Incidental Mutation 'R0615:Ppox'
| ID |
54987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppox
|
| Ensembl Gene |
ENSMUSG00000062729 |
| Gene Name |
protoporphyrinogen oxidase |
| Synonyms |
|
| MMRRC Submission |
038804-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R0615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 171105387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000065941]
[ENSMUST00000073120]
[ENSMUST00000111305]
[ENSMUST00000111306]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000192956]
[ENSMUST00000149187]
[ENSMUST00000151863]
|
| AlphaFold |
P51175 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064272
|
| SMART Domains |
Protein: ENSMUSP00000066353
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
79 |
212 |
1.7e-59 |
PFAM |
|
Pfam:Glyco_transf_7C
|
217 |
294 |
6.3e-32 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065941
|
| SMART Domains |
Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
556 |
9.4e-66 |
PFAM |
|
Pfam:UCH_1
|
212 |
538 |
9.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073120
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
7 |
74 |
1.3e-9 |
PFAM |
|
Pfam:Amino_oxidase
|
12 |
471 |
1.7e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111305
|
| SMART Domains |
Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
556 |
9.4e-66 |
PFAM |
|
Pfam:UCH_1
|
212 |
538 |
9.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111306
|
| SMART Domains |
Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
559 |
4.1e-60 |
PFAM |
|
Pfam:UCH_1
|
215 |
541 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111313
|
| SMART Domains |
Protein: ENSMUSP00000106945
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
79 |
214 |
2.1e-74 |
PFAM |
|
Pfam:Glyco_transf_7C
|
217 |
294 |
1.7e-31 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
238 |
298 |
1e-6 |
PFAM |
|
low complexity region
|
348 |
364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126699
|
| SMART Domains |
Protein: ENSMUSP00000141958
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7C
|
1 |
72 |
3.2e-28 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
16 |
76 |
2.1e-5 |
PFAM |
|
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192956
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_8
|
7 |
72 |
1.6e-7 |
PFAM |
|
Pfam:Amino_oxidase
|
12 |
389 |
4.7e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126729
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149187
|
| SMART Domains |
Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
63 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
160 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
211 |
438 |
1e-36 |
PFAM |
|
Pfam:UCH_1
|
212 |
436 |
2.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for the R59W knock-in mutation exhibit elevated stool porphyrin levels and reduced hepatic protoporphyrinogen oxidase activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
C |
19: 42,040,962 (GRCm39) |
I31T |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,206,197 (GRCm39) |
I166V |
probably damaging |
Het |
| Acaa2 |
G |
T |
18: 74,931,517 (GRCm39) |
V238L |
probably benign |
Het |
| Ahsg |
A |
T |
16: 22,717,805 (GRCm39) |
I296F |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,415,027 (GRCm39) |
V1436D |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,115,563 (GRCm39) |
|
probably benign |
Het |
| Atosa |
T |
A |
9: 74,911,570 (GRCm39) |
Y14N |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,059,627 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
A |
T |
7: 7,005,402 (GRCm39) |
I223L |
possibly damaging |
Het |
| Bckdha |
G |
T |
7: 25,341,210 (GRCm39) |
D50E |
probably benign |
Het |
| Brf2 |
C |
T |
8: 27,614,059 (GRCm39) |
E376K |
probably benign |
Het |
| Cdk9 |
C |
A |
2: 32,599,813 (GRCm39) |
L141F |
possibly damaging |
Het |
| Cgn |
A |
C |
3: 94,678,024 (GRCm39) |
|
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,282,509 (GRCm39) |
V526I |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,334,141 (GRCm39) |
V343A |
possibly damaging |
Het |
| Commd2 |
A |
T |
3: 57,554,116 (GRCm39) |
V195D |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,365,063 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
C |
T |
2: 118,266,666 (GRCm39) |
T729M |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,871,954 (GRCm39) |
V347E |
probably damaging |
Het |
| Fam209 |
T |
C |
2: 172,316,053 (GRCm39) |
S143P |
probably benign |
Het |
| Fam20c |
G |
A |
5: 138,793,241 (GRCm39) |
R454Q |
probably damaging |
Het |
| Faxc |
C |
T |
