Incidental Mutation 'IGL02230:Pipox'
| ID |
285671 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pipox
|
| Ensembl Gene |
ENSMUSG00000017453 |
| Gene Name |
pipecolic acid oxidase |
| Synonyms |
Pso |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02230
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
77771440-77784698 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77772032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 364
(L364P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017597]
|
| AlphaFold |
Q9D826 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017597
AA Change: L364P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: L364P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
9 |
364 |
3.1e-49 |
PFAM |
|
Pfam:NAD_binding_8
|
12 |
54 |
1.2e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155401
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,218,604 (GRCm39) |
T727S |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,291,193 (GRCm39) |
I374F |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,079,916 (GRCm39) |
N399S |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,190 (GRCm39) |
E317G |
probably damaging |
Het |
| Gm10030 |
T |
A |
9: 110,835,458 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4884 |
A |
T |
7: 40,692,829 (GRCm39) |
Q266L |
probably damaging |
Het |
| Gpr45 |
C |
A |
1: 43,071,816 (GRCm39) |
A153E |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,903,682 (GRCm39) |
F991L |
probably benign |
Het |
| Hif1a |
T |
G |
12: 73,979,224 (GRCm39) |
D249E |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,875,743 (GRCm39) |
L194P |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,245,956 (GRCm39) |
S947P |
probably damaging |
Het |
| Kng1 |
G |
T |
16: 22,879,244 (GRCm39) |
|
probably null |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc4 |
T |
A |
6: 28,830,879 (GRCm39) |
K245N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,702,197 (GRCm39) |
R335* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,614,801 (GRCm39) |
|
probably benign |
Het |
| Ncbp1 |
C |
A |
4: 46,165,272 (GRCm39) |
N528K |
probably benign |
Het |
| Or10a2 |
A |
G |
7: 106,673,700 (GRCm39) |
I222V |
probably damaging |
Het |
| Or7a41 |
T |
A |
10: 78,870,876 (GRCm39) |
M82K |
probably damaging |
Het |
| R3hdm4 |
C |
A |
10: 79,747,925 (GRCm39) |
A206S |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,136,145 (GRCm39) |
I589T |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Sdr16c5 |
T |
C |
4: 4,016,354 (GRCm39) |
E24G |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,599,861 (GRCm39) |
I815V |
possibly damaging |
Het |
| Serpina16 |
A |
G |
12: 103,641,561 (GRCm39) |
Y55H |
probably damaging |
Het |
| Sirt2 |
C |
T |
7: 28,478,371 (GRCm39) |
R83C |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,752,195 (GRCm39) |
|
probably null |
Het |
| Stmn1 |
A |
G |
4: 134,200,224 (GRCm39) |
E99G |
probably damaging |
Het |
| Tas2r103 |
T |
C |
6: 133,014,019 (GRCm39) |
I16V |
possibly damaging |
Het |
| Vit |
A |
G |
17: 78,927,056 (GRCm39) |
K334E |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,417,233 (GRCm39) |
I876T |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,807,591 (GRCm39) |
V289D |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Pipox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01597:Pipox
|
APN |
11 |
77,774,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
pickled
|
UTSW |
11 |
77,772,005 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4519001:Pipox
|
UTSW |
11 |
77,774,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Pipox
|
UTSW |
11 |
77,782,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Pipox
|
UTSW |
11 |
77,774,651 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1375:Pipox
|
UTSW |
11 |
77,772,036 (GRCm39) |
nonsense |
probably null |
|
|
R1809:Pipox
|
UTSW |
11 |
77,772,360 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1834:Pipox
|
UTSW |
11 |
77,772,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Pipox
|
UTSW |
11 |
77,773,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Pipox
|
UTSW |
11 |
77,782,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Pipox
|
UTSW |
11 |
77,784,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6480:Pipox
|
UTSW |
11 |
77,773,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6586:Pipox
|
UTSW |
11 |
77,772,005 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6883:Pipox
|
UTSW |
11 |
77,774,729 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6918:Pipox
|
UTSW |
11 |
77,772,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Pipox
|
UTSW |
11 |
77,772,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8140:Pipox
|
UTSW |
11 |
77,774,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8265:Pipox
|
UTSW |
11 |
77,774,793 (GRCm39) |
missense |
probably benign |
|
|
R8725:Pipox
|
UTSW |
11 |
77,774,804 (GRCm39) |
nonsense |
probably null |
|
|
R9049:Pipox
|
UTSW |
11 |
77,772,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9239:Pipox
|
UTSW |
11 |
77,774,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9491:Pipox
|
UTSW |
11 |
77,772,359 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Pipox
|
UTSW |
11 |
77,772,356 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2015-04-16 |
Incidental Mutation