Incidental Mutation 'R5892:Ppox'
ID |
457226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppox
|
Ensembl Gene |
ENSMUSG00000062729 |
Gene Name |
protoporphyrinogen oxidase |
Synonyms |
|
MMRRC Submission |
044093-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.329)
|
Stock # |
R5892 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 171105034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 385
(V385I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000065941]
[ENSMUST00000073120]
[ENSMUST00000111305]
[ENSMUST00000111306]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000192956]
[ENSMUST00000151863]
[ENSMUST00000149187]
[ENSMUST00000141114]
|
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 |
possibly damaging
Transcript: ENSMUST00000073120
AA Change: V412I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000072863 Gene: ENSMUSG00000062729 AA Change: V412I
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 |
noncoding transcript
Transcript: ENSMUST00000155083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152689
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192956
AA Change: V385I
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141835 Gene: ENSMUSG00000062729 AA Change: V385I
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: ENSMUST00000142656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126765
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132890
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145019
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151442
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151863
|
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 |
|
Meta Mutation Damage Score |
0.5859 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
98% (56/57) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930524J08Rik |
G |
T |
5: 100,127,124 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,091,844 (GRCm39) |
A893T |
probably damaging |
Het |
Adtrp |
A |
T |
13: 41,981,682 (GRCm39) |
N30K |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,597,885 (GRCm39) |
S904T |
probably damaging |
Het |
Cep170 |
T |
A |
1: 176,582,953 (GRCm39) |
|
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,946,994 (GRCm39) |
V145A |
probably damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,572 (GRCm39) |
E4G |
probably benign |
Het |
Depdc1a |
G |
C |
3: 159,232,306 (GRCm39) |
A686P |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,376,753 (GRCm39) |
|
probably null |
Het |
Enox1 |
A |
G |
14: 77,723,457 (GRCm39) |
|
probably benign |
Het |
Fam107b |
A |
G |
2: 3,779,601 (GRCm39) |
E268G |
probably damaging |
Het |
Fer1l6 |
A |
G |
15: 58,435,917 (GRCm39) |
S437G |
probably benign |
Het |
Flnb |
C |
A |
14: 7,907,183 (GRCm38) |
T1252K |
probably damaging |
Het |
Fubp1 |
A |
G |
3: 151,923,951 (GRCm39) |
|
probably benign |
Het |
Gm20402 |
G |
A |
3: 52,176,370 (GRCm39) |
A50T |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gzmk |
C |
T |
13: 113,310,456 (GRCm39) |
|
probably null |
Het |
Ino80 |
A |
T |
2: 119,270,028 (GRCm39) |
|
probably benign |
Het |
Ints8 |
T |
C |
4: 11,223,813 (GRCm39) |
T677A |
probably damaging |
Het |
Kat6a |
A |
G |
8: 23,428,305 (GRCm39) |
E1220G |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,890,204 (GRCm39) |
T498A |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,273,120 (GRCm39) |
T4043S |
probably benign |
Het |
Malrd1 |
A |
G |
2: 15,619,078 (GRCm39) |
N314S |
probably benign |
Het |
Mfsd1 |
A |
G |
3: 67,497,162 (GRCm39) |
|
probably null |
Het |
Muc1 |
C |
T |
3: 89,138,300 (GRCm39) |
P381S |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,076,002 (GRCm39) |
K730* |
probably null |
Het |
Nat3 |
T |
A |
8: 68,000,590 (GRCm39) |
N156K |
probably benign |
Het |
Nelfe |
T |
C |
17: 35,073,645 (GRCm39) |
|
probably benign |
Het |
Nlrp1a |
A |
T |
11: 70,990,471 (GRCm39) |
L927Q |
probably damaging |
Het |
P4ha2 |
A |
G |
11: 54,011,014 (GRCm39) |
Y343C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,571,185 (GRCm39) |
Q190L |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,945,439 (GRCm39) |
N183S |
probably damaging |
Het |
Plekha2 |
C |
T |
8: 25,542,381 (GRCm39) |
V278I |
probably benign |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
Prdm16 |
T |
C |
4: 154,407,716 (GRCm39) |
D1170G |
possibly damaging |
Het |
Prmt5 |
A |
T |
14: 54,747,368 (GRCm39) |
S470T |
probably damaging |
Het |
Robo2 |
T |
A |
16: 73,692,668 (GRCm39) |
|
probably benign |
Het |
Siglecg |
G |
A |
7: 43,061,628 (GRCm39) |
|
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,949,810 (GRCm39) |
N367S |
probably damaging |
Het |
Tex29 |
C |
T |
8: 11,904,288 (GRCm39) |
|
probably benign |
Het |
Tmem117 |
T |
A |
15: 94,536,020 (GRCm39) |
V18E |
probably damaging |
Het |
Tmtc2 |
C |
T |
10: 105,249,366 (GRCm39) |
M122I |
probably benign |
Het |
Tpr |
T |
A |
1: 150,283,151 (GRCm39) |
N287K |
probably benign |
Het |
Unc93b1 |
A |
T |
19: 3,993,632 (GRCm39) |
D358V |
probably damaging |
Het |
Vrk2 |
A |
T |
11: 26,484,372 (GRCm39) |
|
probably benign |
Het |
Wdr24 |
A |
T |
17: 26,046,960 (GRCm39) |
Q671L |
probably benign |
Het |
Zfp110 |
C |
T |
7: 12,582,405 (GRCm39) |
T351I |
probably benign |
Het |
Zfp963 |
T |
C |
8: 70,196,027 (GRCm39) |
D142G |
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 |
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 |
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'- CGTTTTAGCTGAGGTCTGACAC -3'
(R):5'- TGTGCTGCAGAATAGGCAAG -3'
Sequencing Primer
(F):5'- CAGCTTACCTAGTTTTTGCCAGTGG -3'
(R):5'- AAGGGCGGGCTGGTCAG -3'
|
Posted On |
2017-02-15 |