Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Pex1'

193719

Institutional Source

Beutler Lab

Gene Symbol

Pex1

Ensembl Gene

ENSMUSG00000005907

Gene Name

peroxisomal biogenesis factor 1

Synonyms

peroxisome biogenesis factor 1, 5430414H02Rik, E330005K07Rik, ZWS1

MMRRC Submission

039785-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.503) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3646066-3687230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3680044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 914 (N914I)

Ref Sequence

ENSEMBL: ENSMUSP00000006061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000121291] [ENSMUST00000140871]

AlphaFold

Q5BL07

PDB Structure

Structure of the N-terminal domain of PEX1 AAA-ATPase: Characterization of a putative adaptor-binding domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006061
AA Change: N914I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: N914I

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 damaging
Transcript: ENSMUST00000121291
AA Change: N954I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: N954I

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

probably benign
Transcript: ENSMUST00000140871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199650

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,864,542 (GRCm39)	F409I	probably benign	Het
Adamts19	A	C	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,696,240 (GRCm39)	S306G	probably damaging	Het
Adamts8	T	G	9: 30,865,910 (GRCm39)	I486S	probably benign	Het
Adgrg5	T	C	8: 95,668,680 (GRCm39)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,627,134 (GRCm39)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,421,974 (GRCm39)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,133,992 (GRCm39)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,507,352 (GRCm39)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cd2	A	T	3: 101,194,815 (GRCm39)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,814,688 (GRCm39)	Y157*	probably null	Het
Celsr3	G	T	9: 108,709,056 (GRCm39)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,704,235 (GRCm39)	G961S	probably damaging	Het
Cep290	T	C	10: 100,349,843 (GRCm39)	V630A	probably benign	Het
Chd5	C	T	4: 152,463,272 (GRCm39)	S1451F	probably damaging	Het
Cldn23	A	C	8: 36,293,140 (GRCm39)	L116R	possibly damaging	Het
Cngb1	A	T	8: 96,024,401 (GRCm39)		probably benign	Het
Cpb1	G	T	3: 20,320,405 (GRCm39)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,078,918 (GRCm39)	F261S	probably damaging	Het
Crlf3	A	C	11: 79,948,698 (GRCm39)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,207,134 (GRCm39)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,061,085 (GRCm39)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,120,741 (GRCm39)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,009,669 (GRCm39)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,361,495 (GRCm39)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,923,342 (GRCm39)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,163,910 (GRCm39)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,350,284 (GRCm39)	S13T	probably benign	Het
Ercc6	T	C	14: 32,298,956 (GRCm39)	V1448A	probably benign	Het
Esp24	A	G	17: 39,350,893 (GRCm39)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,837,969 (GRCm39)	M338K	probably benign	Het
Fbxl9	A	T	8: 106,039,824 (GRCm39)	V517E	probably damaging	Het
Fgfbp1	A	C	5: 44,137,265 (GRCm39)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,868,338 (GRCm39)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,237,404 (GRCm39)	C372W	probably damaging	Het
Grn	T	G	11: 102,324,093 (GRCm39)	C61G	probably damaging	Het
Herc1	T	G	9: 66,376,292 (GRCm39)	C3371G	probably damaging	Het
Herc1	T	C	9: 66,409,366 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,462,219 (GRCm39)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,347,461 (GRCm39)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,260 (GRCm39)	H399L	probably benign	Het
Irx3	G	A	8: 92,527,362 (GRCm39)	P114L	probably damaging	Het
Kat6a	T	A	8: 23,425,813 (GRCm39)	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,741,363 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,897,869 (GRCm39)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,326,833 (GRCm39)	Q1746L	possibly damaging	Het
Lrrc63	A	T	14: 75,323,784 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,750,417 (GRCm39)	M978T	probably benign	Het
Mon1a	A	C	9: 107,778,562 (GRCm39)	N262T	probably damaging	Het
Mpo	A	G	11: 87,686,707 (GRCm39)	N85D	probably benign	Het
Mpp4	T	C	1: 59,183,969 (GRCm39)	D244G	probably null	Het
Mstn	A	G	1: 53,105,717 (GRCm39)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,255,358 (GRCm39)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,380,157 (GRCm39)	R308G	probably benign	Het
Myh11	A	T	16: 14,095,734 (GRCm39)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,410,392 (GRCm39)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,598,431 (GRCm39)	T122N	possibly damaging	Het
Nras	A	G	3: 102,966,295 (GRCm39)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,628,652 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,439 (GRCm39)	Y62C	probably damaging	Het
Or51g2	T	C	7: 102,622,263 (GRCm39)	N312S	probably benign	Het
Or5aq6	T	C	2: 86,923,571 (GRCm39)	T57A	probably damaging	Het
Or5w18	T	A	2: 87,633,106 (GRCm39)	F124L	probably benign	Het
Or9s14	G	A	1: 92,536,122 (GRCm39)	V188M	probably benign	Het
Pcdh17	A	T	14: 84,715,094 (GRCm39)	T920S	probably benign	Het
Pcdh9	T	C	14: 94,124,661 (GRCm39)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,569,724 (GRCm39)	T290I	probably damaging	Het
Pde6b	C	A	5: 108,536,557 (GRCm39)	C84*	probably null	Het
Pign	A	G	1: 105,517,042 (GRCm39)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,604,129 (GRCm39)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,173,112 (GRCm39)	K489E	probably damaging	Het
Prob1	T	C	18: 35,786,305 (GRCm39)	T650A	possibly damaging	Het
Radil	T	C	5: 142,481,091 (GRCm39)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 78,996,098 (GRCm39)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,510,386 (GRCm39)		probably null	Het
Rnaset2b	G	A	17: 7,248,506 (GRCm39)		probably null	Het
S1pr1	A	G	3: 115,505,587 (GRCm39)	S336P	probably benign	Het
Slc24a5	A	G	2: 124,925,115 (GRCm39)	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,218,733 (GRCm39)	I184F	probably benign	Het
Slc35a3	A	G	3: 116,471,597 (GRCm39)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,723,976 (GRCm39)	H211R	probably damaging	Het
Slu7	A	G	11: 43,330,095 (GRCm39)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,800,820 (GRCm39)	Y131*	probably null	Het
Syne1	A	G	10: 5,317,621 (GRCm39)	M491T	probably benign	Het
Tars1	G	A	15: 11,394,329 (GRCm39)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,866,919 (GRCm39)	E660D	probably benign	Het
Ttn	T	C	2: 76,575,387 (GRCm39)	T16842A	probably damaging	Het
Ttn	T	C	2: 76,643,316 (GRCm39)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,582,605 (GRCm39)	M22763L	probably benign	Het
Ubp1	A	T	9: 113,785,037 (GRCm39)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,234,756 (GRCm39)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,577,669 (GRCm39)	Q290*	probably null	Het
Vnn3	T	C	10: 23,741,718 (GRCm39)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,189,945 (GRCm39)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,753,313 (GRCm39)	E625*	probably null	Het
Wdr6	C	T	9: 108,452,363 (GRCm39)	V507I	probably damaging	Het
Zp2	A	T	7: 119,737,328 (GRCm39)	W287R	probably benign	Het

Other mutations in Pex1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Pex1	APN	5	3,656,027 (GRCm39)	missense	probably benign	0.00
IGL01315:Pex1	APN	5	3,659,975 (GRCm39)	missense	probably damaging	1.00
IGL01671:Pex1	APN	5	3,674,088 (GRCm39)	missense	probably benign	0.00
IGL01863:Pex1	APN	5	3,656,066 (GRCm39)	missense	probably benign	0.01
IGL01933:Pex1	APN	5	3,683,789 (GRCm39)	missense	probably damaging	1.00
IGL01960:Pex1	APN	5	3,677,588 (GRCm39)	unclassified	probably benign
IGL02347:Pex1	APN	5	3,653,350 (GRCm39)	missense	probably damaging	0.98
IGL02374:Pex1	APN	5	3,685,481 (GRCm39)	missense	probably benign	0.01
IGL02392:Pex1	APN	5	3,655,952 (GRCm39)	nonsense	probably null
IGL02597:Pex1	APN	5	3,685,865 (GRCm39)	missense	possibly damaging	0.50
IGL02703:Pex1	APN	5	3,665,120 (GRCm39)	missense	probably benign	0.24
IGL02815:Pex1	APN	5	3,686,797 (GRCm39)	missense	probably damaging	0.97
IGL02862:Pex1	APN	5	3,655,424 (GRCm39)	intron	probably benign
IGL03005:Pex1	APN	5	3,680,292 (GRCm39)	missense	probably null	0.96
E0370:Pex1	UTSW	5	3,681,614 (GRCm39)	splice site	probably null
F5493:Pex1	UTSW	5	3,685,912 (GRCm39)	critical splice donor site	probably null
R0014:Pex1	UTSW	5	3,676,141 (GRCm39)	unclassified	probably benign
R0014:Pex1	UTSW	5	3,676,141 (GRCm39)	unclassified	probably benign
R0401:Pex1	UTSW	5	3,683,759 (GRCm39)	missense	probably damaging	1.00
R0480:Pex1	UTSW	5	3,656,444 (GRCm39)	splice site	probably null
R0555:Pex1	UTSW	5	3,656,130 (GRCm39)	missense	possibly damaging	0.89
R0976:Pex1	UTSW	5	3,683,943 (GRCm39)	missense	probably benign	0.00
R1200:Pex1	UTSW	5	3,656,411 (GRCm39)	critical splice donor site	probably null
R1672:Pex1	UTSW	5	3,676,085 (GRCm39)	missense	probably damaging	1.00
R1880:Pex1	UTSW	5	3,655,770 (GRCm39)	missense	probably benign
R1953:Pex1	UTSW	5	3,680,038 (GRCm39)	missense	probably damaging	1.00
R2054:Pex1	UTSW	5	3,653,341 (GRCm39)	missense	possibly damaging	0.78
R2081:Pex1	UTSW	5	3,674,132 (GRCm39)	critical splice donor site	probably null
R2237:Pex1	UTSW	5	3,668,915 (GRCm39)	critical splice donor site	probably null
R3946:Pex1	UTSW	5	3,676,084 (GRCm39)	missense	probably damaging	1.00
R4528:Pex1	UTSW	5	3,681,712 (GRCm39)	missense	probably damaging	1.00
R4579:Pex1	UTSW	5	3,668,880 (GRCm39)	missense	probably benign	0.03
R4585:Pex1	UTSW	5	3,683,885 (GRCm39)	missense	probably damaging	1.00
R4586:Pex1	UTSW	5	3,683,885 (GRCm39)	missense	probably damaging	1.00
R4656:Pex1	UTSW	5	3,654,880 (GRCm39)	critical splice donor site	probably null
R4789:Pex1	UTSW	5	3,680,270 (GRCm39)	missense	probably damaging	0.98
R4850:Pex1	UTSW	5	3,674,426 (GRCm39)	missense	probably benign
R4963:Pex1	UTSW	5	3,659,924 (GRCm39)	missense	probably benign	0.01
R5005:Pex1	UTSW	5	3,672,310 (GRCm39)	missense	probably damaging	1.00
R5015:Pex1	UTSW	5	3,670,597 (GRCm39)	missense	probably damaging	1.00
R5019:Pex1	UTSW	5	3,672,331 (GRCm39)	missense	probably damaging	1.00
R5937:Pex1	UTSW	5	3,674,487 (GRCm39)	missense	possibly damaging	0.94
R5942:Pex1	UTSW	5	3,660,277 (GRCm39)	missense	probably benign	0.04
R5995:Pex1	UTSW	5	3,657,704 (GRCm39)	missense	possibly damaging	0.53
R6434:Pex1	UTSW	5	3,680,196 (GRCm39)	nonsense	probably null
R6552:Pex1	UTSW	5	3,673,953 (GRCm39)	missense	probably damaging	1.00
R6777:Pex1	UTSW	5	3,672,358 (GRCm39)	missense	probably benign	0.01
R6877:Pex1	UTSW	5	3,685,505 (GRCm39)	missense	probably benign	0.19
R6948:Pex1	UTSW	5	3,655,994 (GRCm39)	missense	probably benign	0.00
R7317:Pex1	UTSW	5	3,668,875 (GRCm39)	missense	probably damaging	1.00
R7408:Pex1	UTSW	5	3,680,222 (GRCm39)	missense	probably damaging	1.00
R7658:Pex1	UTSW	5	3,646,244 (GRCm39)	unclassified	probably benign
R8062:Pex1	UTSW	5	3,655,656 (GRCm39)	missense	probably benign
R8354:Pex1	UTSW	5	3,681,707 (GRCm39)	missense	probably damaging	1.00
R8366:Pex1	UTSW	5	3,676,007 (GRCm39)	missense	probably benign	0.00
R8482:Pex1	UTSW	5	3,662,923 (GRCm39)	missense	probably benign	0.00
R8673:Pex1	UTSW	5	3,685,886 (GRCm39)	missense	possibly damaging	0.65
R8812:Pex1	UTSW	5	3,681,614 (GRCm39)	missense	probably benign	0.00
R9004:Pex1	UTSW	5	3,662,914 (GRCm39)	missense	probably benign	0.01
R9031:Pex1	UTSW	5	3,686,844 (GRCm39)	missense	probably damaging	1.00
R9080:Pex1	UTSW	5	3,655,476 (GRCm39)	missense	probably damaging	1.00
R9586:Pex1	UTSW	5	3,676,047 (GRCm39)	missense	probably damaging	0.98
R9655:Pex1	UTSW	5	3,655,653 (GRCm39)	missense	probably damaging	1.00
R9758:Pex1	UTSW	5	3,685,876 (GRCm39)	missense	probably damaging	0.96
X0019:Pex1	UTSW	5	3,655,653 (GRCm39)	missense	probably damaging	1.00
X0027:Pex1	UTSW	5	3,680,270 (GRCm39)	missense	probably damaging	0.98
Z1088:Pex1	UTSW	5	3,656,075 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CGGAAGCCAGGGAGTACACATCAAAA -3'
(R):5'- GCGACTAGTAGCAGCCAGCACATAAA -3'

Sequencing Primer
(F):5'- cttgaactcagaaatccgcc -3'
(R):5'- GCCAGCACATAAACTCCTGAG -3'

Posted On

2014-05-23