Incidental Mutation 'R1880:Pex1'
ID |
209024 |
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 |
039901-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R1880 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3655770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 39
(V39A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
AA Change: V199A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: V199A
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: V199A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: V199A
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
AA Change: V39A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116474 Gene: ENSMUSG00000005907 AA Change: V39A
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 |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 93.2%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
A |
G |
17: 14,072,615 (GRCm39) |
D846G |
possibly damaging |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
Atp10b |
G |
T |
11: 43,150,259 (GRCm39) |
G1319V |
probably damaging |
Het |
Axl |
T |
C |
7: 25,473,973 (GRCm39) |
T315A |
probably damaging |
Het |
Brd10 |
C |
A |
19: 29,695,523 (GRCm39) |
L1323F |
probably benign |
Het |
Btnl2 |
A |
G |
17: 34,584,337 (GRCm39) |
E420G |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,316,581 (GRCm39) |
W293R |
probably damaging |
Het |
Cd209f |
A |
G |
8: 4,155,464 (GRCm39) |
|
probably null |
Het |
Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,841,394 (GRCm39) |
K1259R |
unknown |
Het |
Dpysl3 |
A |
T |
18: 43,462,939 (GRCm39) |
|
probably null |
Het |
Dus4l |
T |
C |
12: 31,690,869 (GRCm39) |
I261V |
probably benign |
Het |
Ell3 |
T |
C |
2: 121,270,792 (GRCm39) |
D247G |
probably benign |
Het |
Erg |
G |
A |
16: 95,178,168 (GRCm39) |
T246I |
probably benign |
Het |
Eva1c |
T |
C |
16: 90,694,303 (GRCm39) |
I196T |
possibly damaging |
Het |
Fbxo43 |
T |
C |
15: 36,162,661 (GRCm39) |
D182G |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,690,444 (GRCm39) |
|
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gata4 |
G |
T |
14: 63,442,144 (GRCm39) |
P20Q |
probably damaging |
Het |
Gmnc |
T |
C |
16: 26,784,361 (GRCm39) |
D48G |
probably damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,336 (GRCm39) |
A113V |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,306,260 (GRCm39) |
I481V |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,514,651 (GRCm39) |
V3574M |
probably benign |
Het |
Hnrnpul1 |
A |
G |
7: 25,432,523 (GRCm39) |
V380A |
possibly damaging |
Het |
Hspa2 |
G |
A |
12: 76,452,694 (GRCm39) |
D463N |
possibly damaging |
Het |
Itga11 |
A |
G |
9: 62,585,231 (GRCm39) |
D2G |
probably benign |
Het |
Kel |
G |
A |
6: 41,664,479 (GRCm39) |
L653F |
possibly damaging |
Het |
Lgr5 |
T |
C |
10: 115,288,184 (GRCm39) |
Y748C |
probably damaging |
Het |
Lpxn |
A |
G |
19: 12,781,452 (GRCm39) |
K57E |
probably benign |
Het |
Ltbp2 |
G |
T |
12: 84,876,045 (GRCm39) |
H501N |
probably benign |
Het |
Macf1 |
G |
A |
4: 123,332,384 (GRCm39) |
A2419V |
probably damaging |
Het |
Map3k12 |
A |
G |
15: 102,410,499 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,034,285 (GRCm39) |
V668I |
possibly damaging |
Het |
Mmp10 |
T |
C |
9: 7,505,575 (GRCm39) |
S280P |
probably benign |
Het |
Neb |
C |
A |
2: 52,148,743 (GRCm39) |
M2601I |
probably damaging |
Het |
Nsd1 |
T |
A |
13: 55,361,606 (GRCm39) |
N191K |
probably damaging |
Het |
Or2w1 |
A |
T |
13: 21,317,802 (GRCm39) |
N286Y |
probably damaging |
Het |
Or5e1 |
T |
C |
7: 108,354,335 (GRCm39) |
S91P |
probably damaging |
Het |
Or5w14 |
C |
A |
2: 87,541,639 (GRCm39) |
G204C |
probably damaging |
Het |
Or6c214 |
A |
G |
10: 129,591,290 (GRCm39) |
F10L |
probably benign |
Het |
Patj |
C |
T |
4: 98,385,477 (GRCm39) |
P364S |
probably benign |
Het |
Pira13 |
C |
T |
7: 3,827,950 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,388,638 (GRCm39) |
I1332F |
probably benign |
Het |
Polq |
T |
C |
16: 36,906,954 (GRCm39) |
V2026A |
possibly damaging |
Het |
Pomt2 |
G |
T |
12: 87,182,370 (GRCm39) |
A219D |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,571,294 (GRCm39) |
Y678N |
possibly damaging |
Het |
Rpf2 |
T |
C |
10: 40,109,154 (GRCm39) |
D95G |
possibly damaging |
Het |
Sema3c |
A |
T |
5: 17,932,464 (GRCm39) |
K656* |
probably null |
Het |
Sema4b |
A |
T |
7: 79,866,540 (GRCm39) |
S207C |
probably damaging |
Het |
Snap25 |
G |
A |
2: 136,619,305 (GRCm39) |
V153M |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,026,786 (GRCm39) |
|
probably null |
Het |
Tas2r144 |
C |
T |
6: 42,193,004 (GRCm39) |
T248I |
probably benign |
Het |
Trpv4 |
C |
T |
5: 114,761,687 (GRCm39) |
V814M |
probably benign |
Het |
Usp38 |
T |
C |
8: 81,727,695 (GRCm39) |
E346G |
probably damaging |
Het |
Vmn1r192 |
G |
T |
13: 22,371,764 (GRCm39) |
A152E |
probably benign |
Het |
Vmn1r91 |
A |
T |
7: 19,835,698 (GRCm39) |
S206C |
probably damaging |
Het |
Vps36 |
T |
C |
8: 22,703,578 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
T |
C |
5: 102,065,301 (GRCm39) |
N1289S |
probably benign |
Het |
Zfp759 |
T |
C |
13: 67,287,276 (GRCm39) |
C276R |
probably damaging |
Het |
Zkscan17 |
G |
A |
11: 59,378,455 (GRCm39) |
Q243* |
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 |
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'- ATCCAGATCGGTAGGTGATGC -3'
(R):5'- CCAAAGGAAAGCATGCTTCCG -3'
Sequencing Primer
(F):5'- GCTGTCAATCCCTGCACTAGAG -3'
(R):5'- TTCCGAGCACAGCCCAC -3'
|
Posted On |
2014-06-30 |