Mutagenetix > Incidental Mutation

Incidental Mutation 'R7088:Pex19'

549982

Institutional Source

Beutler Lab

Gene Symbol

Pex19

Ensembl Gene

ENSMUSG00000003464

Gene Name

peroxisomal biogenesis factor 19

Synonyms

peroxisome biogenesis factor 19, Pxf

MMRRC Submission

045182-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.761) question?

Stock #

R7088 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

171954322-171964060 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC to GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC at 171956150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075895] [ENSMUST00000111252]

AlphaFold

Q8VCI5

Predicted Effect

probably null
Transcript: ENSMUST00000075895

SMART Domains

Protein: ENSMUSP00000075289
Gene: ENSMUSG00000003464

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC
Pfam:Pex19	74	299	1.5e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111252

SMART Domains

Protein: ENSMUSP00000106883
Gene: ENSMUSG00000003464

Domain	Start	End	E-Value	Type
Pfam:Pex19	9	207	5.7e-58	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). 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. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some 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 of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	G	T	11: 83,331,232 (GRCm39)	E48*	probably null	Het
Acaca	T	C	11: 84,169,783 (GRCm39)		probably null	Het
Albfm1	T	A	5: 90,720,609 (GRCm39)	L260*	probably null	Het
Alkbh3	A	G	2: 93,835,097 (GRCm39)	S83P	possibly damaging	Het
Ammecr1l	T	C	18: 31,904,872 (GRCm39)	S38P	probably benign	Het
Armc10	T	C	5: 21,858,390 (GRCm39)	V145A	probably damaging	Het
BC048671	A	G	6: 90,280,222 (GRCm39)	K46R	probably null	Het
C2cd3	A	G	7: 100,065,388 (GRCm39)	T347A		Het
C8b	G	T	4: 104,650,540 (GRCm39)	E449D	probably benign	Het
Camk4	T	C	18: 33,072,584 (GRCm39)	S46P	probably benign	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Cd177	A	T	7: 24,444,558 (GRCm39)	C674*	probably null	Het
Cdc6	T	A	11: 98,810,065 (GRCm39)	V458D	probably damaging	Het
Cenpo	C	T	12: 4,265,307 (GRCm39)	E238K	probably benign	Het
Ckap2	G	T	8: 22,659,882 (GRCm39)	P533Q	possibly damaging	Het
Cma1	T	A	14: 56,181,273 (GRCm39)	H44L	probably damaging	Het
Cmya5	A	T	13: 93,228,372 (GRCm39)	S2239T	possibly damaging	Het
Cntnap5b	T	A	1: 100,087,802 (GRCm39)	I141N	probably damaging	Het
Col6a4	T	A	9: 105,877,885 (GRCm39)	T2031S	possibly damaging	Het
Cplane1	C	T	15: 8,248,431 (GRCm39)	T1660M	probably benign	Het
Cxcr5	T	A	9: 44,424,683 (GRCm39)	T325S	possibly damaging	Het
Dhx32	A	T	7: 133,344,417 (GRCm39)	L204Q	probably damaging	Het
Dse	A	G	10: 34,029,885 (GRCm39)	Y402H	probably damaging	Het
Ecpas	A	T	4: 58,849,766 (GRCm39)	L458I	possibly damaging	Het
Exoc6	G	T	19: 37,565,458 (GRCm39)	C178F	probably damaging	Het
Fam149a	A	G	8: 45,803,582 (GRCm39)	V384A	probably benign	Het
Fcrl5	T	C	3: 87,365,141 (GRCm39)	*597Q	probably null	Het
Fer1l6	A	G	15: 58,435,899 (GRCm39)	K431E	possibly damaging	Het
Fmo3	T	A	1: 162,796,434 (GRCm39)	H46L	probably benign	Het
Gcm2	T	C	13: 41,256,840 (GRCm39)	D303G	probably damaging	Het
Gk2	T	C	5: 97,603,534 (GRCm39)	M435V	probably damaging	Het
Gli1	C	A	10: 127,171,868 (GRCm39)	M295I	probably damaging	Het
Gm11444	G	T	11: 85,737,862 (GRCm39)	H109Q		Het
Gtpbp1	T	A	15: 79,603,483 (GRCm39)	D182E		Het
Hnf4g	A	T	3: 3,713,185 (GRCm39)		probably null	Het
Hsf2	G	A	10: 57,388,188 (GRCm39)	R483H	probably damaging	Het
Kcnq4	C	T	4: 120,561,596 (GRCm39)	R491H	probably damaging	Het
Lama3	T	C	18: 12,715,602 (GRCm39)	V1686A	possibly damaging	Het
Larp6	A	G	9: 60,631,638 (GRCm39)	K137E	probably damaging	Het
Mboat1	T	G	13: 30,379,772 (GRCm39)		probably null	Het
Mdh1	T	C	11: 21,508,484 (GRCm39)	Y286C	probably damaging	Het
Mga	G	T	2: 119,792,417 (GRCm39)	K2607N	probably damaging	Het
Morf4l1	C	A	9: 89,979,433 (GRCm39)	V183F	possibly damaging	Het
Mroh4	G	A	15: 74,497,993 (GRCm39)	R196W	probably benign	Het
Muc16	C	A	9: 18,503,976 (GRCm39)	M6438I	probably damaging	Het
Myom3	A	G	4: 135,530,589 (GRCm39)	Y1167C	probably damaging	Het
Neurl3	T	C	1: 36,308,302 (GRCm39)	E170G	possibly damaging	Het
Nsd3	T	C	8: 26,156,050 (GRCm39)	I539T	probably benign	Het
Nup155	T	C	15: 8,186,177 (GRCm39)	F1313S	probably benign	Het
Nxn	A	T	11: 76,153,974 (GRCm39)	V287E	possibly damaging	Het
Or4a80	G	A	2: 89,582,443 (GRCm39)	T243I	probably benign	Het
Or7a38	A	C	10: 78,753,593 (GRCm39)	L306F	probably benign	Het
Or8c13	C	A	9: 38,091,748 (GRCm39)	V124F	probably damaging	Het
Pax6	A	G	2: 105,526,753 (GRCm39)	N220D	probably benign	Het
Pcdha11	G	A	18: 37,138,470 (GRCm39)	R33H	probably benign	Het
Pdzd8	A	G	19: 59,333,389 (GRCm39)	F211L	probably damaging	Het
Pear1	C	A	3: 87,661,945 (GRCm39)	V477F	possibly damaging	Het
Pidd1	A	T	7: 141,020,400 (GRCm39)	V539E	probably damaging	Het
Ptprg	A	T	14: 12,207,365 (GRCm38)	I878F	probably damaging	Het
Rabepk	T	C	2: 34,675,711 (GRCm39)	T140A	probably benign	Het
Ranbp2	G	T	10: 58,299,728 (GRCm39)	R454L	probably damaging	Het
Rnf123	C	T	9: 107,935,735 (GRCm39)	R943Q	probably null	Het
Sash1	G	A	10: 8,605,481 (GRCm39)	R970*	probably null	Het
Serpinb2	C	A	1: 107,452,422 (GRCm39)	F333L	probably damaging	Het
Shank3	T	A	15: 89,387,728 (GRCm39)		probably null	Het
Slc9a2	A	C	1: 40,765,539 (GRCm39)	I310L	probably damaging	Het
Strip2	T	A	6: 29,920,532 (GRCm39)		probably null	Het
Thoc3	T	C	13: 54,611,565 (GRCm39)	T241A	probably damaging	Het
Tmem139	T	A	6: 42,240,199 (GRCm39)	V2E	probably damaging	Het
Usp24	G	T	4: 106,244,743 (GRCm39)	V1233F	probably damaging	Het
Vnn1	A	G	10: 23,776,645 (GRCm39)	Q332R	probably benign	Het
Wac	T	A	18: 7,921,455 (GRCm39)	H530Q	probably damaging	Het
Wdr35	T	A	12: 9,028,659 (GRCm39)	N92K	probably benign	Het
Zbtb18	T	G	1: 177,274,820 (GRCm39)	L60R	probably damaging	Het
Zfp184	T	A	13: 22,144,162 (GRCm39)	C623S	probably damaging	Het
Zfp292	A	G	4: 34,806,796 (GRCm39)	Y2088H	probably damaging	Het
Zfp975	G	T	7: 42,312,096 (GRCm39)	S172R	probably benign	Het
Zswim2	G	A	2: 83,746,071 (GRCm39)	Q456*	probably null	Het

Other mutations in Pex19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02123:Pex19	APN	1	171,961,853 (GRCm39)	missense	probably damaging	1.00
IGL02656:Pex19	APN	1	171,958,252 (GRCm39)	missense	probably benign	0.11
R5457:Pex19	UTSW	1	171,958,245 (GRCm39)	missense	probably damaging	1.00
R5590:Pex19	UTSW	1	171,960,779 (GRCm39)	missense	probably benign	0.00
R5809:Pex19	UTSW	1	171,958,306 (GRCm39)	missense	probably damaging	0.98
R6148:Pex19	UTSW	1	171,961,606 (GRCm39)	missense	probably damaging	0.96
R7705:Pex19	UTSW	1	171,956,150 (GRCm39)	frame shift	probably null
R7854:Pex19	UTSW	1	171,954,417 (GRCm39)	critical splice donor site	probably null
R9017:Pex19	UTSW	1	171,956,150 (GRCm39)	frame shift	probably null
R9018:Pex19	UTSW	1	171,956,150 (GRCm39)	frame shift	probably null
R9152:Pex19	UTSW	1	171,956,150 (GRCm39)	frame shift	probably null
R9243:Pex19	UTSW	1	171,956,150 (GRCm39)	frame shift	probably null
R9781:Pex19	UTSW	1	171,956,855 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-05-15