Incidental Mutation 'R9031:Pex1'
| ID |
687045 |
| 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 |
068860-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.503)
|
| Stock # |
R9031 (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 3686844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1242
(T1242A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000007559]
[ENSMUST00000121291]
[ENSMUST00000140871]
[ENSMUST00000196304]
|
| 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: T1242A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: T1242A
| 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: ENSMUST00000007559
|
| SMART Domains |
Protein: ENSMUSP00000007559
Gene: ENSMUSG00000007415
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gnf__
|
7 |
33 |
9e-5 |
SMART |
|
low complexity region
|
34 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121291
AA Change: T1282A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: T1282A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196304
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (81/81) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,810,466 (GRCm39) |
R921H |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,119,859 (GRCm39) |
I1123V |
probably damaging |
Het |
| Agr2 |
G |
C |
12: 36,045,565 (GRCm39) |
G17A |
probably benign |
Het |
| Akap6 |
A |
T |
12: 53,188,831 (GRCm39) |
T2082S |
probably benign |
Het |
| Asxl3 |
G |
T |
18: 22,657,401 (GRCm39) |
V1804F |
probably damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,381 (GRCm39) |
V37A |
probably benign |
Het |
| Atp1a3 |
A |
T |
7: 24,689,212 (GRCm39) |
|
probably null |
Het |
| Bpifb1 |
A |
G |
2: 154,051,848 (GRCm39) |
T218A |
probably benign |
Het |
| C030006K11Rik |
T |
A |
15: 76,607,961 (GRCm39) |
Q19L |
probably benign |
Het |
| Ccdc138 |
T |
C |
10: 58,380,893 (GRCm39) |
F508S |
probably damaging |
Het |
| Ccdc81 |
T |
A |
7: 89,542,358 (GRCm39) |
M173L |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,815,976 (GRCm39) |
I141V |
probably benign |
Het |
| Chia1 |
T |
C |
3: 106,035,777 (GRCm39) |
F206L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,511,475 (GRCm39) |
G640E |
probably damaging |
Het |
| Clcn7 |
T |
C |
17: 25,376,497 (GRCm39) |
V609A |
probably damaging |
Het |
| Cmklr2 |
T |
C |
1: 63,223,145 (GRCm39) |
E30G |
probably benign |
Het |
| Col22a1 |
C |
A |
15: 71,753,523 (GRCm39) |
G126* |
probably null |
Het |
| Cpne7 |
C |
T |
8: 123,856,951 (GRCm39) |
P402L |
probably damaging |
Het |
| Ctcfl |
A |
T |
2: 172,959,044 (GRCm39) |
D227E |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,417,942 (GRCm39) |
D134G |
probably benign |
Het |
| Cyp2c65 |
C |
A |
19: 39,061,663 (GRCm39) |
C216* |
probably null |
Het |
| Cyp2d12 |
T |
A |
15: 82,443,423 (GRCm39) |
C462S |
probably null |
Het |
| Cyp4a12a |
A |
C |
4: 115,189,199 (GRCm39) |
*509Y |
probably null |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,865 (GRCm39) |
M298V |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,178,188 (GRCm39) |
V471A |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,405,055 (GRCm39) |
S245P |
possibly damaging |
Het |
| Dnah1 |
C |
T |
14: 31,001,128 (GRCm39) |
G2406S |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,956,401 (GRCm39) |
K2127R |
probably damaging |
Het |
| Dusp13b |
G |
A |
14: 21,790,233 (GRCm39) |
R38C |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,472,594 (GRCm39) |
I4N |
probably benign |
Het |
| Eef1ece2 |
C |
T |
16: 20,459,375 (GRCm39) |
P570L |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,790,908 (GRCm39) |
N723S |
possibly damaging |
Het |
| Galnt15 |
T |
A |
14: 31,770,027 (GRCm39) |
V368E |
probably damaging |
Het |
| Garem2 |
A |
G |
5: 30,313,262 (GRCm39) |
E42G |
possibly damaging |
