Incidental Mutation 'R9004:Pex1'
ID |
685135 |
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 |
068834-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R9004 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3662914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 502
(S502G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000195894]
|
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: S502G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: S502G
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: S542G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: S542G
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 |
|
SMART Domains |
Protein: ENSMUSP00000121813 Gene: ENSMUSG00000005907 AA Change: S81G
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: 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 |
0.0865 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
Validation Efficiency |
100% (69/69) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,454,197 (GRCm39) |
|
probably benign |
Het |
2310057N15Rik |
C |
A |
16: 88,570,986 (GRCm39) |
C18F |
probably damaging |
Het |
Abca7 |
T |
A |
10: 79,841,483 (GRCm39) |
M941K |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,075,051 (GRCm39) |
I254T |
probably benign |
Het |
Abcg8 |
C |
A |
17: 85,004,790 (GRCm39) |
T519K |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,106,378 (GRCm39) |
V1149A |
probably damaging |
Het |
Alg10b |
A |
G |
15: 90,109,894 (GRCm39) |
Y69C |
probably damaging |
Het |
Arhgef10l |
T |
C |
4: 140,279,921 (GRCm39) |
D529G |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,718,276 (GRCm39) |
C1990S |
probably benign |
Het |
BC034090 |
T |
A |
1: 155,102,138 (GRCm39) |
N42I |
possibly damaging |
Het |
Bptf |
G |
A |
11: 106,945,713 (GRCm39) |
P2509S |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,225,662 (GRCm39) |
D1042V |
probably damaging |
Het |
Ccny |
A |
G |
18: 9,332,883 (GRCm39) |
V216A |
possibly damaging |
Het |
Cdr2 |
T |
C |
7: 120,557,722 (GRCm39) |
N268D |
probably benign |
Het |
Cep152 |
T |
C |
2: 125,453,020 (GRCm39) |
S351G |
probably benign |
Het |
Chrm1 |
T |
C |
19: 8,655,909 (GRCm39) |
C205R |
possibly damaging |
Het |
Dalrd3 |
C |
A |
9: 108,449,430 (GRCm39) |
D454E |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,713,798 (GRCm39) |
L1622P |
unknown |
Het |
Eif2s2 |
A |
G |
2: 154,720,404 (GRCm39) |
Y172H |
probably benign |
Het |
Ell |
T |
A |
8: 71,031,604 (GRCm39) |
S101T |
probably damaging |
Het |
Faf1 |
A |
G |
4: 109,698,550 (GRCm39) |
T337A |
probably benign |
Het |
Fhad1 |
A |
T |
4: 141,649,735 (GRCm39) |
|
probably benign |
Het |
Gen1 |
T |
C |
12: 11,305,022 (GRCm39) |
|
probably benign |
Het |
Gfap |
A |
G |
11: 102,782,268 (GRCm39) |
I414T |
probably benign |
Het |
Ginm1 |
A |
C |
10: 7,651,019 (GRCm39) |
V129G |
probably damaging |
Het |
Helq |
C |
T |
5: 100,926,598 (GRCm39) |
|
probably benign |
Het |
Hoxb3 |
A |
G |
11: 96,237,137 (GRCm39) |
D405G |
possibly damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,659,045 (GRCm39) |
V584A |
probably damaging |
Het |
Iglc2 |
T |
C |
16: 19,017,425 (GRCm39) |
K59R |
probably benign |
Het |
Inhba |
T |
C |
13: 16,201,526 (GRCm39) |
S363P |
probably benign |
Het |
