Incidental Mutation 'R9080:Pex1'
| ID |
689945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex1
|
| Ensembl Gene |
ENSMUSG00000005907 |
| Gene Name |
peroxisomal biogenesis factor 1 |
| Synonyms |
peroxisome biogenesis factor 1, 5430414H02Rik, E330005K07Rik, ZWS1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.503)
|
| Stock # |
R9080 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3655476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 134
(I134V)
|
| 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 damaging
Transcript: ENSMUST00000006061
AA Change: I134V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: I134V
| 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 |
possibly damaging
Transcript: ENSMUST00000121291
AA Change: I134V
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: I134V
| 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 benign
Transcript: ENSMUST00000142516
|
| SMART Domains |
Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907
| 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: 99.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
T |
C |
6: 52,155,973 (GRCm39) |
I13T |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,398 (GRCm39) |
V160L |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,449,427 (GRCm39) |
M279K |
probably damaging |
Het |
| Adgra2 |
T |
C |
8: 27,604,529 (GRCm39) |
S535P |
probably benign |
Het |
| Akr1c13 |
C |
T |
13: 4,241,172 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,464,426 (GRCm39) |
I1690T |
possibly damaging |
Het |
| Ccdc138 |
A |
G |
10: 58,397,884 (GRCm39) |
M575V |
probably damaging |
Het |
| Cfap100 |
T |
C |
6: 90,383,183 (GRCm39) |
N330S |
unknown |
Het |
| Col12a1 |
T |
C |
9: 79,517,133 (GRCm39) |
D2849G |
probably benign |
Het |
| Cox11 |
G |
A |
11: 90,535,246 (GRCm39) |
M232I |
probably damaging |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Cspp1 |
G |
A |
1: 10,183,919 (GRCm39) |
S848N |
probably benign |
Het |
| Cxcr5 |
A |
G |
9: 44,424,563 (GRCm39) |
S365P |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,458,589 (GRCm39) |
M389L |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,052,006 (GRCm39) |
D124G |
probably benign |
Het |
| Dtx3 |
A |
T |
10: 127,027,137 (GRCm39) |
S346T |
possibly damaging |
Het |
| Exosc10 |
A |
G |
4: 148,649,121 (GRCm39) |
D337G |
probably damaging |
Het |
| Fpr1 |
G |
A |
17: 18,097,212 (GRCm39) |
A259V |
probably benign |
Het |
| Gm11232 |
A |
T |
4: 71,676,070 (GRCm39) |
M25K |
probably benign |
Het |
| Gm4950 |
A |
G |
18: 51,998,922 (GRCm39) |
V11A |
possibly damaging |
Het |
| Gsap |
C |
T |
5: 21,399,410 (GRCm39) |
T37I |
possibly damaging |
Het |
| Igfbp2 |
T |
A |
1: 72,891,157 (GRCm39) |
C252S |
probably damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,808 (GRCm39) |
T247A |
possibly damaging |
Het |
| Ints1 |
C |
T |
5: 139,739,300 (GRCm39) |
V2028M |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,466,874 (GRCm39) |
F400L |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,673,633 (GRCm39) |
Y889C |
probably benign |
Het |
| Kcnh3 |
A |
G |
15: 99,139,667 (GRCm39) |
E882G |
probably damaging |
Het |
| Limch1 |
T |
A |
5: 67,174,992 (GRCm39) |
C515S |
probably benign |
Het |
| Lrrc74a |
G |
T |
12: 86,795,908 (GRCm39) |
V294F |
possibly damaging |
Het |
| Megf8 |
A |
G |
7: 25,041,131 (GRCm39) |
E1120G |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,912,516 (GRCm39) |
Y1090* |
probably null |
Het |
| Nckap1 |
A |
G |
2: 80,350,726 (GRCm39) |
Y794H |
probably damaging |
Het |
| Nfib |
T |
C |
4: 82,623,754 (GRCm39) |
M25V |
|
Het |
| Ogfod2 |
A |
G |
5: 124,253,007 (GRCm39) |
E339G |
probably damaging |
Het |
| Olah |
T |
A |
2: 3,349,389 (GRCm39) |
E64V |
probably damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,830 (GRCm39) |
V197D |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,548,563 (GRCm39) |
L81H |
probably damaging |
Het |
| Pdcd6ip |
T |
A |
9: 113,520,624 (GRCm39) |
K120M |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,359,039 (GRCm39) |
H576R |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,637,494 (GRCm39) |
H127Q |
probably damaging |
Het |
| Rmnd5b |
C |
T |
11: 51,515,055 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Sec16b |
C |
A |
1: 157,393,300 (GRCm39) |
Q995K |
probably benign |
Het |
| Serpinb6d |
T |
A |
13: 33,855,107 (GRCm39) |
S260R |
probably benign |
Het |
| Slc47a1 |
C |
T |
11: 61,264,219 (GRCm39) |
G67S |
possibly damaging |
Het |
| Slco6d1 |
T |
C |
1: 98,348,983 (GRCm39) |
V18A |
probably benign |
Het |
| Tfcp2 |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA |
15: 100,395,968 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
G |
17: 3,464,519 (GRCm39) |
C83G |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,253,843 (GRCm39) |
G743R |
probably damaging |
Het |
| Tnks |
CCCGCCGCCGCCGCCGCCGCCG |
CCCGCCGCCGCCGCCGCCG |
8: 35,432,466 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,536,843 (GRCm39) |
T34994I |
probably benign |
Het |
| Ube2q2l |
T |
A |
6: 136,377,720 (GRCm39) |
D370V |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,295,017 (GRCm39) |
E536D |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,612,308 (GRCm39) |
E836G |
probably damaging |
Het |
| Vmn1r41 |
C |
T |
6: 89,724,138 (GRCm39) |
T63M |
unknown |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,464 (GRCm39) |
I700S |
probably damaging |
Het |
| Xrcc4 |
T |
C |
13: 90,149,097 (GRCm39) |
N141S |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,844,155 (GRCm39) |
V6A |
unknown |
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 |
|
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 |
|
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'- ACAAGACAACAATGGTTAGCTG -3'
(R):5'- AGCTGGCATCAGAGTGACTG -3'
Sequencing Primer
(F):5'- GATCTGCCGTATGTATTCCATGGC -3'
(R):5'- CTGGCATCAGAGTGACTGGGTAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation