Incidental Mutation 'R1559:Ppox'
ID |
170467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppox
|
Ensembl Gene |
ENSMUSG00000062729 |
Gene Name |
protoporphyrinogen oxidase |
Synonyms |
|
MMRRC Submission |
039598-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.352)
|
Stock # |
R1559 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 171107580 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]
[ENSMUST00000149187]
[ENSMUST00000126699]
[ENSMUST00000192956]
|
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 |
noncoding transcript
Transcript: ENSMUST00000126557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133050
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000155083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153164
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174720
|
SMART Domains |
Protein: ENSMUSP00000133362 Gene: ENSMUSG00000053483
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
low complexity region
|
40 |
57 |
N/A |
INTRINSIC |
Pfam:UCH
|
77 |
162 |
4.6e-18 |
PFAM |
|
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.8%
|
Validation Efficiency |
95% (73/77) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,349,180 (GRCm39) |
W3585R |
probably null |
Het |
Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
Babam1 |
G |
C |
8: 71,850,424 (GRCm39) |
E18Q |
probably damaging |
Het |
Bcan |
G |
T |
3: 87,901,519 (GRCm39) |
S394R |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,999,232 (GRCm39) |
F4653L |
probably damaging |
Het |
Camsap2 |
A |
T |
1: 136,209,832 (GRCm39) |
H559Q |
probably benign |
Het |
Cars2 |
G |
T |
8: 11,580,430 (GRCm39) |
|
probably null |
Het |
Ccdc93 |
T |
A |
1: 121,389,712 (GRCm39) |
|
probably benign |
Het |
Ccna2 |
C |
A |
3: 36,624,879 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,803,037 (GRCm39) |
L326I |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,255,478 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
A |
3: 134,976,661 (GRCm39) |
S2423T |
probably benign |
Het |
Cftr |
A |
G |
6: 18,225,936 (GRCm39) |
M295V |
probably benign |
Het |
Cxcl2 |
A |
G |
5: 91,051,871 (GRCm39) |
H23R |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,291,181 (GRCm39) |
T370A |
probably damaging |
Het |
Daam2 |
A |
G |
17: 49,803,148 (GRCm39) |
|
probably benign |
Het |
Dclk3 |
T |
C |
9: 111,298,276 (GRCm39) |
F607L |
probably damaging |
Het |
Des |
T |
G |
1: 75,337,230 (GRCm39) |
S57A |
probably benign |
Het |
Drd1 |
A |
T |
13: 54,206,964 (GRCm39) |
S410T |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,082,941 (GRCm39) |
L639P |
probably damaging |
Het |
Fancm |
A |
G |
12: 65,140,463 (GRCm39) |
E395G |
probably benign |
Het |
Grik3 |
A |
G |
4: 125,601,790 (GRCm39) |
D889G |
probably benign |
Het |
Heyl |
A |
G |
4: 123,135,192 (GRCm39) |
S62G |
probably damaging |
Het |
Hmox1 |
C |
T |
8: 75,826,577 (GRCm39) |
P267L |
probably damaging |
Het |
Ifi213 |
A |
C |
1: 173,394,784 (GRCm39) |
S584A |
probably benign |
Het |
Il12rb2 |
G |
T |
6: 67,333,576 (GRCm39) |
F234L |
probably benign |
Het |
Il4i1 |
T |
A |
7: 44,488,811 (GRCm39) |
S233T |
probably damaging |
Het |
Itga4 |
A |
G |
2: 79,146,032 (GRCm39) |
S745G |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,830,918 (GRCm39) |
I734F |
possibly damaging |
Het |
Klk1b16 |
T |
C |
7: 43,790,425 (GRCm39) |
I200T |
probably benign |
Het |
Lrrc4c |
T |
A |
2: 97,461,117 (GRCm39) |
M581K |
probably benign |
Het |
M6pr |
A |
T |
6: 122,292,033 (GRCm39) |
I122L |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,954,169 (GRCm39) |
|
probably benign |
Het |
Mybpc2 |
T |
G |
7: 44,163,111 (GRCm39) |
T480P |
probably benign |
Het |
Or14c44 |
T |
C |
7: 86,061,575 (GRCm39) |
S43P |
probably benign |
Het |
Or1j17 |
A |
G |
2: 36,578,770 (GRCm39) |
Y252C |
probably damaging |
Het |
Or51ab3 |
A |
T |
7: 103,201,372 (GRCm39) |
I127F |
possibly damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,437 (GRCm39) |
N175S |
probably benign |
Het |
Pcx |
T |
A |
19: 4,669,114 (GRCm39) |
I704N |
probably damaging |
Het |
Pde3a |
G |
T |
6: 141,404,824 (GRCm39) |
A350S |
probably damaging |
Het |
Prb1a |
T |
A |
6: 132,185,507 (GRCm39) |
Y42F |
unknown |
Het |
Rsph4a |
T |
A |
10: 33,785,727 (GRCm39) |
V546E |
probably damaging |
Het |
Saxo4 |
T |
C |
19: 10,458,770 (GRCm39) |
T87A |
probably benign |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Sh3tc1 |
A |
G |
5: 35,860,693 (GRCm39) |
|
probably null |
Het |
Slc22a2 |
T |
C |
17: 12,803,298 (GRCm39) |
F44S |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,026,223 (GRCm39) |
D334V |
probably damaging |
Het |
Smim19 |
T |
C |
8: 22,953,352 (GRCm39) |
D105G |
probably damaging |
Het |
Smpdl3a |
A |
G |
10: 57,683,588 (GRCm39) |
T233A |
probably damaging |
Het |
St8sia5 |
G |
A |
18: 77,299,460 (GRCm39) |
|
probably null |
Het |
Stk32a |
C |
A |
18: 43,376,149 (GRCm39) |
Q73K |
probably benign |
Het |
Tmem129 |
G |
T |
5: 33,815,100 (GRCm39) |
|
probably null |
Het |
Traf3ip3 |
A |
T |
1: 192,860,599 (GRCm39) |
L441Q |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,731,305 (GRCm39) |
|
probably benign |
Het |
Unc45b |
T |
C |
11: 82,808,672 (GRCm39) |
S253P |
possibly damaging |
Het |
Vars2 |
A |
G |
17: 35,977,150 (GRCm39) |
|
probably benign |
Het |
Vmn2r51 |
C |
T |
7: 9,836,372 (GRCm39) |
M136I |
possibly damaging |
Het |
Vmn2r51 |
A |
G |
7: 9,836,373 (GRCm39) |
M136T |
possibly damaging |
Het |
Zfp595 |
T |
C |
13: 67,465,127 (GRCm39) |
I379V |
possibly damaging |
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 |
R0615:Ppox
|
UTSW |
1 |
171,105,387 (GRCm39) |
splice site |
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'- GGTTTGAGACCACCTCTGAGCAATG -3'
(R):5'- TGGAGTCTGAAGTCTTGCCTGTCC -3'
Sequencing Primer
(F):5'- TGAGCAATGTCACCTCAGGTC -3'
(R):5'- CCCAGAACAGGTTCCTGTATG -3'
|
Posted On |
2014-04-13 |