Het |
| Gcc1 |
C |
T |
6: 28,418,182 (GRCm39) |
S717N |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,309,201 (GRCm39) |
|
probably null |
Het |
| Helb |
T |
C |
10: 119,920,790 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,874,261 (GRCm39) |
I2078F |
possibly damaging |
Het |
| Hsph1 |
A |
T |
5: 149,553,270 (GRCm39) |
V297D |
probably damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,302,079 (GRCm39) |
Y518C |
probably benign |
Het |
| Kcnip2 |
T |
A |
19: 45,783,210 (GRCm39) |
D153V |
probably damaging |
Het |
| Kif15 |
A |
T |
9: 122,846,492 (GRCm39) |
|
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,073,042 (GRCm39) |
F147L |
probably damaging |
Het |
| Klhl29 |
T |
C |
12: 5,140,537 (GRCm39) |
R702G |
probably damaging |
Het |
| Lemd3 |
C |
T |
10: 120,767,878 (GRCm39) |
E667K |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,012,503 (GRCm39) |
L14P |
probably damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,900,963 (GRCm39) |
K423* |
probably null |
Het |
| Mia2 |
A |
G |
12: 59,155,586 (GRCm39) |
D433G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,954,099 (GRCm39) |
A216E |
probably benign |
Het |
| Mro |
T |
C |
18: 74,009,911 (GRCm39) |
|
probably null |
Het |
| Mybpc1 |
T |
G |
10: 88,358,906 (GRCm39) |
Y1081S |
probably damaging |
Het |
| Myh8 |
T |
G |
11: 67,190,141 (GRCm39) |
S1260R |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,082,094 (GRCm39) |
V618A |
probably damaging |
Het |
| Naip2 |
T |
G |
13: 100,314,776 (GRCm39) |
D334A |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,107,608 (GRCm39) |
*983Q |
probably null |
Het |
| Nlrp9a |
T |
G |
7: 26,257,698 (GRCm39) |
F439V |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,319,368 (GRCm39) |
L64H |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,924,060 (GRCm39) |
E246G |
probably benign |
Het |
| Otof |
G |
A |
5: 30,537,532 (GRCm39) |
S1259F |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,599,675 (GRCm39) |
T2438A |
probably damaging |
Het |
| Pink1 |
A |
T |
4: 138,043,056 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,251,819 (GRCm39) |
T219A |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,458 (GRCm39) |
Y88* |
probably null |
Het |
| Ptpru |
A |
G |
4: 131,515,691 (GRCm39) |
Y888H |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,578,667 (GRCm39) |
N1063S |
probably benign |
Het |
| Slc1a4 |
G |
A |
11: 20,282,532 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,205,568 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
T |
13: 73,819,822 (GRCm39) |
N249K |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,214 (GRCm39) |
I104L |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,905,871 (GRCm39) |
S897R |
probably benign |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,744,146 (GRCm39) |
S69P |
probably damaging |
Het |
| Tnpo2 |
A |
G |
8: 85,780,163 (GRCm39) |
K700E |
probably benign |
Het |
| Top3a |
T |
C |
11: 60,636,695 (GRCm39) |
K657E |
probably damaging |
Het |
| Trgv4 |
C |
T |
13: 19,369,169 (GRCm39) |
Q7* |
probably null |
Het |
| Trim6 |
T |
C |
7: 103,875,159 (GRCm39) |
L132P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,032,987 (GRCm39) |
T474A |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,234 (GRCm39) |
I142L |
probably benign |
Het |
| Zbtb2 |
A |
T |
10: 4,319,183 (GRCm39) |
F281Y |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,723,433 (GRCm39) |
V1812A |
probably benign |
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 |
|
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'- CAGCTTGGAGCCAAATGTTG -3'
(R):5'- CCTGCACTGTTAATCTCAGGTAG -3'
Sequencing Primer
(F):5'- CAAATGTTGGCACTTCTCTCATTAG -3'
(R):5'- GTAGTCCTGAGCAGAATCACAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation