Incidental Mutation 'R4302:Pdss1'
| ID |
322443 |
| 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 |
041089-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
22785534-22830278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22805517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 265
(I265T)
|
| 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: I265T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055689
Gene: ENSMUSG00000026784
AA Change: I265T
| 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: ENSMUST00000121960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148072
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152170
AA Change: I265T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121873
Gene: ENSMUSG00000026784
AA Change: I265T
| 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 |
0.4414 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (42/42) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,929,645 (GRCm39) |
Q217* |
probably null |
Het |
| Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
| Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
| Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,823,664 (GRCm39) |
I183V |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,077,880 (GRCm39) |
S2941T |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Hcfc1 |
A |
G |
X: 72,992,972 (GRCm39) |
S1398P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,226,171 (GRCm39) |
I2501V |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
| Mgam |
A |
G |
6: 40,740,019 (GRCm39) |
D1664G |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,456 (GRCm39) |
T179S |
probably damaging |
Het |
| Ncf4 |
T |
C |
15: 78,144,962 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,824,341 (GRCm39) |
S154P |
probably damaging |
Het |
| Nup58 |
A |
G |
14: 60,484,875 (GRCm39) |
S50P |
probably benign |
Het |
| Or11j4 |
T |
C |
14: 50,630,903 (GRCm39) |
I230T |
probably benign |
Het |
| Or12d16-ps1 |
T |
A |
17: 37,706,377 (GRCm39) |
N315K |
probably benign |
Het |
| Or7g30 |
A |
G |
9: 19,352,295 (GRCm39) |
T29A |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
| Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,090,270 (GRCm39) |
T631A |
probably benign |
Het |
| Rps11 |
T |
C |
7: 44,772,368 (GRCm39) |
M80V |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,097,031 (GRCm39) |
Y104H |
probably benign |
Het |
| Sgsm3 |
T |
A |
15: 80,894,502 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,365,154 (GRCm39) |
L162F |
probably benign |
Het |
| Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
| Stk24 |
A |
G |
14: 121,529,494 (GRCm39) |
L386S |
probably benign |
Het |
| Tfcp2 |
G |
T |
15: 100,412,730 (GRCm39) |
N307K |
possibly damaging |
Het |
| Trbv21 |
T |
A |
6: 41,179,702 (GRCm39) |
V6D |
probably benign |
Het |
| Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,562 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
A |
16: 21,314,664 (GRCm39) |
L158Q |
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 |
|
|
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 |
|
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'- CAGCTGTTGTATCTATGTTAGCCC -3'
(R):5'- ACAACAAAGTGTCTGGGACG -3'
Sequencing Primer
(F):5'- AGCCCAAGTTATTGAAGATTTGGTGC -3'
(R):5'- CTGGGACGTAATGGTTTCTCTATGAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation