Incidental Mutation 'R4656:Pex1'
ID |
397256 |
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 |
041916-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R4656 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 3654880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably null
Transcript: ENSMUST00000006061
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907
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 null
Transcript: ENSMUST00000121291
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907
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 null
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 |
0.9493 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
96% (80/83) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
G |
A |
5: 88,112,534 (GRCm39) |
|
probably benign |
Het |
4931406B18Rik |
T |
A |
7: 43,150,565 (GRCm39) |
H69L |
probably benign |
Het |
Ace2 |
T |
C |
X: 162,936,110 (GRCm39) |
S84P |
probably benign |
Het |
Adgb |
A |
C |
10: 10,281,050 (GRCm39) |
N656K |
probably damaging |
Het |
Ago3 |
G |
T |
4: 126,257,545 (GRCm39) |
Y495* |
probably null |
Het |
Ahnak |
G |
A |
19: 8,982,219 (GRCm39) |
V1168M |
possibly damaging |
Het |
Armc10 |
A |
G |
5: 21,866,548 (GRCm39) |
R271G |
probably benign |
Het |
Atp4a |
T |
G |
7: 30,419,373 (GRCm39) |
|
probably benign |
Het |
Casp1 |
C |
T |
9: 5,304,324 (GRCm39) |
P333S |
probably damaging |
Het |
Ceacam9 |
C |
T |
7: 16,457,574 (GRCm39) |
A34V |
probably benign |
Het |
Ces1b |
C |
G |
8: 93,784,042 (GRCm39) |
E488Q |
probably damaging |
Het |
Ces2h |
A |
T |
8: 105,741,271 (GRCm39) |
T88S |
possibly damaging |
Het |
Cfap410 |
G |
A |
10: 77,817,450 (GRCm39) |
R59H |
probably benign |
Het |
Col2a1 |
C |
T |
15: 97,874,057 (GRCm39) |
G1375D |
unknown |
Het |
Cyp1a1 |
T |
C |
9: 57,609,893 (GRCm39) |
F436L |
probably damaging |
Het |
Dcaf7 |
T |
C |
11: 105,944,624 (GRCm39) |
V269A |
probably damaging |
Het |
Disp2 |
T |
C |
2: 118,621,044 (GRCm39) |
L592P |
probably damaging |
Het |
Eda2r |
T |
A |
X: 96,385,239 (GRCm39) |
Q171L |
probably damaging |
Het |
Egln2 |
A |
G |
7: 26,858,618 (GRCm39) |
V408A |
probably benign |
Het |
Gabpb2 |
A |
G |
3: 95,096,252 (GRCm39) |
L325P |
probably damaging |
Het |
Gigyf1 |
C |
A |
5: 137,523,477 (GRCm39) |
Y936* |
probably null |
Het |
Gm14149 |
A |
T |
2: 151,072,684 (GRCm39) |
|
noncoding transcript |
Het |
Gnl2 |
C |
T |
4: 124,934,790 (GRCm39) |
Q149* |
probably null |
Het |
Gpr107 |
C |
T |
2: 31,104,261 (GRCm39) |
T522M |
probably damaging |
Het |
Grpr |
T |
A |
X: 162,297,992 (GRCm39) |
S351C |
probably damaging |
Het |
Gsdma |
T |
C |
11: 98,563,907 (GRCm39) |
L287P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,301,993 (GRCm39) |
T652A |
probably damaging |
Het |
Ifi204 |
C |
A |
1: 173,587,927 (GRCm39) |
|
probably benign |
Het |
Irx2 |
T |
C |
13: 72,779,417 (GRCm39) |
S234P |
probably damaging |
Het |
Itgal |
T |
A |
7: 126,921,725 (GRCm39) |
D808E |
probably damaging |
Het |
Krt13 |
C |
A |
11: 100,010,189 (GRCm39) |
R264L |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,839,071 (GRCm39) |
L38I |
probably benign |
Het |
Megf9 |
T |
C |
4: 70,367,004 (GRCm39) |
H326R |
probably damaging |
Het |
Mif4gd |
