Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01818:Ppox'

154448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppox

Ensembl Gene

ENSMUSG00000062729

Gene Name

protoporphyrinogen oxidase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

IGL01818

Quality Score

Status

Chromosome

Chromosomal Location

171104564-171108955 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171108318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 6 (I6K)

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: I6K

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729
AA Change: I6K

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: ENSMUST00000132890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142656

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: ENSMUST00000192956
AA Change: I6K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729
AA Change: I6K

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: 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

Coding Region Coverage

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrp	T	C	8: 106,294,018 (GRCm39)	D35G	probably benign	Het
C3ar1	T	C	6: 122,827,378 (GRCm39)	N280D	probably benign	Het
Ccpg1	A	G	9: 72,904,735 (GRCm39)	T15A	probably damaging	Het
Chmp7	A	G	14: 69,956,616 (GRCm39)	V361A	probably damaging	Het
Dnmbp	T	A	19: 43,889,604 (GRCm39)	K721M	probably damaging	Het
Elmod3	T	C	6: 72,563,490 (GRCm39)	E46G	possibly damaging	Het
Gm4922	T	C	10: 18,660,701 (GRCm39)	D7G	unknown	Het
H2-T24	C	A	17: 36,328,128 (GRCm39)		probably benign	Het
Hal	A	T	10: 93,326,846 (GRCm39)	T161S	probably damaging	Het
Htr1d	A	G	4: 136,170,197 (GRCm39)	E142G	probably benign	Het
Minar1	T	C	9: 89,483,366 (GRCm39)	E677G	probably damaging	Het
Mrps31	T	C	8: 22,901,483 (GRCm39)	M1T	probably null	Het
Nckap1l	T	C	15: 103,386,709 (GRCm39)	L628P	probably damaging	Het
Oosp2	T	C	19: 11,627,053 (GRCm39)	N90S	probably benign	Het
Pitpnm3	A	G	11: 72,003,077 (GRCm39)		probably benign	Het
Skint6	G	T	4: 112,805,766 (GRCm39)	Q690K	probably benign	Het
Stat1	T	C	1: 52,190,437 (GRCm39)	I564T	probably damaging	Het
Tiam1	T	A	16: 89,664,592 (GRCm39)	I539F	probably damaging	Het
Tmem191	A	G	16: 17,095,594 (GRCm39)	R35G	possibly damaging	Het
Trim30d	A	T	7: 104,121,267 (GRCm39)	C343S	probably damaging	Het
Trpm3	T	C	19: 22,891,838 (GRCm39)	L736S	probably damaging	Het
Vmn2r73	T	A	7: 85,519,109 (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
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
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

Posted On

2014-02-04