4: 21,958,608 (GRCm39) |
S255L |
probably benign |
Het |
| Fem1al |
C |
A |
11: 29,774,515 (GRCm39) |
R314L |
probably damaging |
Het |
| Foxj1 |
T |
C |
11: 116,224,908 (GRCm39) |
D153G |
possibly damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
A |
14: 102,114,295 (GRCm39) |
Y12* |
probably null |
Het |
| Matn3 |
T |
G |
12: 9,013,594 (GRCm39) |
C425W |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,550,668 (GRCm39) |
M190K |
probably benign |
Het |
| Morn2 |
A |
T |
17: 80,603,026 (GRCm39) |
T102S |
probably damaging |
Het |
| Nr3c2 |
A |
C |
8: 77,912,518 (GRCm39) |
T710P |
probably benign |
Het |
| Nrros |
C |
A |
16: 31,962,903 (GRCm39) |
L343F |
probably damaging |
Het |
| Ntrk2 |
C |
T |
13: 59,276,000 (GRCm39) |
Q767* |
probably null |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,452,264 (GRCm39) |
D52N |
possibly damaging |
Het |
| Plekhf2 |
C |
T |
4: 10,991,330 (GRCm39) |
R4H |
probably benign |
Het |
| Qprt |
T |
A |
7: 126,708,248 (GRCm39) |
D61V |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,148 (GRCm39) |
V1101A |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,548,202 (GRCm39) |
N124D |
probably damaging |
Het |
| Scx |
C |
T |
15: 76,342,295 (GRCm39) |
P165L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,055 (GRCm39) |
|
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,281,336 (GRCm39) |
F92L |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,910,936 (GRCm39) |
N236K |
probably damaging |
Het |
| Tbc1d32 |
C |
A |
10: 56,100,736 (GRCm39) |
D81Y |
probably benign |
Het |
| Terf2 |
G |
A |
8: 107,809,622 (GRCm39) |
T232I |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,143,744 (GRCm39) |
E50G |
probably damaging |
Het |
| Tprn |
A |
G |
2: 25,154,210 (GRCm39) |
E504G |
probably damaging |
Het |
| Tufm |
G |
T |
7: 126,086,654 (GRCm39) |
R12L |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,947,195 (GRCm39) |
F519S |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,145,590 (GRCm39) |
V89A |
probably benign |
Het |
| Wnt3 |
T |
C |
11: 103,703,207 (GRCm39) |
I230T |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,466,693 (GRCm39) |
F388Y |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,421 (GRCm39) |
L25F |
probably benign |
Het |
|
| Other mutations in Ppox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Ppox
|
APN |
1 |
171,105,453 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01818:Ppox
|
APN |
1 |
171,108,318 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01899:Ppox
|
APN |
1 |
171,104,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01931:Ppox
|
APN |
1 |
171,105,456 (GRCm39) |
missense |
probably null |
0.51 |
|
IGL02802:Ppox
|
UTSW |
1 |
171,105,066 (GRCm39) |
nonsense |
probably null |
|
|
R0131:Ppox
|
UTSW |
1 |
171,106,849 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0131:Ppox
|
UTSW |
1 |
171,106,849 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0132:Ppox
|
UTSW |
1 |
171,106,849 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0184:Ppox
|
UTSW |
1 |
171,107,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Ppox
|
UTSW |
1 |
171,105,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Ppox
|
UTSW |
1 |
171,106,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Ppox
|
UTSW |
1 |
171,107,580 (GRCm39) |
intron |
probably benign |
|
|
R3687:Ppox
|
UTSW |
1 |
171,105,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Ppox
|
UTSW |
1 |
171,105,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5037:Ppox
|
UTSW |
1 |
171,105,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5599:Ppox
|
UTSW |
1 |
171,105,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Ppox
|
UTSW |
1 |
171,107,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5791:Ppox
|
UTSW |
1 |
171,104,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5892:Ppox
|
UTSW |
1 |
171,105,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7564:Ppox
|
UTSW |
1 |
171,107,765 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7937:Ppox
|
UTSW |
1 |
171,107,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7949:Ppox
|
UTSW |
1 |
171,105,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9065:Ppox
|
UTSW |
1 |
171,105,447 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9417:Ppox
|
UTSW |
1 |
171,107,855 (GRCm39) |
missense |
unknown |
|
|
Z1177:Ppox
|
UTSW |
1 |
171,108,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCTGTAGCCAGTAACCTCCC -3'
(R):5'- AGCCTAGAATGAACGCCTGCTCTC -3'
Sequencing Primer
(F):5'- TCACCTACGAGGAGACGC -3'
(R):5'- AGCTCAGCAAGCTGCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation