Incidental Mutation 'IGL02802:Ppox'
| ID |
392065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppox
|
| Ensembl Gene |
ENSMUSG00000062729 |
| Gene Name |
protoporphyrinogen oxidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
IGL02802 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 171105066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 374
(L374*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000065941]
[ENSMUST00000073120]
[ENSMUST00000073120]
[ENSMUST00000111305]
[ENSMUST00000111306]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000192956]
[ENSMUST00000192956]
[ENSMUST00000149187]
[ENSMUST00000141114]
[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 null
Transcript: ENSMUST00000073120
AA Change: L401*
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: L401*
| 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 null
Transcript: ENSMUST00000073120
AA Change: L401*
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: L401*
| 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 null
Transcript: ENSMUST00000192956
AA Change: L374*
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: L374*
| 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 |
probably null
Transcript: ENSMUST00000192956
AA Change: L374*
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: L374*
| 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: ENSMUST00000132890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142656
|
| 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: ENSMUST00000141114
|
| SMART Domains |
Protein: ENSMUSP00000114560
Gene: ENSMUSG00000052423
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
104 |
139 |
2.6e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
C |
1: 130,671,130 (GRCm39) |
T451P |
probably benign |
Het |
| Actbl2 |
A |
G |
13: 111,392,310 (GRCm39) |
E215G |
probably damaging |
Het |
| Adh6b |
A |
G |
3: 138,058,545 (GRCm39) |
T198A |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,531,804 (GRCm39) |
K349E |
probably damaging |
Het |
| Bsnd |
T |
A |
4: 106,349,231 (GRCm39) |
D3V |
probably damaging |
Het |
| Cd83 |
T |
A |
13: 43,953,147 (GRCm39) |
L142Q |
probably null |
Het |
| Cdh20 |
A |
G |
1: 110,065,655 (GRCm39) |
E643G |
probably damaging |
Het |
| Ces1b |
T |
G |
8: 93,783,594 (GRCm39) |
E542A |
possibly damaging |
Het |
| Cfhr2 |
A |
G |
1: 139,738,762 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,769,186 (GRCm39) |
D471G |
probably damaging |
Het |
| Cntn5 |
C |
A |
9: 10,048,683 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,147,179 (GRCm39) |
D475V |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,679 (GRCm39) |
F906S |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 64,928,663 (GRCm39) |
S888T |
probably damaging |
Het |
| Csf2rb |
G |
A |
15: 78,223,103 (GRCm39) |
R105Q |
probably benign |
Het |
| Ctnnd1 |
C |
A |
2: 84,454,806 (GRCm39) |
M1I |
probably null |
Het |
| Cxxc1 |
C |
T |
18: 74,352,481 (GRCm39) |
Q354* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,304,930 (GRCm39) |
D324G |
possibly damaging |
Het |
| Donson |
T |
C |
16: 91,478,196 (GRCm39) |
D435G |
possibly damaging |
Het |
| Ephb1 |
T |
C |
9: 101,887,218 (GRCm39) |
K474E |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 104,004,638 (GRCm39) |
L130P |
probably damaging |
Het |
| Fam221a |
C |
T |
6: 49,355,411 (GRCm39) |
T171I |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,456,332 (GRCm39) |
E5G |
probably damaging |
Het |
| Fblim1 |
A |
G |
4: 141,317,431 (GRCm39) |
S85P |
possibly damaging |
Het |
| Fhl2 |
A |
T |
1: 43,162,761 (GRCm39) |
C251* |
probably null |
Het |
| Glis2 |
T |
C |
16: 4,429,735 (GRCm39) |
|
probably null |
Het |
| Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,031,999 (GRCm39) |
P127S |
probably benign |
Het |
| Heatr6 |
T |
C |
11: 83,651,762 (GRCm39) |
L246P |
probably damaging |
Het |
| Igkv5-39 |
G |
A |
6: 69,877,457 (GRCm39) |
P100S |
probably benign |
Het |
| Jup |
T |
C |
11: 100,269,204 (GRCm39) |
D403G |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,388,963 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcna3 |
G |
A |
3: 106,944,369 (GRCm39) |
E211K |
probably damaging |
Het |
| Klc3 |
A |
T |
7: 19,129,049 (GRCm39) |
I440N |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,709 (GRCm39) |
T280A |
probably benign |
Het |
| Nat3 |
A |
T |
8: 68,000,160 (GRCm39) |
Q13L |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,372,963 (GRCm39) |
N272S |
probably benign |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
T |
C |
8: 26,130,922 (GRCm39) |
S96P |
probably damaging |
Het |
| Ntaq1 |
A |
G |
15: 58,011,833 (GRCm39) |
S65G |
probably benign |
Het |
| Nudt16l1 |
C |
T |
16: 4,757,131 (GRCm39) |
R43C |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,891,310 (GRCm39) |
Q7074L |
unknown |
Het |
| Or4p20 |
A |
G |
2: 88,253,832 (GRCm39) |
V179A |
probably benign |
Het |
| Or5m12 |
A |
G |
2: 85,734,733 (GRCm39) |
S222P |
probably damaging |
Het |
| Or5p78 |
A |
T |
7: 108,211,669 (GRCm39) |
I52F |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,136 (GRCm39) |
|
probably null |
Het |
| Or8b37 |
T |
G |
9: 37,959,345 (GRCm39) |
Y276D |
probably damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,290 (GRCm39) |
N162K |
probably benign |
Het |
| P4htm |
C |
T |
9: 108,460,055 (GRCm39) |
D240N |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,369,835 (GRCm39) |
|
probably benign |
Het |
| Plppr5 |
T |
C |
3: 117,456,228 (GRCm39) |
S250P |
probably damaging |
Het |
| Pmis2 |
T |
C |
7: 30,370,919 (GRCm39) |
K12E |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Tdo2 |
A |
G |
3: 81,883,004 (GRCm39) |
|
probably benign |
Het |
| Tent2 |
A |
T |
13: 93,285,449 (GRCm39) |
N436K |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,904,389 (GRCm39) |
I326T |
probably benign |
Het |
| Thrap3 |
T |
C |
4: 126,059,157 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,622,654 (GRCm39) |
M18L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,604,924 (GRCm39) |
V18337I |
probably damaging |
Het |
| Txndc2 |
A |
G |
17: 65,946,601 (GRCm39) |
S34P |
possibly damaging |
Het |
| Vps72 |
T |
A |
3: 95,026,545 (GRCm39) |
C163* |
probably null |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
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 |
|
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 |
|
|
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'- TGGCCTATTGTATACTGAGGGATAC -3'
(R):5'- AAGCCTCAGAGTGACTGTGAG -3'
Sequencing Primer
(F):5'- GTATACTGAGGGATACAGTTCTAAGG -3'
(R):5'- TGACTGTGAGAGGAAGCATGGC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation