Incidental Mutation 'R7564:Ppox'
| ID |
585291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppox
|
| Ensembl Gene |
ENSMUSG00000062729 |
| Gene Name |
protoporphyrinogen oxidase |
| Synonyms |
|
| MMRRC Submission |
045656-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R7564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171104564-171108955 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 171107765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 96
(N96S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064272]
[ENSMUST00000065941]
[ENSMUST00000073120]
[ENSMUST00000111305]
[ENSMUST00000111306]
[ENSMUST00000111313]
[ENSMUST00000126699]
[ENSMUST00000149187]
[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
AA Change: N96S
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: N96S
| 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: 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: 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
AA Change: N107S
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: N107S
| 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 |
|
| Meta Mutation Damage Score |
0.2453 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
G |
A |
9: 104,000,288 (GRCm39) |
E681K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,688,501 (GRCm39) |
M411K |
possibly damaging |
Het |
| Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
| Bag4 |
G |
A |
8: 26,267,507 (GRCm39) |
R108* |
probably null |
Het |
| Cpa1 |
C |
T |
6: 30,641,767 (GRCm39) |
T197M |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,218 (GRCm39) |
V50A |
probably benign |
Het |
| Dact1 |
A |
G |
12: 71,365,325 (GRCm39) |
D665G |
probably damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,588,297 (GRCm39) |
V499I |
probably damaging |
Het |
| Depdc5 |
T |
G |
5: 33,058,854 (GRCm39) |
I274M |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,570,817 (GRCm39) |
Q2219L |
probably benign |
Het |
| Ect2 |
A |
T |
3: 27,170,272 (GRCm39) |
|
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,617,159 (GRCm39) |
S289R |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,437,140 (GRCm39) |
L1037P |
unknown |
Het |
| Fsip2 |
G |
A |
2: 82,819,361 (GRCm39) |
M5031I |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,274,151 (GRCm39) |
M1435V |
probably benign |
Het |
| Gm8005 |
G |
T |
14: 42,261,499 (GRCm39) |
Q44K |
|
Het |
| Hdgfl2 |
T |
A |
17: 56,406,860 (GRCm39) |
D591E |
unknown |
Het |
| Hk3 |
C |
A |
13: 55,159,209 (GRCm39) |
C449F |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,531,586 (GRCm39) |
M3228V |
probably benign |
Het |
| Kifap3 |
C |
T |
1: 163,743,337 (GRCm39) |
R773C |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,500,612 (GRCm39) |
V659A |
probably benign |
Het |
| Lhb |
C |
T |
7: 45,071,101 (GRCm39) |
R109C |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,854 (GRCm39) |
I267T |
probably benign |
Het |
| Lypla1 |
T |
A |
1: 4,878,590 (GRCm39) |
|
probably null |
Het |
| Map3k21 |
T |
C |
8: 126,654,447 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
A |
G |
2: 119,844,232 (GRCm39) |
T319A |
probably benign |
Het |
| Mms19 |
T |
C |
19: 41,935,455 (GRCm39) |
T854A |
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,911,495 (GRCm39) |
T173A |
probably benign |
Het |
| Mtcl1 |
C |
T |
17: 66,678,322 (GRCm39) |
R668H |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,767,582 (GRCm39) |
E297K |
possibly damaging |
Het |
| Nrg2 |
A |
T |
18: 36,157,449 (GRCm39) |
L412Q |
probably damaging |
Het |
| Nrtn |
T |
C |
17: 57,058,473 (GRCm39) |
D176G |
probably damaging |
Het |
| Nrxn1 |
G |
T |
17: 90,670,334 (GRCm39) |
Q1134K |
possibly damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or51t4 |
C |
T |
7: 102,598,473 (GRCm39) |
P267L |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,139,781 (GRCm39) |
V360A |
unknown |
Het |
| Pigr |
T |
A |
1: 130,769,403 (GRCm39) |
N71K |
possibly damaging |
Het |
| Pramel29 |
C |
A |
4: 143,939,525 (GRCm39) |
C4F |
probably damaging |
Het |
| Qrfprl |
G |
T |
6: 65,429,891 (GRCm39) |
E196* |
probably null |
Het |
| Rasa1 |
T |
C |
13: 85,376,827 (GRCm39) |
T603A |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,603,770 (GRCm39) |
L97P |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,887,415 (GRCm39) |
I147V |
probably benign |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,760 (GRCm39) |
P630S |
probably damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,937 (GRCm39) |
T581A |
probably benign |
Het |
| Slc36a2 |
A |
G |
11: 55,053,498 (GRCm39) |
I380T |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,638,108 (GRCm39) |
V178D |
probably damaging |
Het |
| Smad7 |
C |
A |
18: 75,526,906 (GRCm39) |
L251I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,426,434 (GRCm39) |
S151N |
probably benign |
Het |
| St3gal4 |
C |
T |
9: 34,963,549 (GRCm39) |
R253Q |
probably benign |
Het |
| Trappc14 |
C |
A |
5: 138,261,104 (GRCm39) |
|
probably null |
Het |
| Ttbk1 |
T |
C |
17: 46,787,857 (GRCm39) |
I242V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,798,864 (GRCm39) |
A470V |
unknown |
Het |
| Unc13b |
T |
C |
4: 43,091,258 (GRCm39) |
V28A |
probably damaging |
Het |
| Vmn1r149 |
A |
G |
7: 22,137,530 (GRCm39) |
V42A |
possibly damaging |
Het |
| Zbtb21 |
A |
T |
16: 97,752,740 (GRCm39) |
C514* |
probably null |
Het |
| Zfp236 |
A |
T |
18: 82,662,366 (GRCm39) |
C570* |
probably null |
Het |
| Zfp277 |
T |
A |
12: 40,379,594 (GRCm39) |
R313S |
probably damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,967 (GRCm39) |
C186S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
G |
7: 11,248,954 (GRCm39) |
|
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 |
|
R5892:Ppox
|
UTSW |
1 |
171,105,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCATGGTTGAAAAGAAAACTCCC -3'
(R):5'- ACTTGGACCTCGAGGGATTAG -3'
Sequencing Primer
(F):5'- GGTTGAAAAGAAAACTCCCAGATTC -3'
(R):5'- ATTAGGCCGGCTGGAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation