Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Pex1'

178419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pex1

Ensembl Gene

ENSMUSG00000005907

Gene Name

peroxisomal biogenesis factor 1

Synonyms

peroxisome biogenesis factor 1, ZWS1

Accession Numbers

Genbank: NM_027777

Is this an essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

3596066-3637232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3606066 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 298 (T298A)

Ref Sequence

ENSEMBL: ENSMUSP00000113304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000142516] [ENSMUST00000195894]

AlphaFold

Q5BL07

Predicted Effect

probably benign
Transcript: ENSMUST00000006061
AA Change: T298A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: T298A

Domain	Start	End	E-Value	Type
Pfam:PEX-2N	14	99	2.4e-53	PFAM
Pfam:PEX-1N	103	179	8.6e-27	PFAM
low complexity region	508	527	N/A	INTRINSIC
AAA	552	702	1.39e-10	SMART
low complexity region	754	765	N/A	INTRINSIC
AAA	834	970	4.07e-17	SMART
low complexity region	1024	1044	N/A	INTRINSIC
low complexity region	1051	1061	N/A	INTRINSIC
low complexity region	1065	1078	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121291
AA Change: T298A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: T298A

Domain	Start	End	E-Value	Type
Pfam:PEX-2N	17	98	8.7e-38	PFAM
Pfam:PEX-1N	104	179	1.4e-27	PFAM
low complexity region	548	567	N/A	INTRINSIC
AAA	592	742	1.39e-10	SMART
low complexity region	794	805	N/A	INTRINSIC
AAA	874	1010	4.07e-17	SMART
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1091	1101	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123268

Predicted Effect

probably benign
Transcript: ENSMUST00000126545

SMART Domains

Protein: ENSMUSP00000121813
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
low complexity region	88	107	N/A	INTRINSIC
Pfam:AAA	136	212	2.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142516

SMART Domains

Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
PDB:1WLF\|A	1	21	5e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143959

Predicted Effect

probably benign
Transcript: ENSMUST00000195894

SMART Domains

Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907

Domain	Start	End	E-Value	Type
Pfam:PEX-2N	14	99	2.5e-51	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 a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-in allele display premature death, postnatal growth retardation, fatty livers, a bile acid defect associated with intestinal lipid malabsorption and cholestasis, and a retinopathy associated with retinal cone cell degenerationand abnormal cone and rod electrophysiology. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Esf1	A	T	2: 140,120,679	M824K	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	Het

Other mutations in Pex1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Pex1	APN	5	3606027	missense	probably benign	0.00
IGL01315:Pex1	APN	5	3609975	missense	probably damaging	1.00
IGL01671:Pex1	APN	5	3624088	missense	probably benign	0.00
IGL01933:Pex1	APN	5	3633789	missense	probably damaging	1.00
IGL01960:Pex1	APN	5	3627588	unclassified	probably benign
IGL02347:Pex1	APN	5	3603350	missense	probably damaging	0.98
IGL02374:Pex1	APN	5	3635481	missense	probably benign	0.01
IGL02392:Pex1	APN	5	3605952	nonsense	probably null
IGL02597:Pex1	APN	5	3635865	missense	possibly damaging	0.50
IGL02703:Pex1	APN	5	3615120	missense	probably benign	0.24
IGL02815:Pex1	APN	5	3636797	missense	probably damaging	0.97
IGL02862:Pex1	APN	5	3605424	intron	probably benign
IGL03005:Pex1	APN	5	3630292	missense	probably null	0.96
E0370:Pex1	UTSW	5	3631614	splice site	probably null
F5493:Pex1	UTSW	5	3635912	critical splice donor site	probably null
R0014:Pex1	UTSW	5	3626141	unclassified	probably benign
R0014:Pex1	UTSW	5	3626141	unclassified	probably benign
R0401:Pex1	UTSW	5	3633759	missense	probably damaging	1.00
R0480:Pex1	UTSW	5	3606444	splice site	probably null
R0555:Pex1	UTSW	5	3606130	missense	possibly damaging	0.89
R0976:Pex1	UTSW	5	3633943	missense	probably benign	0.00
R1200:Pex1	UTSW	5	3606411	critical splice donor site	probably null
R1672:Pex1	UTSW	5	3626085	missense	probably damaging	1.00
R1753:Pex1	UTSW	5	3630044	missense	probably damaging	1.00
R1880:Pex1	UTSW	5	3605770	missense	probably benign
R1953:Pex1	UTSW	5	3630038	missense	probably damaging	1.00
R2054:Pex1	UTSW	5	3603341	missense	possibly damaging	0.78
R2081:Pex1	UTSW	5	3624132	critical splice donor site	probably null
R2237:Pex1	UTSW	5	3618915	critical splice donor site	probably null
R3946:Pex1	UTSW	5	3626084	missense	probably damaging	1.00
R4528:Pex1	UTSW	5	3631712	missense	probably damaging	1.00
R4579:Pex1	UTSW	5	3618880	missense	probably benign	0.03
R4585:Pex1	UTSW	5	3633885	missense	probably damaging	1.00
R4586:Pex1	UTSW	5	3633885	missense	probably damaging	1.00
R4656:Pex1	UTSW	5	3604880	critical splice donor site	probably null
R4789:Pex1	UTSW	5	3630270	missense	probably damaging	0.98
R4850:Pex1	UTSW	5	3624426	missense	probably benign
R4963:Pex1	UTSW	5	3609924	missense	probably benign	0.01
R5005:Pex1	UTSW	5	3622310	missense	probably damaging	1.00
R5015:Pex1	UTSW	5	3620597	missense	probably damaging	1.00
R5019:Pex1	UTSW	5	3622331	missense	probably damaging	1.00
R5937:Pex1	UTSW	5	3624487	missense	possibly damaging	0.94
R5942:Pex1	UTSW	5	3610277	missense	probably benign	0.04
R5995:Pex1	UTSW	5	3607704	missense	possibly damaging	0.53
R6434:Pex1	UTSW	5	3630196	nonsense	probably null
R6552:Pex1	UTSW	5	3623953	missense	probably damaging	1.00
R6777:Pex1	UTSW	5	3622358	missense	probably benign	0.01
R6877:Pex1	UTSW	5	3635505	missense	probably benign	0.19
R6948:Pex1	UTSW	5	3605994	missense	probably benign	0.00
R7317:Pex1	UTSW	5	3618875	missense	probably damaging	1.00
R7408:Pex1	UTSW	5	3630222	missense	probably damaging	1.00
R7658:Pex1	UTSW	5	3596244	unclassified	probably benign
R8062:Pex1	UTSW	5	3605656	missense	probably benign
R8354:Pex1	UTSW	5	3631707	missense	probably damaging	1.00
R8366:Pex1	UTSW	5	3626007	missense	probably benign	0.00
R8482:Pex1	UTSW	5	3612923	missense	probably benign	0.00
R8673:Pex1	UTSW	5	3635886	missense	possibly damaging	0.65
R8812:Pex1	UTSW	5	3631614	missense	probably benign	0.00
R9004:Pex1	UTSW	5	3612914	missense	probably benign	0.01
R9031:Pex1	UTSW	5	3636844	missense	probably damaging	1.00
R9080:Pex1	UTSW	5	3605476	missense	probably damaging	1.00
X0019:Pex1	UTSW	5	3605653	missense	probably damaging	1.00
X0027:Pex1	UTSW	5	3630270	missense	probably damaging	0.98
Z1088:Pex1	UTSW	5	3606075	missense	probably benign	0.06

Posted On

2014-05-07