Incidental Mutation 'IGL01863:Pex1'
ID | 178419 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pex1
|
Ensembl Gene |
ENSMUSG00000005907 |
Gene Name | peroxisomal biogenesis factor 1 |
Synonyms | peroxisome biogenesis factor 1, ZWS1 |
Accession Numbers |
Genbank: NM_027777
|
Is this an essential gene? |
Possibly essential (E-score: 0.564)
|
Stock # | IGL01863
|
Quality Score | |
Status |
|
Chromosome | 5 |
Chromosomal Location | 3596066-3637232 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 3606066 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 298
(T298A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
AA Change: T298A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: T298A
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: T298A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: T298A
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 |
|
Coding Region Coverage |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
A |
10: 42,339,911 |
I326F |
possibly damaging |
Het |
Aimp1 |
T |
C |
3: 132,672,092 |
T171A |
probably benign |
Het |
Armc4 |
T |
C |
18: 7,222,617 |
T551A |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,985,506 |
L1564* |
probably null |
Het |
Atp1a1 |
G |
T |
3: 101,591,889 |
Y131* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,394,022 |
E2686G |
probably benign |
Het |
Cyp4f18 |
A |
G |
8: 71,989,926 |
V395A |
possibly damaging |
Het |
Ephb2 |
T |
C |
4: 136,659,777 |
Q713R |
probably benign |
Het |
Esf1 |
A |
T |
2: 140,120,679 |
M824K |
probably benign |
Het |
Fam46c |
C |
T |
3: 100,472,664 |
D259N |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,970,619 |
|
probably benign |
Het |
Gem |
A |
G |
4: 11,705,980 |
I23V |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 |
Y194F |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,022,771 |
W41G |
probably benign |
Het |
Il6st |
A |
G |
13: 112,504,210 |
E779G |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,419,936 |
|
probably benign |
Het |
Lipi |
A |
C |
16: 75,550,226 |
I435R |
probably damaging |
Het |
Lrrc6 |
A |
T |
15: 66,396,974 |
|
probably benign |
Het |
Olfr291 |
T |
C |
7: 84,856,411 |
L14P |
probably damaging |
Het |
Omg |
C |
T |
11: 79,502,224 |
M269I |
probably benign |
Het |
Optn |
A |
T |
2: 5,021,487 |
|
probably benign |
Het |
Rab27b |
T |
A |
18: 69,989,554 |
R111S |
probably damaging |
Het |
Rhbdf1 |
T |
G |
11: 32,213,484 |
E329D |
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,516,492 |
I176V |
probably benign |
Het |
Slc30a1 |
T |
A |
1: 191,909,084 |
C281S |
probably damaging |
Het |
Slc4a7 |
T |
A |
14: 14,762,430 |
C509S |
probably damaging |
Het |
Slfn9 |
T |
C |
11: 82,981,325 |
R862G |
probably benign |
Het |
Tbc1d2 |
A |
G |
4: 46,607,064 |
I782T |
possibly damaging |
Het |
Vmn2r-ps159 |
C |
T |
4: 156,338,254 |
|
noncoding transcript |
Het |
Vps33b |
T |
C |
7: 80,274,311 |
|
probably null |
Het |
Wrap73 |
A |
G |
4: 154,145,333 |
I54V |
probably benign |
Het |
|
Other mutations in Pex1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01287:Pex1
|
APN |
5 |
3606027 |
missense |
probably benign |
0.00 |
IGL01315:Pex1
|
APN |
5 |
3609975 |
missense |
probably damaging |
1.00 |
IGL01671:Pex1
|
APN |
5 |
3624088 |
missense |
probably benign |
0.00 |
IGL01933:Pex1
|
APN |
5 |
3633789 |
missense |
probably damaging |
1.00 |
IGL01960:Pex1
|
APN |
5 |
3627588 |
unclassified |
probably benign |
|
IGL02347:Pex1
|
APN |
5 |
3603350 |
missense |
probably damaging |
0.98 |
IGL02374:Pex1
|
APN |
5 |
3635481 |
missense |
probably benign |
0.01 |
IGL02392:Pex1
|
APN |
5 |
3605952 |
nonsense |
probably null |
|
IGL02597:Pex1
|
APN |
5 |
3635865 |
missense |
possibly damaging |
0.50 |
IGL02703:Pex1
|
APN |
5 |
3615120 |
missense |
probably benign |
0.24 |
IGL02815:Pex1
|
APN |
5 |
3636797 |
missense |
probably damaging |
0.97 |
IGL02862:Pex1
|
APN |
5 |
3605424 |
intron |
probably benign |
|
IGL03005:Pex1
|
APN |
5 |
3630292 |
missense |
probably null |
0.96 |
E0370:Pex1
|
UTSW |
5 |
3631614 |
splice site |
probably null |
|
F5493:Pex1
|
UTSW |
5 |
3635912 |
critical splice donor site |
probably null |
|
R0014:Pex1
|
UTSW |
5 |
3626141 |
unclassified |
probably benign |
|
R0014:Pex1
|
UTSW |
5 |
3626141 |
unclassified |
probably benign |
|
R0401:Pex1
|
UTSW |
5 |
3633759 |
missense |
probably damaging |
1.00 |
R0480:Pex1
|
UTSW |
5 |
3606444 |
splice site |
probably null |
|
R0555:Pex1
|
UTSW |
5 |
3606130 |
missense |
possibly damaging |
0.89 |
R0976:Pex1
|
UTSW |
5 |
3633943 |
missense |
probably benign |
0.00 |
R1200:Pex1
|
UTSW |
5 |
3606411 |
critical splice donor site |
probably null |
|
R1672:Pex1
|
UTSW |
5 |
3626085 |
missense |
probably damaging |
1.00 |
R1753:Pex1
|
UTSW |
5 |
3630044 |
missense |
probably damaging |
1.00 |
R1880:Pex1
|
UTSW |
5 |
3605770 |
missense |
probably benign |
|
R1953:Pex1
|
UTSW |
5 |
3630038 |
missense |
probably damaging |
1.00 |
R2054:Pex1
|
UTSW |
5 |
3603341 |
missense |
possibly damaging |
0.78 |
R2081:Pex1
|
UTSW |
5 |
3624132 |
critical splice donor site |
probably null |
|
R2237:Pex1
|
UTSW |
5 |
3618915 |
critical splice donor site |
probably null |
|
R3946:Pex1
|
UTSW |
5 |
3626084 |
missense |
probably damaging |
1.00 |
R4528:Pex1
|
UTSW |
5 |
3631712 |
missense |
probably damaging |
1.00 |
R4579:Pex1
|
UTSW |
5 |
3618880 |
missense |
probably benign |
0.03 |
R4585:Pex1
|
UTSW |
5 |
3633885 |
missense |
probably damaging |
1.00 |
R4586:Pex1
|
UTSW |
5 |
3633885 |
missense |
probably damaging |
1.00 |
R4656:Pex1
|
UTSW |
5 |
3604880 |
critical splice donor site |
probably null |
|
R4789:Pex1
|
UTSW |
5 |
3630270 |
missense |
probably damaging |
0.98 |
R4850:Pex1
|
UTSW |
5 |
3624426 |
missense |
probably benign |
|
R4963:Pex1
|
UTSW |
5 |
3609924 |
missense |
probably benign |
0.01 |
R5005:Pex1
|
UTSW |
5 |
3622310 |
missense |
probably damaging |
1.00 |
R5015:Pex1
|
UTSW |
5 |
3620597 |
missense |
probably damaging |
1.00 |
R5019:Pex1
|
UTSW |
5 |
3622331 |
missense |
probably damaging |
1.00 |
R5937:Pex1
|
UTSW |
5 |
3624487 |
missense |
possibly damaging |
0.94 |
R5942:Pex1
|
UTSW |
5 |
3610277 |
missense |
probably benign |
0.04 |
R5995:Pex1
|
UTSW |
5 |
3607704 |
missense |
possibly damaging |
0.53 |
R6434:Pex1
|
UTSW |
5 |
3630196 |
nonsense |
probably null |
|
R6552:Pex1
|
UTSW |
5 |
3623953 |
missense |
probably damaging |
1.00 |
R6777:Pex1
|
UTSW |
5 |
3622358 |
missense |
probably benign |
0.01 |
R6877:Pex1
|
UTSW |
5 |
3635505 |
missense |
probably benign |
0.19 |
R6948:Pex1
|
UTSW |
5 |
3605994 |
missense |
probably benign |
0.00 |
R7317:Pex1
|
UTSW |
5 |
3618875 |
missense |
probably damaging |
1.00 |
R7408:Pex1
|
UTSW |
5 |
3630222 |
missense |
probably damaging |
1.00 |
R7658:Pex1
|
UTSW |
5 |
3596244 |
unclassified |
probably benign |
|
R8062:Pex1
|
UTSW |
5 |
3605656 |
missense |
probably benign |
|
R8366:Pex1
|
UTSW |
5 |
3626007 |
missense |
probably benign |
0.00 |
X0019:Pex1
|
UTSW |
5 |
3605653 |
missense |
probably damaging |
1.00 |
X0027:Pex1
|
UTSW |
5 |
3630270 |
missense |
probably damaging |
0.98 |
Z1088:Pex1
|
UTSW |
5 |
3606075 |
missense |
probably benign |
0.06 |
|
Posted On | 2014-05-07 |