Incidental Mutation 'R8062:Pex1'
ID |
619769 |
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 |
067498-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R8062 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 3655656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 161
(M161R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[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: M161R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: M161R
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: M161R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: M161R
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: 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 null
Transcript: ENSMUST00000142516
AA Change: M1R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116474 Gene: ENSMUSG00000005907 AA Change: M1R
Domain | Start | End | E-Value | Type |
PDB:1WLF|A
|
1 |
21 |
5e-8 |
PDB |
|
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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 |
Abce1 |
A |
T |
8: 80,427,773 (GRCm39) |
Y172N |
possibly damaging |
Het |
Abhd2 |
T |
A |
7: 78,975,338 (GRCm39) |
M176K |
possibly damaging |
Het |
Adamts14 |
A |
G |
10: 61,036,140 (GRCm39) |
|
probably null |
Het |
Atg2a |
T |
C |
19: 6,302,609 (GRCm39) |
|
probably null |
Het |
Bach2 |
G |
A |
4: 32,562,937 (GRCm39) |
G468E |
probably damaging |
Het |
Bap1 |
T |
A |
14: 30,979,465 (GRCm39) |
N489K |
probably benign |
Het |
Btaf1 |
G |
A |
19: 36,969,865 (GRCm39) |
V1180I |
probably benign |
Het |
Calm5 |
A |
G |
13: 3,904,405 (GRCm39) |
H33R |
probably benign |
Het |
Cby2 |
A |
T |
14: 75,830,046 (GRCm39) |
I49N |
probably benign |
Het |
Cnr1 |
T |
A |
4: 33,944,707 (GRCm39) |
V365E |
possibly damaging |
Het |
Crym |
A |
C |
7: 119,800,391 (GRCm39) |
V77G |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,103,587 (GRCm39) |
E316V |
probably null |
Het |
Dab2 |
G |
A |
15: 6,456,822 (GRCm39) |
G233D |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,747,611 (GRCm39) |
S108T |
probably benign |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Duxf1 |
G |
A |
10: 58,059,632 (GRCm39) |
A374V |
unknown |
Het |
Duxf3 |
A |
C |
10: 58,066,750 (GRCm39) |
M93R |
probably benign |
Het |
Duxf3 |
G |
A |
10: 58,066,889 (GRCm39) |
L537F |
probably damaging |
Het |
Eif2s2 |
A |
G |
2: 154,719,724 (GRCm39) |
F182L |
possibly damaging |
Het |
Erlin1 |
T |
A |
19: 44,044,598 (GRCm39) |
K156I |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,568,126 (GRCm39) |
S1413P |
probably benign |
Het |
Gm1110 |
G |
A |
9: 26,793,117 (GRCm39) |
A553V |
probably damaging |
Het |
Gm3250 |
C |
A |
10: 77,618,234 (GRCm39) |
C48F |
unknown |
Het |
Gm3604 |
T |
C |
13: 62,518,155 (GRCm39) |
S68G |
probably damaging |
Het |
Golga5 |
T |
A |
12: 102,450,739 (GRCm39) |
M464K |
probably benign |
Het |
Gpr142 |
G |
A |
11: 114,697,357 (GRCm39) |
R301Q |
probably benign |
Het |
Gria4 |
C |
T |
9: 4,480,273 (GRCm39) |
D392N |
possibly damaging |
Het |
Grik2 |
T |
A |
10: 49,116,863 (GRCm39) |
T633S |
probably damaging |
Het |
Gsap |
T |
A |
5: 21,399,461 (GRCm39) |
I54N |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,366,064 (GRCm39) |
Y40H |
probably benign |
Het |
Hyal5 |
C |
A |
6: 24,876,196 (GRCm39) |
T23K |
possibly damaging |
Het |
Iqank1 |
G |
A |
15: 75,918,603 (GRCm39) |
R508H |
probably benign |
Het |
Itga6 |
T |
A |
2: 71,672,087 (GRCm39) |
F834L |
probably benign |
Het |
Klf1 |
T |
A |
8: 85,629,928 (GRCm39) |
L251Q |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,498,760 (GRCm39) |
D558G |
probably benign |
Het |
Ktn1 |
T |
A |
14: 47,962,429 (GRCm39) |
|
probably null |
Het |
Lcmt2 |
A |
G |
2: 120,970,753 (GRCm39) |
V110A |
possibly damaging |
Het |
Lgr4 |
C |
T |
2: 109,831,282 (GRCm39) |
R304C |
probably damaging |
Het |
Lnpk |
T |
A |
2: 74,381,407 (GRCm39) |
I119L |
possibly damaging |
Het |
Med13 |
A |
G |
11: 86,210,264 (GRCm39) |
V626A |
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,866,544 (GRCm39) |
L700M |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,577,123 (GRCm39) |
W138R |
|
Het |
Myh2 |
G |
T |
11: 67,084,209 (GRCm39) |
E1611* |
probably null |
Het |
Myo9b |
T |
G |
8: 71,774,457 (GRCm39) |
S323A |
probably damaging |
Het |
Or2n1c |
A |
T |
17: 38,520,065 (GRCm39) |
I310F |
probably benign |
Het |
Or4c52 |
T |
A |
2: 89,846,080 (GRCm39) |
F269I |
possibly damaging |
Het |
Or5t7 |
A |
C |
2: 86,507,410 (GRCm39) |
V89G |
probably benign |
Het |
Or8b101 |
G |
T |
9: 38,020,213 (GRCm39) |
C72F |
probably damaging |
Het |
P2ry13 |
A |
T |
3: 59,117,703 (GRCm39) |
M25K |
probably benign |
Het |
Pan3 |
T |
A |
5: 147,463,960 (GRCm39) |
F571Y |
probably benign |
Het |
Pdcd11 |
A |
G |
19: 47,119,152 (GRCm39) |
D1831G |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,163,537 (GRCm39) |
D2127V |
possibly damaging |
Het |
Plod3 |
A |
T |
5: 137,019,123 (GRCm39) |
H336L |
possibly damaging |
Het |
Pp2d1 |
A |
T |
17: 53,822,798 (GRCm39) |
N89K |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,008,230 (GRCm39) |
S736P |
probably damaging |
Het |
Prp2 |
C |
A |
6: 132,577,651 (GRCm39) |
Q313K |
unknown |
Het |
Psma5 |
T |
G |
3: 108,173,795 (GRCm39) |
D90E |
probably benign |
Het |
Reln |
G |
A |
5: 22,176,990 (GRCm39) |
T1892I |
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rsf1 |
T |
G |
7: 97,326,594 (GRCm39) |
D1039E |
|
Het |
Rtel1 |
A |
G |
2: 180,982,360 (GRCm39) |
D370G |
probably benign |
Het |
Scyl2 |
T |
A |
10: 89,490,022 (GRCm39) |
N447Y |
probably damaging |
Het |
Sis |
A |
T |
3: 72,828,321 (GRCm39) |
Y1222* |
probably null |
Het |
Slc37a3 |
A |
T |
6: 39,341,530 (GRCm39) |
H35Q |
probably damaging |
Het |
Sltm |
A |
T |
9: 70,480,779 (GRCm39) |
K210N |
unknown |
Het |
Spata3 |
T |
C |
1: 85,952,148 (GRCm39) |
I134T |
unknown |
Het |
Speer4d |
A |
T |
5: 15,825,437 (GRCm39) |
N54I |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,135,394 (GRCm39) |
|
probably null |
Het |
Tars1 |
A |
T |
15: 11,388,400 (GRCm39) |
F465Y |
possibly damaging |
Het |
Tlr4 |
T |
G |
4: 66,758,087 (GRCm39) |
N293K |
probably benign |
Het |
Tmprss13 |
C |
A |
9: 45,239,986 (GRCm39) |
T98K |
unknown |
Het |
Tnfsf8 |
G |
A |
4: 63,779,432 (GRCm39) |
|
probably benign |
Het |
Trim30b |
T |
A |
7: 104,015,393 (GRCm39) |
|
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,851,689 (GRCm39) |
K136E |
probably benign |
Het |
Ttc6 |
A |
G |
12: 57,783,764 (GRCm39) |
Y1741C |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,711,218 (GRCm39) |
D939G |
probably damaging |
Het |
Vmn1r196 |
T |
A |
13: 22,477,440 (GRCm39) |
N26K |
probably damaging |
Het |
Vmn2r50 |
C |
A |
7: 9,774,240 (GRCm39) |
|
probably null |
Het |
Wdr3 |
T |
A |
3: 100,049,810 (GRCm39) |
M773L |
probably benign |
Het |
Zfp993 |
T |
G |
4: 146,739,415 (GRCm39) |
|
probably null |
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 |
|
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'- CACGCCATTTCCCTTGAACAG -3'
(R):5'- TGAGTTCGTATGAAGCTGCCTG -3'
Sequencing Primer
(F):5'- GAACAGCATCTTCTGGATCAGATTCG -3'
(R):5'- AAGCTGCCTGGTTTGTAATTCC -3'
|
Posted On |
2020-01-23 |