Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Pex1'

672472

Institutional Source

Beutler Lab

Gene Symbol

Pex1

Ensembl Gene

ENSMUSG00000005907

Gene Name

peroxisomal biogenesis factor 1

Synonyms

peroxisome biogenesis factor 1, ZWS1

MMRRC Submission

Accession Numbers

Genbank: NM_027777

Essential gene?

Possibly essential (E-score: 0.516) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3596066-3637232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3631614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 980 (V980A)

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 benign
Transcript: ENSMUST00000006061
AA Change: V980A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: V980A

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: V1020A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: V1020A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	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
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
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
R9586:Pex1	UTSW	5	3626047	missense	probably damaging	0.98
R9655:Pex1	UTSW	5	3605653	missense	probably damaging	1.00
R9758:Pex1	UTSW	5	3635876	missense	probably damaging	0.96
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'- ACCTGTGTCTCCTCTTAGGG -3'
(R):5'- GCAGTAAAGTGCTCTTTCCCTC -3'

Sequencing Primer
(F):5'- TCTTAGGGATCCCAGTCTAAGAACG -3'
(R):5'- TCAGCGACCGCCCTAATG -3'

Posted On

2021-04-30