Incidental Mutation 'R8673:Pex1'
| ID |
661250 |
| 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 |
068528-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.503)
|
| Stock # |
R8673 (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 C
at 3685886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 1209
(D1209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000007559]
[ENSMUST00000121291]
[ENSMUST00000140871]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000006061
AA Change: D1209A
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: D1209A
| 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 |
possibly damaging
Transcript: ENSMUST00000121291
AA Change: D1249A
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: D1249A
| 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
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Anxa9 |
C |
T |
3: 95,207,657 (GRCm39) |
R250Q |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,831,530 (GRCm39) |
S1195P |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,212,852 (GRCm39) |
|
probably benign |
Het |
| Bpifb6 |
G |
T |
2: 153,747,212 (GRCm39) |
C172F |
probably damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,018,286 (GRCm39) |
D7E |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,844,846 (GRCm39) |
I580F |
probably damaging |
Het |
| Chchd6 |
T |
A |
6: 89,546,380 (GRCm39) |
S109C |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,648,201 (GRCm39) |
|
probably benign |
Het |
| Col4a6 |
G |
A |
X: 140,017,173 (GRCm39) |
P60L |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,351,915 (GRCm39) |
T264I |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,830,151 (GRCm39) |
S58P |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,122,293 (GRCm39) |
H907Q |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,405,523 (GRCm39) |
M663K |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,160,867 (GRCm39) |
M1791I |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,969,952 (GRCm39) |
F8S |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,302,300 (GRCm39) |
Y273H |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,318,576 (GRCm39) |
H935Q |
possibly damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,235,633 (GRCm39) |
M45R |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,258 (GRCm39) |
T114A |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,082,997 (GRCm39) |
D98N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv1-99 |
C |
T |
6: 68,519,387 (GRCm39) |
Q115* |
probably null |
Het |
| Irak3 |
G |
T |
10: 119,982,493 (GRCm39) |
T323K |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,804 (GRCm39) |
D2975G |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,126,142 (GRCm39) |
W319R |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,343 (GRCm39) |
D206G |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,114,658 (GRCm39) |
D8V |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,590 (GRCm39) |
V25A |
probably benign |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,581 (GRCm39) |
I85T |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,170,868 (GRCm39) |
D355G |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,638 (GRCm39) |
S413P |
probably damaging |
Het |
| Ptgir |
G |
T |
7: 16,641,287 (GRCm39) |
C193F |
probably damaging |
Het |
| Rad21l |
A |
G |
2: 151,502,718 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,292,133 (GRCm39) |
R773H |
probably damaging |
Het |
| Rasgef1b |
G |
T |
5: 99,370,844 (GRCm39) |
N385K |
probably damaging |
Het |
| Shank3 |
C |
T |
15: 89,433,979 (GRCm39) |
R1575C |
probably damaging |
Het |
| Slc7a2 |
G |
T |
8: 41,365,446 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,561 (GRCm39) |
H1396R |
probably benign |
Het |
| Spire2 |
A |
G |
8: 124,086,867 (GRCm39) |
E446G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,558,918 (GRCm39) |
C351* |
probably null |
Het |
| Thoc5 |
G |
A |
11: 4,876,061 (GRCm39) |
V605I |
possibly damaging |
Het |
| Ttll2 |
C |
T |
17: 7,619,340 (GRCm39) |
V196I |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,284,178 (GRCm39) |
Y576H |
probably damaging |
Het |
| Vegfb |
G |
A |
19: 6,962,812 (GRCm39) |
P188L |
unknown |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,521,902 (GRCm39) |
T146S |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,584 (GRCm39) |
Y945C |
probably damaging |
Het |
| Zfp870 |
C |
T |
17: 33,101,904 (GRCm39) |
C475Y |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,678,268 (GRCm39) |
T98S |
possibly 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 |
|
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'- TGAGAAAGAGAATGTTCGCTTCTC -3'
(R):5'- GGGTTTCACATATCCCAGGCAG -3'
Sequencing Primer
(F):5'- GTTCGCTTCTCAGGAAAGAAC -3'
(R):5'- ACATATCCCAGGCAGTTCTGTCG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation