Incidental Mutation 'R6123:Pcyox1'
| ID |
485828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcyox1
|
| Ensembl Gene |
ENSMUSG00000029998 |
| Gene Name |
prenylcysteine oxidase 1 |
| Synonyms |
1200015P13Rik, PCL1, Pcly |
| MMRRC Submission |
044270-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
86362988-86374132 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86365910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 435
(S435P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032065]
[ENSMUST00000153723]
[ENSMUST00000204116]
|
| AlphaFold |
Q9CQF9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032065
AA Change: S435P
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032065
Gene: ENSMUSG00000029998
AA Change: S435P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:NAD_binding_8
|
39 |
106 |
8.2e-13 |
PFAM |
|
Pfam:Amino_oxidase
|
44 |
346 |
7.1e-9 |
PFAM |
|
Pfam:Prenylcys_lyase
|
128 |
501 |
8.1e-157 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131500
|
| SMART Domains |
Protein: ENSMUSP00000122602
Gene: ENSMUSG00000029998
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prenylcys_lyase
|
1 |
73 |
6.1e-25 |
PFAM |
|
Pfam:Prenylcys_lyase
|
69 |
197 |
7.1e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153723
|
| SMART Domains |
Protein: ENSMUSP00000119449
Gene: ENSMUSG00000029998
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Prenylcys_lyase
|
59 |
181 |
5.5e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204116
|
| SMART Domains |
Protein: ENSMUSP00000145474
Gene: ENSMUSG00000029998
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:NAD_binding_8
|
39 |
106 |
4.9e-12 |
PFAM |
|
Pfam:Amino_oxidase
|
44 |
136 |
3.3e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and free of obvious pathology despite a striking accumulation of both farnesylcysteine and geranylgeranylcysteine in brain and liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
A |
G |
4: 152,284,402 (GRCm39) |
E24G |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,575,584 (GRCm39) |
E272G |
probably damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,487,091 (GRCm39) |
N270I |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,763,179 (GRCm39) |
|
probably benign |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,510,595 (GRCm39) |
R504I |
possibly damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,060 (GRCm39) |
R408G |
probably benign |
Het |
| Clba1 |
T |
C |
12: 112,774,530 (GRCm39) |
F153L |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,406,266 (GRCm39) |
*502R |
probably null |
Het |
| Dido1 |
A |
T |
2: 180,325,760 (GRCm39) |
V476E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,409,185 (GRCm39) |
K398E |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,737,565 (GRCm39) |
Y392C |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 140,010,309 (GRCm39) |
D9V |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,357 (GRCm39) |
Q82R |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Gm14496 |
T |
A |
2: 181,633,020 (GRCm39) |
M1K |
probably null |
Het |
| Gm6665 |
A |
G |
18: 31,952,937 (GRCm39) |
M79T |
probably benign |
Het |
| Gna15 |
A |
G |
10: 81,345,178 (GRCm39) |
L229P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,404,532 (GRCm39) |
T4451A |
probably damaging |
Het |
| Igf2bp1 |
A |
G |
11: 95,866,122 (GRCm39) |
V122A |
probably damaging |
Het |
| Ighv5-4 |
A |
T |
12: 113,561,313 (GRCm39) |
S36T |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,320,861 (GRCm39) |
V186A |
probably benign |
Het |
| Jrk |
A |
G |
15: 74,578,529 (GRCm39) |
I252T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,134,365 (GRCm39) |
S395G |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,290,718 (GRCm39) |
P103S |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,256,339 (GRCm39) |
K105R |
probably benign |
Het |
| P4ha1 |
A |
T |
10: 59,186,349 (GRCm39) |
K276I |
possibly damaging |
Het |
| Potegl |
T |
C |
2: 23,120,134 (GRCm39) |
Y235H |
possibly damaging |
Het |
| Pramel26 |
A |
T |
4: 143,539,334 (GRCm39) |
M53K |
possibly damaging |
Het |
| R3hdm1 |
A |
T |
1: 128,096,773 (GRCm39) |
N103I |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,302,339 (GRCm39) |
V421A |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,402,705 (GRCm39) |
|
probably null |
Het |
| Scaf11 |
A |
G |
15: 96,318,335 (GRCm39) |
S410P |
probably benign |
Het |
| Slc16a1 |
A |
G |
3: 104,560,510 (GRCm39) |
T272A |
probably benign |
Het |
| Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
| Slitrk3 |
T |
C |
3: 72,957,095 (GRCm39) |
D559G |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,707,857 (GRCm39) |
G207D |
probably damaging |
Het |
| Spata31f1e |
A |
G |
4: 42,793,065 (GRCm39) |
S356P |
possibly damaging |
Het |
| Spdye4a |
T |
C |
5: 143,211,473 (GRCm39) |
I30M |
possibly damaging |
Het |
| Thumpd1 |
A |
T |
7: 119,316,232 (GRCm39) |
V239E |
probably damaging |
Het |
| Tnfsf15 |
T |
C |
4: 63,663,162 (GRCm39) |
S54G |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,882,951 (GRCm39) |
I299T |
probably damaging |
Het |
| Tpst2 |
C |
T |
5: 112,456,084 (GRCm39) |
R208C |
probably damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,587,510 (GRCm39) |
Y285C |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,206,959 (GRCm39) |
S1105P |
probably damaging |
Het |
|
| Other mutations in Pcyox1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Pcyox1
|
APN |
6 |
86,365,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Pcyox1
|
APN |
6 |
86,369,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02655:Pcyox1
|
APN |
6 |
86,366,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Pcyox1
|
UTSW |
6 |
86,371,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Pcyox1
|
UTSW |
6 |
86,366,212 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4631:Pcyox1
|
UTSW |
6 |
86,366,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4976:Pcyox1
|
UTSW |
6 |
86,365,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5227:Pcyox1
|
UTSW |
6 |
86,368,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Pcyox1
|
UTSW |
6 |
86,369,336 (GRCm39) |
splice site |
probably null |
|
|
R5408:Pcyox1
|
UTSW |
6 |
86,369,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Pcyox1
|
UTSW |
6 |
86,368,656 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6002:Pcyox1
|
UTSW |
6 |
86,369,164 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6290:Pcyox1
|
UTSW |
6 |
86,365,881 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6766:Pcyox1
|
UTSW |
6 |
86,371,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7047:Pcyox1
|
UTSW |
6 |
86,365,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7066:Pcyox1
|
UTSW |
6 |
86,371,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Pcyox1
|
UTSW |
6 |
86,371,519 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7268:Pcyox1
|
UTSW |
6 |
86,368,713 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7445:Pcyox1
|
UTSW |
6 |
86,368,661 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7870:Pcyox1
|
UTSW |
6 |
86,369,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8050:Pcyox1
|
UTSW |
6 |
86,366,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8253:Pcyox1
|
UTSW |
6 |
86,366,044 (GRCm39) |
missense |
probably benign |
|
|
R9296:Pcyox1
|
UTSW |
6 |
86,368,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Pcyox1
|
UTSW |
6 |
86,369,241 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAATCATGTCCTCATTGCCG -3'
(R):5'- ACCCAAGGATCAGTTTGGCC -3'
Sequencing Primer
(F):5'- CGTTCCAGCGGTGGTAG -3'
(R):5'- CAAGGATCAGTTTGGCCTCTCG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation