Incidental Mutation 'IGL02036:Pcyox1l'
| ID |
184531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcyox1l
|
| Ensembl Gene |
ENSMUSG00000024579 |
| Gene Name |
prenylcysteine oxidase 1 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02036
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61829908-61840706 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 61840607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025472]
[ENSMUST00000062991]
[ENSMUST00000195229]
|
| AlphaFold |
Q8C7K6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025472
AA Change: T16A
|
| SMART Domains |
Protein: ENSMUSP00000025472
Gene: ENSMUSG00000024579
AA Change: T16A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:NAD_binding_8
|
31 |
98 |
2.8e-12 |
PFAM |
|
Pfam:Amino_oxidase
|
36 |
380 |
3.5e-11 |
PFAM |
|
Pfam:Prenylcys_lyase
|
120 |
491 |
1.3e-145 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062991
|
| SMART Domains |
Protein: ENSMUSP00000053440
Gene: ENSMUSG00000024580
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GrpE
|
44 |
218 |
1.8e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154763
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195229
AA Change: T16A
|
| SMART Domains |
Protein: ENSMUSP00000142249
Gene: ENSMUSG00000024579
AA Change: T16A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DAO
|
28 |
108 |
2.7e-6 |
PFAM |
|
Pfam:NAD_binding_8
|
31 |
99 |
2e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep290 |
T |
A |
10: 100,393,962 (GRCm39) |
C2056* |
probably null |
Het |
| Cyp2c38 |
T |
A |
19: 39,448,760 (GRCm39) |
D143V |
probably null |
Het |
| Ddx10 |
T |
C |
9: 53,115,483 (GRCm39) |
K617R |
probably benign |
Het |
| Dgat2l6 |
T |
A |
X: 99,589,199 (GRCm39) |
I336N |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,413,818 (GRCm39) |
I1906M |
probably benign |
Het |
| Dpep3 |
T |
G |
8: 106,700,417 (GRCm39) |
T430P |
probably benign |
Het |
| Dph1 |
T |
C |
11: 75,074,991 (GRCm39) |
|
probably null |
Het |
| Epha7 |
T |
C |
4: 28,950,509 (GRCm39) |
S775P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,010,571 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,836,950 (GRCm39) |
V290M |
possibly damaging |
Het |
| Hdx |
T |
A |
X: 110,569,564 (GRCm39) |
T342S |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,416,650 (GRCm39) |
|
probably benign |
Het |
| Itgad |
A |
G |
7: 127,788,993 (GRCm39) |
T515A |
possibly damaging |
Het |
| Kcnc2 |
T |
A |
10: 112,291,831 (GRCm39) |
S340T |
possibly damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,576 (GRCm39) |
T830I |
possibly damaging |
Het |
| Lrch1 |
G |
A |
14: 75,032,733 (GRCm39) |
|
probably benign |
Het |
| Mag |
C |
T |
7: 30,607,877 (GRCm39) |
V295M |
probably damaging |
Het |
| Mmp16 |
T |
A |
4: 18,093,371 (GRCm39) |
D375E |
probably benign |
Het |
| Or2h2 |
A |
G |
17: 37,396,559 (GRCm39) |
F166S |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,923 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or4c111 |
A |
G |
2: 88,843,823 (GRCm39) |
V195A |
probably benign |
Het |
| Secisbp2l |
A |
G |
2: 125,600,127 (GRCm39) |
S403P |
probably benign |
Het |
| Sh3tc2 |
T |
A |
18: 62,147,978 (GRCm39) |
H1229Q |
probably benign |
Het |
| Svep1 |
A |
C |
4: 58,088,245 (GRCm39) |
W1735G |
possibly damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,998,091 (GRCm39) |
C220S |
probably benign |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Ywhag |
A |
G |
5: 135,940,348 (GRCm39) |
V82A |
probably benign |
Het |
|
| Other mutations in Pcyox1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Pcyox1l
|
APN |
18 |
61,830,613 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02478:Pcyox1l
|
APN |
18 |
61,830,780 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0036:Pcyox1l
|
UTSW |
18 |
61,830,492 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0325:Pcyox1l
|
UTSW |
18 |
61,830,964 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1726:Pcyox1l
|
UTSW |
18 |
61,830,849 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4457:Pcyox1l
|
UTSW |
18 |
61,830,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4763:Pcyox1l
|
UTSW |
18 |
61,830,850 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4811:Pcyox1l
|
UTSW |
18 |
61,830,606 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4876:Pcyox1l
|
UTSW |
18 |
61,832,565 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4983:Pcyox1l
|
UTSW |
18 |
61,832,468 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5390:Pcyox1l
|
UTSW |
18 |
61,832,433 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5813:Pcyox1l
|
UTSW |
18 |
61,832,359 (GRCm39) |
splice site |
probably null |
|
|
R5933:Pcyox1l
|
UTSW |
18 |
61,831,544 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7018:Pcyox1l
|
UTSW |
18 |
61,840,625 (GRCm39) |
unclassified |
probably benign |
|
|
R7356:Pcyox1l
|
UTSW |
18 |
61,840,621 (GRCm39) |
missense |
probably null |
|
|
R7384:Pcyox1l
|
UTSW |
18 |
61,831,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Pcyox1l
|
UTSW |
18 |
61,830,712 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8125:Pcyox1l
|
UTSW |
18 |
61,840,576 (GRCm39) |
missense |
unknown |
|
|
R9173:Pcyox1l
|
UTSW |
18 |
61,830,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation