G 7: 122,864,478 (GRCm39) D358G probably damaging Het
Slfn3 T A 11: 83,103,851 (GRCm39) S241T possibly damaging Het
Slitrk3 G A 3: 72,957,735 (GRCm39) P346S probably benign Het
Specc1 T A 11: 62,009,215 (GRCm39) S324T probably damaging Het
Sptlc3 T C 2: 139,389,123 (GRCm39) Y168H probably damaging Het
St3gal6 C T 16: 58,293,822 (GRCm39) E236K probably benign Het
Tet2 A T 3: 133,175,069 (GRCm39) M1426K probably benign Het
Tinag A T 9: 76,939,069 (GRCm39) probably benign Het
Tjp1 A G 7: 64,993,415 (GRCm39) S53P probably damaging Het
Uimc1 T C 13: 55,188,431 (GRCm39) T543A possibly damaging Het
Wdfy4 A G 14: 32,764,448 (GRCm39) W2147R probably benign Het
Zmym1 C T 4: 126,942,465 (GRCm39) C641Y probably damaging Het
Other mutations in Pdss1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Pdss1 APN 2 22,825,589 (GRCm39) missense possibly damaging 0.49
IGL02691:Pdss1 APN 2 22,805,253 (GRCm39) missense probably benign
LCD18:Pdss1 UTSW 2 22,790,980 (GRCm39) intron probably benign
R0190:Pdss1 UTSW 2 22,796,843 (GRCm39) missense probably damaging 0.97
R0576:Pdss1 UTSW 2 22,805,425 (GRCm39) critical splice acceptor site probably null
R0732:Pdss1 UTSW 2 22,791,324 (GRCm39) missense probably benign 0.00
R1682:Pdss1 UTSW 2 22,805,531 (GRCm39) missense probably damaging 1.00
R1808:Pdss1 UTSW 2 22,796,846 (GRCm39) nonsense probably null
R2430:Pdss1 UTSW 2 22,819,605 (GRCm39) nonsense probably null
R2937:Pdss1 UTSW 2 22,796,799 (GRCm39) splice site probably null
R2938:Pdss1 UTSW 2 22,796,799 (GRCm39) splice site probably null
R4181:Pdss1 UTSW 2 22,805,517 (GRCm39) missense probably damaging 1.00
R4302:Pdss1 UTSW 2 22,805,517 (GRCm39) missense probably damaging 1.00
R4323:Pdss1 UTSW 2 22,802,608 (GRCm39) splice site probably benign
R5076:Pdss1 UTSW 2 22,789,929 (GRCm39) critical splice acceptor site probably null
R5108:Pdss1 UTSW 2 22,796,895 (GRCm39) missense possibly damaging 0.94
R6333:Pdss1 UTSW 2 22,791,778 (GRCm39) missense probably damaging 1.00
R7138:Pdss1 UTSW 2 22,802,681 (GRCm39) missense probably damaging 1.00
R7286:Pdss1 UTSW 2 22,825,653 (GRCm39) critical splice donor site probably null
R8169:Pdss1 UTSW 2 22,791,824 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16