Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01419:Pdss1'

80319

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 #

IGL01419

Quality Score

Status

Chromosome

Chromosomal Location

22785534-22830278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22825589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 343 (M343V)

Ref Sequence

ENSEMBL: ENSMUSP00000055689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053729] [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000149229] [ENSMUST00000140164] [ENSMUST00000149719] [ENSMUST00000153931]

AlphaFold

Q33DR2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053729
AA Change: M343V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784
AA Change: M343V

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

probably benign
Transcript: ENSMUST00000078977

SMART Domains

Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.7e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	364	N/A	INTRINSIC
SH3	393	448	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091394

SMART Domains

Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	4.1e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	281	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	336	351	N/A	INTRINSIC
low complexity region	365	392	N/A	INTRINSIC
SH3	421	476	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114544

SMART Domains

Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	4.4e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	268	300	N/A	INTRINSIC
SH3	329	384	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123948

SMART Domains

Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	5.1e-39	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	352	N/A	INTRINSIC
low complexity region	366	393	N/A	INTRINSIC
SH3	422	477	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126112

SMART Domains

Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	8.6e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	291	298	N/A	INTRINSIC
low complexity region	332	347	N/A	INTRINSIC
low complexity region	361	388	N/A	INTRINSIC
SH3	417	472	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139038

SMART Domains

Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.4e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	293	N/A	INTRINSIC
low complexity region	307	334	N/A	INTRINSIC
SH3	363	418	2.38e-23	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000149229
AA Change: M7V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139472

Predicted Effect

probably benign
Transcript: ENSMUST00000140164

SMART Domains

Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	8.6e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	360	387	N/A	INTRINSIC
SH3	416	471	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149719

SMART Domains

Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	7.8e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	331	358	N/A	INTRINSIC
SH3	387	442	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153931

SMART Domains

Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	273	305	N/A	INTRINSIC
SH3	334	389	2.38e-23	SMART

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,327,526 (GRCm39)	T672S	probably damaging	Het
Adamts14	A	T	10: 61,041,321 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Alkbh8	A	G	9: 3,385,354 (GRCm39)	R584G	probably damaging	Het
Apob	A	T	12: 8,052,251 (GRCm39)	I1218F	probably damaging	Het
Atp5f1a	T	C	18: 77,865,233 (GRCm39)	S52P	probably damaging	Het
B4galnt3	A	G	6: 120,192,351 (GRCm39)	S462P	possibly damaging	Het
Bdkrb1	A	G	12: 105,571,040 (GRCm39)	H202R	possibly damaging	Het
Bltp1	T	C	3: 37,102,270 (GRCm39)	S1323P	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfhr4	T	C	1: 139,667,382 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,420 (GRCm39)	I242K	probably damaging	Het
Csde1	A	G	3: 102,946,086 (GRCm39)	T27A	probably damaging	Het
D930048N14Rik	C	T	11: 51,545,603 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,552,455 (GRCm39)	Y451N	possibly damaging	Het
Diaph3	C	A	14: 87,202,989 (GRCm39)	G623*	probably null	Het
Dlc1	T	C	8: 37,317,371 (GRCm39)	T435A	probably benign	Het
Dock8	A	G	19: 25,096,816 (GRCm39)	S575G	probably benign	Het
Fbxw22	T	A	9: 109,210,790 (GRCm39)	Y407F	probably benign	Het
Fzd4	C	A	7: 89,056,943 (GRCm39)	A330E	probably damaging	Het
Gm17415	A	G	1: 93,349,672 (GRCm39)		probably benign	Het
Gnat1	C	T	9: 107,556,633 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,725,081 (GRCm39)	Y76C	probably damaging	Het
Heatr5b	G	A	17: 79,103,939 (GRCm39)	H1079Y	probably benign	Het
Helz	T	G	11: 107,577,340 (GRCm39)	I1897S	unknown	Het
Hspa12a	T	C	19: 58,816,681 (GRCm39)		probably null	Het
Kcne1	G	T	16: 92,145,534 (GRCm39)	F103L	probably benign	Het
Lrrc20	A	T	10: 61,383,874 (GRCm39)	S94C	probably damaging	Het
Lrrc8a	A	G	2: 30,147,111 (GRCm39)	T642A	probably benign	Het
Ly6g5b	A	G	17: 35,333,494 (GRCm39)	L106P	probably benign	Het
Lyst	A	G	13: 13,810,423 (GRCm39)	S698G	probably benign	Het
Ndrg1	A	G	15: 66,802,900 (GRCm39)	V334A	probably benign	Het
Neb	A	T	2: 52,116,545 (GRCm39)	Y964*	probably null	Het
Or4c123	T	C	2: 89,126,689 (GRCm39)		probably benign	Het
Or8k3	A	T	2: 86,058,973 (GRCm39)	I114N	possibly damaging	Het
Parp10	A	G	15: 76,125,588 (GRCm39)	F497L	probably damaging	Het
Phactr3	C	T	2: 177,920,855 (GRCm39)	T231I	probably benign	Het
Plekhh2	A	T	17: 84,890,980 (GRCm39)		probably benign	Het
Ppp1r12c	A	C	7: 4,489,351 (GRCm39)		probably null	Het
Prdm2	G	T	4: 142,860,218 (GRCm39)	P1024H	probably damaging	Het
Prkacb	A	T	3: 146,461,448 (GRCm39)	M1K	probably null	Het
Prkdc	C	A	16: 15,653,030 (GRCm39)	P3835Q	probably damaging	Het
Rps27a	T	C	11: 29,496,353 (GRCm39)	T87A	probably benign	Het
Ryr2	T	A	13: 11,814,723 (GRCm39)	E683V	possibly damaging	Het
Sbk2	A	G	7: 4,960,528 (GRCm39)	L214P	probably damaging	Het
Sema4g	A	G	19: 44,985,835 (GRCm39)	S250G	probably benign	Het
Slc27a6	T	A	18: 58,742,281 (GRCm39)	D498E	probably benign	Het
Tarbp1	T	C	8: 127,154,894 (GRCm39)	D1410G	probably benign	Het
Tas2r134	T	A	2: 51,517,759 (GRCm39)	Y79*	probably null	Het
Tie1	T	C	4: 118,333,295 (GRCm39)	D857G	probably damaging	Het
Tnk2	A	G	16: 32,499,498 (GRCm39)	N432S	probably damaging	Het
Tubg2	C	A	11: 101,049,883 (GRCm39)	D176E	probably benign	Het
Ugt2b34	A	T	5: 87,039,264 (GRCm39)	W466R	probably damaging	Het
Usp47	T	A	7: 111,687,118 (GRCm39)	M692K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,807 (GRCm39)	K143E	probably benign	Het
Vmn2r118	G	A	17: 55,900,000 (GRCm39)	L635F	probably benign	Het
Vmn2r16	C	T	5: 109,510,267 (GRCm39)		probably benign	Het
Vmn2r76	A	T	7: 85,874,910 (GRCm39)	M689K	probably benign	Het
Xkr6	T	C	14: 64,056,325 (GRCm39)	Y79H	probably benign	Het
Zdhhc6	A	G	19: 55,298,186 (GRCm39)	F224L	probably benign	Het
Zfp493	T	G	13: 67,934,921 (GRCm39)	I291M	probably benign	Het

Other mutations in Pdss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-11-05