Mutagenetix > Incidental Mutation

Incidental Mutation 'R4574:Pex3'

342345

Institutional Source

Beutler Lab

Gene Symbol

Pex3

Ensembl Gene

ENSMUSG00000019809

Gene Name

peroxisomal biogenesis factor 3

Synonyms

2900010N04Rik, 2810027F19Rik, 1700014F15Rik

MMRRC Submission

041797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4574 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13399586-13428886 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 13411315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 188 (Q188*)

Ref Sequence

ENSEMBL: ENSMUSP00000128512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019945] [ENSMUST00000105539] [ENSMUST00000105541] [ENSMUST00000170376]

AlphaFold

Q9QXY9

Predicted Effect

probably null
Transcript: ENSMUST00000019945
AA Change: Q188*

SMART Domains

Protein: ENSMUSP00000019945
Gene: ENSMUSG00000019809
AA Change: Q188*

Domain	Start	End	E-Value	Type
Pfam:Peroxin-3	4	99	9.9e-23	PFAM
Pfam:Peroxin-3	94	363	5.7e-53	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105539
AA Change: Q122*

SMART Domains

Protein: ENSMUSP00000101178
Gene: ENSMUSG00000019809
AA Change: Q122*

Domain	Start	End	E-Value	Type
Pfam:Peroxin-3	28	298	6.1e-83	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105541
AA Change: Q122*

SMART Domains

Protein: ENSMUSP00000101180
Gene: ENSMUSG00000019809
AA Change: Q122*

Domain	Start	End	E-Value	Type
Pfam:Peroxin-3	28	286	2e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145337

Predicted Effect

probably null
Transcript: ENSMUST00000170376
AA Change: Q188*

SMART Domains

Protein: ENSMUSP00000128512
Gene: ENSMUSG00000019809
AA Change: Q188*

Domain	Start	End	E-Value	Type
Pfam:Peroxin-3	2	97	2.4e-35	PFAM
Pfam:Peroxin-3	94	352	7.3e-75	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 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 are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants exhibit abnormal sebaceous gland, hair follicle bulge, and cornea morphology. An increase in B and T cell numbers and mean platelet volume, and vertebral transformation are also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	C	5: 121,638,856 (GRCm39)	S730A	probably benign	Het
Adamts9	G	A	6: 92,856,940 (GRCm39)	R319*	probably null	Het
Anapc1	G	T	2: 128,469,115 (GRCm39)	S1575R	probably damaging	Het
Appbp2	A	T	11: 85,100,764 (GRCm39)		probably null	Het
Bcas2	C	T	3: 103,081,666 (GRCm39)	P90S	probably benign	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cd101	T	C	3: 100,920,469 (GRCm39)	N477D	probably benign	Het
Cdk12	A	G	11: 98,111,814 (GRCm39)		probably benign	Het
Clcn4	T	C	7: 7,290,804 (GRCm39)	E634G	probably benign	Het
Cltb	C	T	13: 54,746,574 (GRCm39)	R64H	probably damaging	Het
Cpt1b	G	T	15: 89,308,247 (GRCm39)		probably null	Het
Ctf2	T	G	7: 127,318,556 (GRCm39)	T148P	possibly damaging	Het
Ddx23	G	A	15: 98,545,505 (GRCm39)	T601I	probably damaging	Het
Dlx6	G	T	6: 6,865,305 (GRCm39)		probably benign	Het
Dmrtb1	A	T	4: 107,534,265 (GRCm39)	N183K	possibly damaging	Het
Dnah11	A	G	12: 117,975,990 (GRCm39)		probably null	Het
Dnah5	C	T	15: 28,367,909 (GRCm39)	P2765S	probably benign	Het
Dnah6	T	A	6: 73,063,164 (GRCm39)	N2698I	probably damaging	Het
Fpr-rs6	T	A	17: 20,403,359 (GRCm39)	M1L	probably damaging	Het
Gm4841	T	C	18: 60,402,998 (GRCm39)	N365S	probably benign	Het
Gsdmc2	C	T	15: 63,699,872 (GRCm39)		probably null	Het
Irx5	G	A	8: 93,084,890 (GRCm39)	V27I	probably damaging	Het
Kmt2e	T	A	5: 23,697,405 (GRCm39)	V101D	possibly damaging	Het
Maip1	A	C	1: 57,452,404 (GRCm39)	K219Q	possibly damaging	Het
Mpp7	G	T	18: 7,353,228 (GRCm39)	R493S	probably benign	Het
Ms4a14	T	C	19: 11,281,335 (GRCm39)	T408A	probably benign	Het
Mthfr	A	G	4: 148,127,998 (GRCm39)	N117S	possibly damaging	Het
Mtres1	T	A	10: 43,409,006 (GRCm39)	S46C	probably damaging	Het
Myo5c	A	G	9: 75,176,893 (GRCm39)	I613V	probably benign	Het
Neurl1b	A	G	17: 26,650,860 (GRCm39)	Q44R	probably benign	Het
Nup54	T	A	5: 92,573,641 (GRCm39)	N187I	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or5ak22	C	A	2: 85,230,370 (GRCm39)	C169F	probably damaging	Het
Pate2	C	A	9: 35,596,969 (GRCm39)		probably benign	Het
Pccb	T	C	9: 100,867,252 (GRCm39)	S445G	probably damaging	Het
Pikfyve	T	A	1: 65,231,351 (GRCm39)	W74R	probably damaging	Het
Plcl2	T	C	17: 50,914,874 (GRCm39)	S628P	probably damaging	Het
Pnldc1	T	C	17: 13,111,669 (GRCm39)	H346R	probably benign	Het
Pom121l2	T	A	13: 22,168,572 (GRCm39)	C948S	probably benign	Het
Pspc1	A	T	14: 56,999,404 (GRCm39)	M284K	possibly damaging	Het
Ralgapa2	A	G	2: 146,277,919 (GRCm39)	L414S	probably damaging	Het
Rgs13	T	A	1: 144,016,583 (GRCm39)	K53N	probably damaging	Het
Rorc	T	C	3: 94,296,291 (GRCm39)	S163P	probably benign	Het
Rpl3l	A	C	17: 24,952,984 (GRCm39)	T315P	possibly damaging	Het
Rsph3b	A	G	17: 7,172,438 (GRCm39)	V487A	probably benign	Het
Rusc2	A	G	4: 43,416,080 (GRCm39)	E462G	probably damaging	Het
Sez6l	T	C	5: 112,576,344 (GRCm39)	T838A	probably damaging	Het
Slc22a14	A	G	9: 119,008,561 (GRCm39)	Y236H	probably damaging	Het
Sspo	G	A	6: 48,442,457 (GRCm39)	R1984H	probably damaging	Het
Steap3	G	T	1: 120,169,186 (GRCm39)	D370E	probably benign	Het
Sumf1	A	G	6: 108,085,393 (GRCm39)		probably benign	Het
Telo2	T	C	17: 25,320,647 (GRCm39)	E754G	probably damaging	Het
Tjp1	A	G	7: 64,972,353 (GRCm39)	F604L	probably damaging	Het
Trpm7	A	T	2: 126,639,131 (GRCm39)	D1734E	probably benign	Het
Tsfm	A	C	10: 126,864,242 (GRCm39)	Y158D	probably damaging	Het
Ubtf	T	C	11: 102,197,591 (GRCm39)		probably benign	Het
Upk3a	G	T	15: 84,904,752 (GRCm39)	V167F	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,939 (GRCm39)	S327L	probably benign	Het
Vps13c	T	A	9: 67,858,965 (GRCm39)	I2805N	probably damaging	Het
Zfp592	A	G	7: 80,673,534 (GRCm39)	D166G	possibly damaging	Het

Other mutations in Pex3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Pex3	APN	10	13,428,597 (GRCm39)	splice site	probably null
IGL02367:Pex3	APN	10	13,400,643 (GRCm39)	missense	probably benign	0.39
IGL02538:Pex3	APN	10	13,411,344 (GRCm39)	missense	possibly damaging	0.94
IGL02645:Pex3	APN	10	13,422,173 (GRCm39)	missense	possibly damaging	0.92
IGL03096:Pex3	APN	10	13,410,407 (GRCm39)	splice site	probably benign
R0076:Pex3	UTSW	10	13,411,338 (GRCm39)	missense	probably benign	0.08
R0494:Pex3	UTSW	10	13,403,532 (GRCm39)	missense	probably damaging	1.00
R0945:Pex3	UTSW	10	13,418,420 (GRCm39)	missense	probably benign	0.43
R6407:Pex3	UTSW	10	13,422,112 (GRCm39)	missense	probably damaging	1.00
R7549:Pex3	UTSW	10	13,418,414 (GRCm39)	missense	probably benign
R7751:Pex3	UTSW	10	13,403,550 (GRCm39)	missense	possibly damaging	0.67
R8033:Pex3	UTSW	10	13,407,024 (GRCm39)	nonsense	probably null
R9413:Pex3	UTSW	10	13,410,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCTCTACATATGCCCACTC -3'
(R):5'- TTGCTCCTCCGGATGTACAG -3'

Sequencing Primer
(F):5'- GTCCATTAATTTGATTAAGCTGGCC -3'
(R):5'- CCGGATGTACAGCAGCAGTATTTATC -3'

Posted On

2015-09-24