Incidental Mutation 'R2430:Pdss1'
ID |
250362 |
Institutional Source |
Beutler Lab
|
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)
|
Stock # |
R2430 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
22785534-22830278 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 22819605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 289
(Y289*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053729]
|
AlphaFold |
Q33DR2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053729
AA Change: Y289*
|
SMART Domains |
Protein: ENSMUSP00000055689 Gene: ENSMUSG00000026784 AA Change: Y289*
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: ENSMUST00000139472
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arc |
T |
C |
15: 74,543,740 (GRCm39) |
E161G |
probably benign |
Het |
Ass1 |
A |
G |
2: 31,391,508 (GRCm39) |
H261R |
probably damaging |
Het |
Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
Klhl40 |
A |
G |
9: 121,609,667 (GRCm39) |
D484G |
possibly damaging |
Het |
Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
Nipsnap2 |
A |
G |
5: 129,821,855 (GRCm39) |
D117G |
possibly damaging |
Het |
Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
Or5w16 |
T |
A |
2: 87,576,999 (GRCm39) |
M153K |
possibly damaging |
Het |
Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
Reck |
C |
T |
4: 43,930,202 (GRCm39) |
T592I |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
probably damaging |
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 |
|
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 |
|
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'- TAGTGCCAGCATCCCCATTG -3'
(R):5'- GCTATGCCTAGCTTCAGGTC -3'
Sequencing Primer
(F):5'- AGCATCCCCATTGTCTATAGCATAGG -3'
(R):5'- TTGCCCATCTGGTCAGAACATGAG -3'
|
Posted On |
2014-11-12 |