Kif1c |
A |
G |
11: 70,615,958 (GRCm39) |
K656E |
probably benign |
Het |
Mroh4 |
G |
T |
15: 74,486,171 (GRCm39) |
L492I |
possibly damaging |
Het |
Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
Naaladl1 |
C |
A |
19: 6,155,965 (GRCm39) |
D46E |
probably damaging |
Het |
Nbea |
C |
T |
3: 55,910,359 (GRCm39) |
V1279I |
probably benign |
Het |
Nceh1 |
T |
A |
3: 27,293,726 (GRCm39) |
D161E |
possibly damaging |
Het |
Nck2 |
A |
T |
1: 43,593,510 (GRCm39) |
N239I |
|
Het |
Nlrx1 |
C |
T |
9: 44,167,644 (GRCm39) |
R751H |
probably benign |
Het |
Or10ag54 |
T |
A |
2: 87,099,695 (GRCm39) |
F190Y |
possibly damaging |
Het |
Or8b46 |
A |
G |
9: 38,450,530 (GRCm39) |
Y113C |
probably benign |
Het |
Or8g17 |
C |
A |
9: 38,930,580 (GRCm39) |
V86L |
probably benign |
Het |
Oscar |
A |
T |
7: 3,619,040 (GRCm39) |
C13S |
possibly damaging |
Het |
Pappa2 |
T |
A |
1: 158,763,979 (GRCm39) |
I511F |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,764,518 (GRCm39) |
D331G |
possibly damaging |
Het |
Pde4c |
C |
T |
8: 71,199,515 (GRCm39) |
S265L |
possibly damaging |
Het |
Pigl |
A |
G |
11: 62,403,779 (GRCm39) |
Y237C |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,799,421 (GRCm39) |
Q2880L |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,406,768 (GRCm39) |
H2335L |
probably benign |
Het |
Ppp1r17 |
A |
G |
6: 56,008,513 (GRCm39) |
E151G |
probably damaging |
Het |
Ppp1r27 |
A |
G |
11: 120,441,849 (GRCm39) |
Y11H |
probably damaging |
Het |
Prss54 |
C |
A |
8: 96,292,137 (GRCm39) |
K147N |
possibly damaging |
Het |
Ptchd3 |
T |
A |
11: 121,732,687 (GRCm39) |
F526I |
possibly damaging |
Het |
Ptprt |
T |
C |
2: 161,608,314 (GRCm39) |
N661D |
probably benign |
Het |
Rfpl4b |
T |
C |
10: 38,697,771 (GRCm39) |
|
probably benign |
Het |
Sdad1 |
T |
C |
5: 92,439,820 (GRCm39) |
T402A |
probably benign |
Het |
Stk32c |
T |
C |
7: 138,702,859 (GRCm39) |
D178G |
probably damaging |
Het |
Tas2r119 |
T |
C |
15: 32,178,109 (GRCm39) |
L225P |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,018 (GRCm39) |
E105V |
probably benign |
Het |
Tlk1 |
A |
G |
2: 70,552,290 (GRCm39) |
I520T |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,152,738 (GRCm39) |
V445A |
probably benign |
Het |
Tomm6 |
T |
C |
17: 47,998,833 (GRCm39) |
D40G |
possibly damaging |
Het |
Traf6 |
C |
A |
2: 101,520,443 (GRCm39) |
Q164K |
probably benign |
Het |
Tspoap1 |
A |
G |
11: 87,670,284 (GRCm39) |
H150R |
|
Het |
Ube2g2 |
A |
T |
10: 77,479,434 (GRCm39) |
M126L |
probably benign |
Het |
Unc45b |
A |
G |
11: 82,819,515 (GRCm39) |
D496G |
probably damaging |
Het |
Vmn1r74 |
A |
C |
7: 11,580,840 (GRCm39) |
I47L |
probably benign |
Het |
Vmn2r88 |
A |
T |
14: 51,650,624 (GRCm39) |
L112F |
|
Het |
Wwc2 |
A |
C |
8: 48,373,732 (GRCm39) |
L45V |
probably damaging |
Het |
Zfp459 |
A |
C |
13: 67,556,714 (GRCm39) |
I123R |
probably damaging |
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 |
R1753:Pex1
|
UTSW |
5 |
3,680,044 (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 |
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'- CATGTGTGAGAACCTGGTCATC -3'
(R):5'- AAGCGACAAGGTCAACTTCC -3'
Sequencing Primer
(F):5'- ATCAGGGTGTCTCAGGCCATG -3'
(R):5'- GGTCAACTTCCAACCTATGTGTGAG -3'
|
Posted On |
2021-10-11 |