Incidental Mutation 'R4963:Pex1'
| ID |
383704 |
| 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 |
042560-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.503)
|
| Stock # |
R4963 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3659924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 476
(M476K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
| AlphaFold |
Q5BL07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
AA Change: M436K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: M436K
| 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: M476K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: M476K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907
| 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 |
|
| Meta Mutation Damage Score |
0.0641 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
97% (74/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,470,582 (GRCm39) |
I133N |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,960,142 (GRCm39) |
S642P |
probably damaging |
Het |
| Abcg5 |
G |
T |
17: 84,967,569 (GRCm39) |
Y410* |
probably null |
Het |
| Anapc7 |
T |
A |
5: 122,560,669 (GRCm39) |
M10K |
probably damaging |
Het |
| Ank2 |
G |
A |
3: 126,825,745 (GRCm39) |
T418M |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,907,583 (GRCm39) |
R260G |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,694,051 (GRCm39) |
T381A |
probably damaging |
Het |
| Cep89 |
T |
G |
7: 35,102,577 (GRCm39) |
S97A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,204,619 (GRCm39) |
D309G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,286,145 (GRCm39) |
I768T |
probably benign |
Het |
| Defa41 |
C |
T |
8: 21,691,774 (GRCm39) |
S52F |
probably damaging |
Het |
| Dgke |
A |
G |
11: 88,941,628 (GRCm39) |
V249A |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,975,437 (GRCm39) |
|
probably null |
Het |
| Dnajc3 |
C |
A |
14: 119,215,585 (GRCm39) |
H502N |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,846 (GRCm39) |
T2265A |
probably damaging |
Het |
| Enpp6 |
A |
G |
8: 47,518,496 (GRCm39) |
D208G |
probably benign |
Het |
| Evc |
C |
T |
5: 37,479,393 (GRCm39) |
|
probably null |
Het |
| Fam98a |
A |
G |
17: 75,845,977 (GRCm39) |
S285P |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gsdmc |
A |
G |
15: 63,676,229 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
C |
A |
13: 9,035,253 (GRCm39) |
D369Y |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,982,630 (GRCm39) |
Y77H |
probably benign |
Het |
| Irx2 |
T |
C |
13: 72,780,729 (GRCm39) |
V466A |
possibly damaging |
Het |
| Kcnh4 |
C |
A |
11: 100,643,079 (GRCm39) |
W396L |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,476,808 (GRCm39) |
D614G |
possibly damaging |
Het |
| Kirrel2 |
C |
A |
7: 30,150,226 (GRCm39) |
|
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,551,426 (GRCm39) |
I182V |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,288,815 (GRCm39) |
S252R |
probably damaging |
Het |
| Marchf8 |
G |
A |
6: 116,363,232 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
C |
A |
4: 32,756,512 (GRCm39) |
Q4735K |
probably benign |
Het |
| Mfrp |
A |
T |
9: 44,014,561 (GRCm39) |
H236L |
probably benign |
Het |
| Mlph |
A |
G |
1: 90,867,112 (GRCm39) |
D378G |
probably damaging |
Het |
| Msi1 |
T |
A |
5: 115,588,944 (GRCm39) |
Y320N |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,070,567 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
T |
C |
18: 4,375,638 (GRCm39) |
V6A |
probably benign |
Het |
| Nedd1 |
C |
A |
10: 92,530,893 (GRCm39) |
D399Y |
probably damaging |
Het |
| Ninl |
A |
G |
2: 150,781,829 (GRCm39) |
Y234H |
probably benign |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nle1 |
A |
G |
11: 82,795,763 (GRCm39) |
V228A |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,868,973 (GRCm39) |
D105V |
probably damaging |
Het |
| Or1f12 |
A |
G |
13: 21,722,152 (GRCm39) |
Y8H |
probably damaging |
Het |
| Palld |
C |
T |
8: 62,156,244 (GRCm39) |
V464M |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,719,235 (GRCm39) |
V1124A |
unknown |
Het |
| Pkhd1l1 |
G |
A |
15: 44,367,421 (GRCm39) |
S773N |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Prmt9 |
A |
G |
8: 78,282,358 (GRCm39) |
D85G |
probably damaging |
Het |
| Ptpn12 |
T |
A |
5: 21,220,706 (GRCm39) |
|
probably null |
Het |
| Rbm19 |
T |
A |
5: 120,279,631 (GRCm39) |
M766K |
probably damaging |
Het |
| Rdh11 |
A |
G |
12: 79,235,380 (GRCm39) |
V72A |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,367 (GRCm39) |
V335A |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,431,318 (GRCm39) |
K127E |
possibly damaging |
Het |
| Slc5a1 |
C |
T |
5: 33,318,126 (GRCm39) |
T593I |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,868,825 (GRCm39) |
F380L |
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,450,826 (GRCm39) |
S215P |
probably damaging |
Het |
| Smyd2 |
A |
T |
1: 189,614,385 (GRCm39) |
V381E |
probably damaging |
Het |
| Smyd4 |
C |
T |
11: 75,273,120 (GRCm39) |
S60L |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,836,336 (GRCm39) |
V419E |
probably damaging |
Het |
| Terb1 |
A |
G |
8: 105,208,950 (GRCm39) |
L376S |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,573,617 (GRCm39) |
E129G |
possibly damaging |
Het |
| Topbp1 |
C |
A |
9: 103,197,804 (GRCm39) |
T461K |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,031,428 (GRCm39) |
R1069Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,584,289 (GRCm39) |
V22273A |
probably damaging |
Het |
| Tulp4 |
G |
A |
17: 6,249,088 (GRCm39) |
E36K |
probably damaging |
Het |
| Uqcrfs1 |
A |
T |
13: 30,724,746 (GRCm39) |
F265I |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,403 (GRCm39) |
Q652L |
probably damaging |
Het |
| Vwf |
C |
T |
6: 125,644,446 (GRCm39) |
R2434* |
probably null |
Het |
| Wdhd1 |
A |
G |
14: 47,506,146 (GRCm39) |
V256A |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,415 (GRCm39) |
C439S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,632 (GRCm39) |
T354A |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,755,454 (GRCm39) |
I149N |
probably 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 |
|
|
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'- CATAGCAGGTCACGCATCAG -3'
(R):5'- AGAACACTGTTTCGTTTCACTG -3'
Sequencing Primer
(F):5'- GCATGTAGCGTCTGAACATCCTG -3'
(R):5'- GTTTCACTGTTCATGTGTGACAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation