Incidental Mutation 'R1375:Pipox'
| ID |
157482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pipox
|
| Ensembl Gene |
ENSMUSG00000017453 |
| Gene Name |
pipecolic acid oxidase |
| Synonyms |
Pso |
| MMRRC Submission |
039439-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1375 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
77771440-77784698 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 77772036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 363
(E363*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017597]
|
| AlphaFold |
Q9D826 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017597
AA Change: E363*
|
| SMART Domains |
Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: E363*
| 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
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.8%
- 20x: 89.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,243,042 (GRCm39) |
V1268A |
possibly damaging |
Het |
| Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,225,354 (GRCm39) |
D78E |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,513,095 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Defb15 |
T |
C |
8: 22,420,071 (GRCm39) |
N19D |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,956,269 (GRCm39) |
G2083D |
probably damaging |
Het |
| Ggn |
T |
C |
7: 28,871,366 (GRCm39) |
S249P |
probably damaging |
Het |
| Gm17541 |
A |
T |
12: 4,739,825 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,268,435 (GRCm39) |
L514Q |
probably damaging |
Het |
| Heg1 |
C |
A |
16: 33,547,246 (GRCm39) |
H678N |
possibly damaging |
Het |
| Heg1 |
T |
C |
16: 33,547,679 (GRCm39) |
I846T |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,232,854 (GRCm39) |
|
probably null |
Het |
| Il17b |
T |
C |
18: 61,823,325 (GRCm39) |
V53A |
probably benign |
Het |
| Inpp5f |
T |
A |
7: 128,265,753 (GRCm39) |
L166* |
probably null |
Het |
| Mdfic2 |
C |
T |
6: 98,215,260 (GRCm39) |
C121Y |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,653,568 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
A |
G |
11: 76,941,543 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,177,006 (GRCm39) |
|
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,484,039 (GRCm39) |
N11S |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,081 (GRCm39) |
N129Y |
probably damaging |
Het |
| Or6b6 |
A |
G |
7: 106,571,305 (GRCm39) |
L82P |
probably damaging |
Het |
| Or6c211 |
A |
T |
10: 129,506,241 (GRCm39) |
L12Q |
probably null |
Het |
| Or8b46 |
T |
A |
9: 38,450,830 (GRCm39) |
V213D |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rpp30 |
T |
C |
19: 36,078,673 (GRCm39) |
|
probably null |
Het |
| Septin1 |
T |
C |
7: 126,817,333 (GRCm39) |
D25G |
probably damaging |
Het |
| Stk17b |
T |
C |
1: 53,805,106 (GRCm39) |
N152D |
possibly damaging |
Het |
| Tasor2 |
A |
G |
13: 3,626,029 (GRCm39) |
V1307A |
probably benign |
Het |
| Thsd7b |
A |
T |
1: 130,087,423 (GRCm39) |
N1180I |
probably damaging |
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 |
|
IGL02230:Pipox
|
APN |
11 |
77,772,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGTGATGGTGAATCTCGCTGAC -3'
(R):5'- ACTTGTGACAGGTGGCAATTTCTGG -3'
Sequencing Primer
(F):5'- TATGGGAGATTCCATTGAATCAGG -3'
(R):5'- GCTTTGGGATGAGACCATGAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation