Mutagenetix > Incidental Mutation

Incidental Mutation 'R0190:Pdss1'

23154

Institutional Source

Beutler Lab

Gene Symbol

Pdss1

Ensembl Gene

ENSMUSG00000026784

Gene Name

prenyl (solanesyl) diphosphate synthase, subunit 1

Synonyms

2610203G20Rik, mSPS1, 2700031G06Rik, Tprt

MMRRC Submission

038451-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0190 (G1)

Quality Score

179

Status

Validated (trace)

Chromosome

Chromosomal Location

22785534-22830278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22796843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 119 (S119P)

Ref Sequence

ENSEMBL: ENSMUSP00000121873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000141215] [ENSMUST00000152170]

AlphaFold

Q33DR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053729
AA Change: S119P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784
AA Change: S119P

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:polyprenyl_synt	117	366	1.5e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122676

Predicted Effect

probably benign
Transcript: ENSMUST00000141215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148072

Predicted Effect

probably damaging
Transcript: ENSMUST00000152170
AA Change: S119P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121873
Gene: ENSMUSG00000026784
AA Change: S119P

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:polyprenyl_synt	114	276	6e-35	PFAM

Meta Mutation Damage Score

0.5216

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 91.6%
20x: 72.5%

Validation Efficiency

75% (45/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,966,429 (GRCm39)		probably null	Het
Aff2	CA	CAAA	X: 68,892,711 (GRCm39)		probably null	Het
Ankrd34a	A	G	3: 96,505,105 (GRCm39)	D103G	probably damaging	Het
Atp1b2	T	C	11: 69,492,388 (GRCm39)	D224G	probably damaging	Het
Atxn10	A	G	15: 85,220,730 (GRCm39)	D22G	possibly damaging	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Caskin1	C	T	17: 24,723,596 (GRCm39)	L795F	possibly damaging	Het
Cdk12	T	C	11: 98,132,657 (GRCm39)		probably null	Het
Crtc2	A	G	3: 90,166,716 (GRCm39)	H91R	probably damaging	Het
Dbt	A	G	3: 116,332,736 (GRCm39)		probably null	Het
Dda1	C	A	8: 71,924,877 (GRCm39)	Y41*	probably null	Het
Dnah2	T	A	11: 69,326,075 (GRCm39)	D3692V	probably damaging	Het
Dpep1	A	G	8: 123,927,447 (GRCm39)	T334A	probably benign	Het
Enthd1	C	T	15: 80,418,695 (GRCm39)		probably null	Het
Fpr-rs6	T	A	17: 20,402,741 (GRCm39)	I207F	probably benign	Het
Fsip2	T	A	2: 82,815,521 (GRCm39)	S3751R	possibly damaging	Het
Gigyf2	A	T	1: 87,356,410 (GRCm39)		probably benign	Het
Gtf3c4	C	A	2: 28,730,140 (GRCm39)	D34Y	probably benign	Het
Iftap	G	A	2: 101,416,775 (GRCm39)	S58L	probably benign	Het
Igfn1	A	T	1: 135,889,790 (GRCm39)	V2419E	probably damaging	Het
Kank1	A	T	19: 25,386,647 (GRCm39)	I79L	probably benign	Het
Kif21b	A	G	1: 136,098,957 (GRCm39)	H1415R	probably benign	Het
Mad2l1	T	C	6: 66,516,862 (GRCm39)	S185P	possibly damaging	Het
Mettl18	A	G	1: 163,823,991 (GRCm39)	E104G	probably damaging	Het
Mrgprb2	G	A	7: 48,202,525 (GRCm39)	H67Y	possibly damaging	Het
Mrgprd	G	A	7: 144,875,439 (GRCm39)	M103I	probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Npc1	G	A	18: 12,324,887 (GRCm39)	T1202I	probably damaging	Het
Nucks1	A	G	1: 131,852,329 (GRCm39)	D60G	probably damaging	Het
Or10g7	A	G	9: 39,905,840 (GRCm39)	I245V	probably benign	Het
Or13f5	G	C	4: 52,825,613 (GRCm39)	W72S	probably damaging	Het
Or4a72	T	A	2: 89,405,302 (GRCm39)	Y256F	probably damaging	Het
Paqr8	A	G	1: 21,005,271 (GRCm39)	T142A	probably benign	Het
Plcl2	A	G	17: 50,914,671 (GRCm39)	D560G	probably benign	Het
Ppm1b	T	A	17: 85,301,531 (GRCm39)	V137E	probably damaging	Het
Ppp1r16b	A	C	2: 158,537,983 (GRCm39)	K35Q	probably damaging	Het
Prkd2	A	T	7: 16,603,815 (GRCm39)	E832V	probably damaging	Het
Rab34	G	T	11: 78,082,232 (GRCm39)	K191N	possibly damaging	Het
Rad51ap2	A	C	12: 11,508,540 (GRCm39)	T821P	probably benign	Het
Rbm19	A	G	5: 120,282,111 (GRCm39)	T823A	probably benign	Het
Rpf2	T	G	10: 40,103,597 (GRCm39)	H106P	probably damaging	Het
Schip1	A	G	3: 68,533,177 (GRCm39)	M453V	probably benign	Het
Sema5a	T	A	15: 32,562,920 (GRCm39)	N310K	possibly damaging	Het
Sf3b1	T	C	1: 55,029,465 (GRCm39)	D1179G	probably damaging	Het
Skint2	A	T	4: 112,473,729 (GRCm39)	T4S	possibly damaging	Het
Slc22a5	A	T	11: 53,760,241 (GRCm39)	Y358*	probably null	Het
Slc34a1	T	C	13: 55,556,914 (GRCm39)	M251T	probably benign	Het
Slc44a5	A	G	3: 153,944,755 (GRCm39)	D124G	probably null	Het
Slc9b1	G	A	3: 135,063,434 (GRCm39)	E73K	unknown	Het
Ssbp2	T	C	13: 91,817,829 (GRCm39)	L156P	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Trim47	A	G	11: 115,997,053 (GRCm39)	V568A	probably damaging	Het
Ttn	A	T	2: 76,718,324 (GRCm39)		probably benign	Het
Ttpa	A	T	4: 20,021,260 (GRCm39)	I74F	probably damaging	Het
Vmn2r52	T	C	7: 9,905,315 (GRCm39)	I175V	probably benign	Het
Wrn	C	T	8: 33,731,011 (GRCm39)	C1350Y	probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp422	A	T	6: 116,603,572 (GRCm39)	D142E	probably damaging	Het
Zfp473	A	T	7: 44,382,612 (GRCm39)	C574S	probably damaging	Het
Zfp638	T	A	6: 83,905,946 (GRCm39)	M37K	probably damaging	Het
Zfp976	C	A	7: 42,291,948 (GRCm39)		probably benign	Het

Other mutations in Pdss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Pdss1	APN	2	22,825,589 (GRCm39)	missense	possibly damaging	0.49
IGL02512:Pdss1	APN	2	22,802,658 (GRCm39)	missense	probably damaging	1.00
IGL02691:Pdss1	APN	2	22,805,253 (GRCm39)	missense	probably benign
LCD18:Pdss1	UTSW	2	22,790,980 (GRCm39)	intron	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ATACCACTTGGGGCAAAGCCAC -3'
(R):5'- GCATTTCTCTTCTGCAAAATGAGGGTC -3'

Sequencing Primer
(F):5'- AAGCCACACATTCTTTTTGTGTTG -3'
(R):5'- CCAAGGTCTGTCCATGATAATAGC -3'

Posted On

2013-04-16