Mutagenetix > Incidental Mutations

Incidental Mutation 'R0555:Pex1'

45453

Institutional Source

Beutler Lab

Gene Symbol

Pex1

Ensembl Gene

ENSMUSG00000005907

Gene Name

peroxisomal biogenesis factor 1

Synonyms

peroxisome biogenesis factor 1, ZWS1

MMRRC Submission

038747-MU

Accession Numbers

Genbank: NM_027777

Is this an essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R0555 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3596066-3637232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3606130 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 319 (E319G)

Ref Sequence

ENSEMBL: ENSMUSP00000113304 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006061
AA Change: E319G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: E319G

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

possibly damaging
Transcript: ENSMUST00000121291
AA Change: E319G

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: E319G

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

Meta Mutation Damage Score

0.1822

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 93.8%

Validation Efficiency

100% (98/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	T	A	9: 70,754,234	I363N	probably damaging	Het
Ahcyl2	T	C	6: 29,890,671		probably benign	Het
Asap1	A	G	15: 64,094,364	L941P	probably damaging	Het
Aurka	G	A	2: 172,367,147	R23C	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Casp8ap2	T	A	4: 32,640,381	H478Q	probably damaging	Het
Clcn4	C	T	7: 7,290,504	A418T	possibly damaging	Het
Cpxm2	A	T	7: 132,044,043	Y715*	probably null	Het
Csmd1	T	C	8: 16,185,273	M1179V	probably benign	Het
Ddx21	A	T	10: 62,587,528	F632I	probably damaging	Het
Dnaic1	C	A	4: 41,625,335	T433K	possibly damaging	Het
Dpyd	G	A	3: 119,431,542	G988D	probably damaging	Het
Dync1i2	AAAAGAAGAGGAAAGAAGAGGAAAG	AAAAGAAGAGGAAAG	2: 71,214,518		probably null	Het
Dync1li2	A	T	8: 104,420,665	S466T	probably benign	Het
Ears2	T	C	7: 122,048,444	T206A	probably benign	Het
Elmod1	A	T	9: 53,931,592		probably benign	Het
Eps8l3	C	A	3: 107,892,345	D590E	probably benign	Het
Etfdh	A	T	3: 79,605,805	H370Q	probably benign	Het
Fam83g	C	A	11: 61,707,663	A792E	probably benign	Het
Ffar3	G	T	7: 30,855,537	Y119*	probably null	Het
Fosb	G	T	7: 19,307,213	S118R	possibly damaging	Het
Foxn4	G	A	5: 114,263,114	L3F	probably damaging	Het
Foxo4	A	G	X: 101,255,178	K65E	probably damaging	Het
Frem2	A	G	3: 53,516,860	L3052P	probably damaging	Het
Fubp3	G	A	2: 31,608,137	R101H	probably damaging	Het
Gba2	C	A	4: 43,569,927	G429C	probably damaging	Het
Gimap1	T	C	6: 48,741,429		probably benign	Het
Gm17657	A	T	17: 29,519,571	F74I	probably benign	Het
Gnas	A	G	2: 174,298,511	T158A	possibly damaging	Het
Gpc5	T	C	14: 115,552,328	V538A	probably damaging	Het
Greb1l	T	C	18: 10,458,781		probably benign	Het
H2-M10.5	G	A	17: 36,774,728	G260R	probably damaging	Het
Hbs1l	A	C	10: 21,349,323	Q412H	probably benign	Het
Hecw1	G	T	13: 14,236,941	T1058N	probably damaging	Het
Heph	A	T	X: 96,558,084	T1027S	probably damaging	Het
Hoga1	A	C	19: 42,046,075	E53A	possibly damaging	Het
Insrr	T	G	3: 87,814,437		probably benign	Het
Ipo11	A	T	13: 106,892,461	V328D	probably damaging	Het
Jakmip1	T	C	5: 37,118,873	V509A	probably damaging	Het
Jmjd1c	T	C	10: 67,225,789	V1307A	probably benign	Het
Kmt2a	T	A	9: 44,847,571	S1027C	probably damaging	Het
Kprp	G	C	3: 92,824,357	P462R	unknown	Het
Lman1l	T	C	9: 57,614,101	T193A	probably benign	Het
Lrit3	A	T	3: 129,791,296	V271D	probably damaging	Het
Map4	T	A	9: 109,979,103		probably benign	Het
Mark4	A	C	7: 19,448,673		probably benign	Het
Mfsd14b	A	G	13: 65,078,445	V142A	probably benign	Het
Mis18bp1	A	T	12: 65,161,453	I162N	possibly damaging	Het
Mrpl43	A	T	19: 45,005,952		probably benign	Het
Mrpl47	A	G	3: 32,736,693	F16S	probably benign	Het
Myh2	G	T	11: 67,178,967	G380C	probably damaging	Het
Myo15	T	C	11: 60,521,638	Y3284H	probably damaging	Het
Nectin2	A	G	7: 19,733,223		probably benign	Het
Neu3	A	G	7: 99,814,183	V111A	probably damaging	Het
Nol4l	T	C	2: 153,417,684		probably null	Het
Nphp3	C	A	9: 104,023,434	H510Q	probably damaging	Het
Nprl3	T	A	11: 32,233,118		probably null	Het
Olfr292	A	G	7: 86,695,308	N284S	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr598	T	C	7: 103,328,963	V159A	probably benign	Het
Olfr791	T	C	10: 129,526,896	I223T	possibly damaging	Het
Phtf1	C	A	3: 104,004,469	T709K	probably damaging	Het
Plek2	A	T	12: 78,892,172	L271Q	probably damaging	Het
Plekhg5	T	A	4: 152,107,469	C421*	probably null	Het
Polk	A	C	13: 96,484,179	C525W	probably damaging	Het
Ppfibp2	T	C	7: 107,729,174	S471P	probably damaging	Het
Prickle2	A	T	6: 92,458,565	F74L	probably benign	Het
Prl7d1	A	T	13: 27,712,055	V113D	probably benign	Het
Prr14	C	T	7: 127,472,095		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ret	A	G	6: 118,178,610	V375A	probably damaging	Het
Rora	T	C	9: 69,361,746	F41S	probably damaging	Het
Sall1	T	C	8: 89,031,758	T573A	probably benign	Het
Shb	A	G	4: 45,458,321	V281A	possibly damaging	Het
Slc25a26	A	T	6: 94,592,410		probably null	Het
Sltm	T	C	9: 70,586,081	F769L	probably damaging	Het
Snx9	T	A	17: 5,918,413	M328K	probably damaging	Het
Stk25	G	T	1: 93,624,591	Q356K	probably benign	Het
Svep1	T	A	4: 58,128,858	Y613F	possibly damaging	Het
Syne4	G	A	7: 30,316,744	A195T	probably damaging	Het
Tmem8	T	C	17: 26,117,114	L130S	probably benign	Het
Trcg1	C	T	9: 57,242,333	T396M	probably damaging	Het
Trim30b	A	G	7: 104,357,298	V117A	possibly damaging	Het
Trpc4	T	C	3: 54,302,090		probably benign	Het
Ttll4	A	G	1: 74,688,280	H827R	probably damaging	Het
Urgcp	T	C	11: 5,717,477	E287G	probably damaging	Het
Usp2	G	T	9: 44,092,784	L319F	probably damaging	Het
Vmn1r167	A	T	7: 23,505,087	V168D	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r61	A	T	7: 42,266,018	I130F	probably benign	Het
Vmn2r63	A	T	7: 42,928,528	Y195*	probably null	Het
Vmn2r81	T	C	10: 79,293,449	S725P	probably damaging	Het
Wnt10b	A	G	15: 98,772,937		probably benign	Het
Zcchc6	A	G	13: 59,800,317	V328A	probably benign	Het
Zfp292	T	C	4: 34,807,194	E1950G	probably damaging	Het
Zfyve16	A	G	13: 92,516,520		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
IGL01863:Pex1	APN	5	3606066	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGCAGCTTCATACGAACTCAG -3'
(R):5'- GTCCATTCCAGACTACCTTCAGCAC -3'

Sequencing Primer
(F):5'- CTCAGAGGGTATCACTGCATC -3'
(R):5'- GACTACCTTCAGCACACAGG -3'

Posted On

2013-06-11