G |
T |
11: 115,499,163 (GRCm39) |
|
probably benign |
Het |
Mroh9 |
A |
T |
1: 162,893,593 (GRCm39) |
M194K |
probably damaging |
Het |
Nhlrc3 |
A |
G |
3: 53,370,501 (GRCm39) |
S22P |
probably damaging |
Het |
Nipal2 |
A |
T |
15: 34,577,714 (GRCm39) |
|
probably null |
Het |
Nr1h4 |
A |
G |
10: 89,334,115 (GRCm39) |
S78P |
probably benign |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Olfr908 |
A |
T |
9: 38,427,852 (GRCm39) |
N175Y |
probably damaging |
Het |
Or1e30 |
A |
T |
11: 73,678,337 (GRCm39) |
D191V |
probably damaging |
Het |
Or52d13 |
C |
T |
7: 103,109,695 (GRCm39) |
R235Q |
probably benign |
Het |
Pdzd2 |
A |
G |
15: 12,385,797 (GRCm39) |
V991A |
probably benign |
Het |
Plch1 |
G |
T |
3: 63,611,598 (GRCm39) |
A859E |
probably damaging |
Het |
Pramel32 |
T |
C |
4: 88,548,202 (GRCm39) |
T68A |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,289,244 (GRCm39) |
K84R |
possibly damaging |
Het |
Rbm14 |
T |
C |
19: 4,861,463 (GRCm39) |
Y25C |
probably damaging |
Het |
Rmi2 |
A |
G |
16: 10,653,186 (GRCm39) |
D78G |
probably damaging |
Het |
Serpina3k |
C |
A |
12: 104,311,532 (GRCm39) |
T370K |
probably damaging |
Het |
Shc2 |
A |
T |
10: 79,457,003 (GRCm39) |
L538M |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,878,674 (GRCm39) |
K202R |
probably damaging |
Het |
Slc22a29 |
C |
A |
19: 8,195,664 (GRCm39) |
S125I |
possibly damaging |
Het |
Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
A |
T |
1: 96,768,970 (GRCm39) |
D297E |
probably benign |
Het |
Slco6d1 |
T |
C |
1: 98,350,928 (GRCm39) |
F136S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,812,174 (GRCm39) |
V39E |
probably benign |
Het |
Spns1 |
G |
T |
7: 125,973,474 (GRCm39) |
|
probably benign |
Het |
Spsb1 |
A |
G |
4: 149,990,867 (GRCm39) |
|
probably null |
Het |
Sspo |
T |
G |
6: 48,431,010 (GRCm39) |
I631S |
possibly damaging |
Het |
Syne2 |
T |
C |
12: 76,078,147 (GRCm39) |
L4694P |
probably damaging |
Het |
Taf5l |
T |
C |
8: 124,724,844 (GRCm39) |
E325G |
probably benign |
Het |
Tars1 |
A |
T |
15: 11,394,350 (GRCm39) |
S96T |
probably damaging |
Het |
Tdrd12 |
T |
C |
7: 35,184,679 (GRCm39) |
K745E |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,746,761 (GRCm39) |
Y1015H |
probably damaging |
Het |
Trpv3 |
T |
A |
11: 73,186,240 (GRCm39) |
M677K |
probably damaging |
Het |
Txlnb |
A |
T |
10: 17,691,024 (GRCm39) |
K191N |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,756,494 (GRCm39) |
V711A |
probably benign |
Het |
Uqcrb |
T |
C |
13: 67,049,603 (GRCm39) |
T41A |
probably benign |
Het |
Usp6nl |
A |
G |
2: 6,445,973 (GRCm39) |
Y627C |
probably damaging |
Het |
Vezf1 |
A |
G |
11: 87,965,493 (GRCm39) |
D245G |
probably damaging |
Het |
Vmn2r66 |
A |
G |
7: 84,661,204 (GRCm39) |
W9R |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
Wrn |
A |
T |
8: 33,826,019 (GRCm39) |
|
probably null |
Het |
Zfy1 |
T |
G |
Y: 729,626 (GRCm39) |
T339P |
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 |
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'- TTTGCTATCTGAGACATGGAAGAAGG -3'
(R):5'- CCAAACACAGCATGGTTAGC -3'
Sequencing Primer
(F):5'- CAGAGACAGTGAGACAGAATATTACC -3'
(R):5'- ACACAGCATGGTTAGCTCATCTG -3'
|
Posted On |
2016-06-30 |