Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01404:Pex7'

79761

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pex7

Ensembl Gene

ENSMUSG00000020003

Gene Name

peroxisomal biogenesis factor 7

Synonyms

peroxisome biogenesis factor 7

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.564) question?

Stock #

IGL01404

Quality Score

Status

Chromosome

Chromosomal Location

19735836-19783420 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 19770557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020182] [ENSMUST00000166511]

AlphaFold

P97865

Predicted Effect

probably benign
Transcript: ENSMUST00000020182

SMART Domains

Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003

Domain	Start	End	E-Value	Type
WD40	52	91	9.24e-4	SMART
WD40	95	136	6.14e-9	SMART
WD40	139	179	8.55e-8	SMART
WD40	182	222	3.5e-4	SMART
WD40	226	266	1.3e-7	SMART
WD40	270	310	6.66e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166511

SMART Domains

Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003

Domain	Start	End	E-Value	Type
WD40	52	91	9.24e-4	SMART
WD40	113	153	8.55e-8	SMART
WD40	156	196	3.5e-4	SMART
WD40	200	240	1.3e-7	SMART
WD40	244	284	6.66e-1	SMART

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 cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis. [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
2700049A03Rik	T	A	12: 71,211,152 (GRCm39)		probably null	Het
4921524L21Rik	T	C	18: 6,638,653 (GRCm39)	S351P	possibly damaging	Het
Ablim3	A	G	18: 62,004,754 (GRCm39)	Y12H	probably damaging	Het
Adam2	C	T	14: 66,314,659 (GRCm39)		probably null	Het
Adgre4	A	T	17: 56,104,639 (GRCm39)	N235I	possibly damaging	Het
Aldh3b1	A	C	19: 3,971,205 (GRCm39)	V153G	probably benign	Het
B430306N03Rik	A	G	17: 48,628,101 (GRCm39)	Y177C	probably damaging	Het
Cast	A	T	13: 74,886,406 (GRCm39)	Y249*	probably null	Het
Cfap43	T	C	19: 47,784,105 (GRCm39)	D476G	probably benign	Het
Cpa4	T	C	6: 30,581,701 (GRCm39)	I216T	possibly damaging	Het
Cpeb3	T	C	19: 37,065,948 (GRCm39)	D407G	probably benign	Het
Ctnnal1	T	C	4: 56,829,590 (GRCm39)	D413G	probably damaging	Het
Cyb5a	A	G	18: 84,895,985 (GRCm39)	S84G	probably benign	Het
Dpy19l4	C	A	4: 11,273,006 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,975,972 (GRCm39)	S641T	probably damaging	Het
Espn	T	A	4: 152,222,901 (GRCm39)	T326S	probably benign	Het
Extl1	T	C	4: 134,086,514 (GRCm39)	M514V	probably benign	Het
Fancc	G	A	13: 63,509,452 (GRCm39)	L134F	probably damaging	Het
Fis1	C	T	5: 136,994,828 (GRCm39)	A90V	probably benign	Het
Gdi2	A	G	13: 3,614,611 (GRCm39)	T319A	probably benign	Het
Gjc3	A	G	5: 137,956,120 (GRCm39)	F55S	probably damaging	Het
Gm10762	C	T	2: 128,809,005 (GRCm39)		probably benign	Het
Got1	A	G	19: 43,493,048 (GRCm39)	I291T	possibly damaging	Het
Gpr179	C	A	11: 97,229,012 (GRCm39)	G1048*	probably null	Het
Ino80	T	A	2: 119,287,199 (GRCm39)	D56V	possibly damaging	Het
Kcp	C	A	6: 29,496,638 (GRCm39)	C624F	probably damaging	Het
Kctd1	T	A	18: 15,102,610 (GRCm39)	Q857L	probably damaging	Het
Lins1	G	A	7: 66,363,676 (GRCm39)	V524I	probably damaging	Het
Lrp1	A	T	10: 127,430,901 (GRCm39)	Y383N	probably damaging	Het
Mgam	A	C	6: 40,621,879 (GRCm39)	K84Q	probably benign	Het
Mib2	T	A	4: 155,739,393 (GRCm39)	E862V	probably damaging	Het
Myh1	G	T	11: 67,112,977 (GRCm39)	R1827L	possibly damaging	Het
Myh10	T	C	11: 68,642,866 (GRCm39)		probably null	Het
Myo1e	A	G	9: 70,245,048 (GRCm39)	Y382C	probably benign	Het
Nktr	G	A	9: 121,570,218 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,706 (GRCm39)	I559T	probably damaging	Het
Nod2	A	T	8: 89,390,364 (GRCm39)	M224L	probably benign	Het
Or4d5	A	G	9: 40,012,558 (GRCm39)	I76T	probably benign	Het
Or52n4	A	T	7: 104,293,687 (GRCm39)	Y295*	probably null	Het
Or5k8	G	A	16: 58,644,958 (GRCm39)	T38I	probably damaging	Het
Ptprb	A	T	10: 116,175,341 (GRCm39)	D1112V	probably benign	Het
Rubcn	G	A	16: 32,647,666 (GRCm39)	T636M	probably damaging	Het
Scn5a	A	C	9: 119,315,536 (GRCm39)	L1724R	probably damaging	Het
Sec14l2	T	C	11: 4,066,710 (GRCm39)	D34G	possibly damaging	Het
Serpina3k	A	G	12: 104,306,882 (GRCm39)	D38G	probably benign	Het
Sh3bgr	A	C	16: 96,007,690 (GRCm39)	K18N	probably damaging	Het
Sh3bp5l	A	T	11: 58,236,886 (GRCm39)	H281L	probably benign	Het
Slc28a2	T	G	2: 122,282,538 (GRCm39)	I287M	probably damaging	Het
Slc2a1	T	A	4: 118,989,435 (GRCm39)	M45K	possibly damaging	Het
Syt11	A	G	3: 88,669,523 (GRCm39)	I123T	probably benign	Het
Tfg	C	A	16: 56,514,856 (GRCm39)		probably benign	Het
Tmem177	T	C	1: 119,837,791 (GRCm39)	D296G	probably damaging	Het
Trabd2b	A	G	4: 114,457,153 (GRCm39)	I357V	probably benign	Het
Trp63	C	A	16: 25,639,135 (GRCm39)		probably benign	Het
Ugt1a8	T	C	1: 88,015,617 (GRCm39)	L10P	probably benign	Het
Vmn2r103	A	G	17: 20,032,696 (GRCm39)	I823M	probably damaging	Het
Vmn2r45	T	C	7: 8,484,467 (GRCm39)	N446S	probably damaging	Het
Vps13c	A	T	9: 67,820,486 (GRCm39)		probably null	Het
Vwa3b	C	T	1: 37,193,117 (GRCm39)	T11I	probably benign	Het
Vwf	A	C	6: 125,654,933 (GRCm39)	Q2543P	probably damaging	Het
Yap1	G	A	9: 7,934,742 (GRCm39)		probably benign	Het
Zfp282	A	C	6: 47,874,770 (GRCm39)	D325A	probably damaging	Het
Zfyve9	T	G	4: 108,539,348 (GRCm39)	Y975S	probably damaging	Het

Other mutations in Pex7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02833:Pex7	APN	10	19,770,500 (GRCm39)	missense	probably damaging	1.00
IGL02836:Pex7	APN	10	19,769,990 (GRCm39)	splice site	probably benign
IGL03164:Pex7	APN	10	19,770,461 (GRCm39)	intron	probably benign
plummage	UTSW	10	19,770,061 (GRCm39)	missense	probably damaging	1.00
PIT4494001:Pex7	UTSW	10	19,770,469 (GRCm39)	critical splice donor site	probably null
R0230:Pex7	UTSW	10	19,780,331 (GRCm39)	missense	possibly damaging	0.50
R1136:Pex7	UTSW	10	19,764,434 (GRCm39)	missense	probably benign	0.31
R2049:Pex7	UTSW	10	19,770,061 (GRCm39)	missense	probably damaging	1.00
R4977:Pex7	UTSW	10	19,745,078 (GRCm39)	missense	probably benign	0.05
R5632:Pex7	UTSW	10	19,764,483 (GRCm39)	missense	probably damaging	1.00
R6901:Pex7	UTSW	10	19,736,740 (GRCm39)	missense	probably benign	0.03
R7561:Pex7	UTSW	10	19,770,012 (GRCm39)	nonsense	probably null
R8429:Pex7	UTSW	10	19,770,074 (GRCm39)	missense	probably damaging	0.96
R8775:Pex7	UTSW	10	19,760,522 (GRCm39)	critical splice donor site	probably null
R8775-TAIL:Pex7	UTSW	10	19,760,522 (GRCm39)	critical splice donor site	probably null
R9498:Pex7	UTSW	10	19,762,859 (GRCm39)	nonsense	probably null

Posted On

2013-11-05