Incidental Mutation 'R6552:Pex1'
ID |
521678 |
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 |
044677-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R6552 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 3673953 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 748
(E748K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000143132]
[ENSMUST00000195894]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006061
AA Change: E708K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: E708K
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 damaging
Transcript: ENSMUST00000121291
AA Change: E748K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: E748K
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: 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: ENSMUST00000143132
|
SMART Domains |
Protein: ENSMUSP00000116645 Gene: ENSMUSG00000005907
Domain | Start | End | E-Value | Type |
Blast:AAA
|
1 |
68 |
7e-31 |
BLAST |
|
Predicted Effect |
silent
Transcript: ENSMUST00000195894
|
SMART Domains |
Protein: ENSMUSP00000142620 Gene: ENSMUSG00000005907
Domain | Start | End | E-Value | Type |
Pfam:PEX-2N
|
14 |
99 |
2.5e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199035
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199650
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang5 |
A |
T |
14: 44,200,254 (GRCm39) |
H106L |
probably benign |
Het |
Arsk |
A |
G |
13: 76,220,315 (GRCm39) |
Y260H |
probably damaging |
Het |
Atxn2l |
C |
T |
7: 126,092,993 (GRCm39) |
V833M |
possibly damaging |
Het |
Bpifa6 |
G |
A |
2: 153,829,078 (GRCm39) |
D202N |
probably damaging |
Het |
Ccdc103 |
A |
G |
11: 102,774,970 (GRCm39) |
S190G |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,576,112 (GRCm39) |
V2083I |
probably damaging |
Het |
Creb5 |
A |
G |
6: 53,662,369 (GRCm39) |
D222G |
probably damaging |
Het |
Cyp7a1 |
C |
T |
4: 6,272,361 (GRCm39) |
W284* |
probably null |
Het |
Dnmt3a |
T |
C |
12: 3,957,623 (GRCm39) |
V868A |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,729,339 (GRCm39) |
D680G |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 34,012,032 (GRCm39) |
Y163H |
probably damaging |
Het |
Gabra1 |
A |
T |
11: 42,037,926 (GRCm39) |
S231T |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,343,299 (GRCm39) |
F42I |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,541,814 (GRCm39) |
S1187N |
probably benign |
Het |
Haspin |
A |
G |
11: 73,028,390 (GRCm39) |
V233A |
probably benign |
Het |
Il34 |
T |
A |
8: 111,469,059 (GRCm39) |
K187I |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,693,165 (GRCm39) |
H247R |
probably benign |
Het |
Klf5 |
T |
C |
14: 99,539,078 (GRCm39) |
S84P |
probably benign |
Het |
Lama5 |
G |
T |
2: 179,822,947 (GRCm39) |
P2773Q |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,311 (GRCm39) |
M404V |
possibly damaging |
Het |
Lrp6 |
A |
T |
6: 134,431,692 (GRCm39) |
S1473T |
probably benign |
Het |
Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
Mn1 |
T |
C |
5: 111,568,753 (GRCm39) |
S908P |
possibly damaging |
Het |
Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
Or2ag13 |
TGAAGCC |
T |
7: 106,313,850 (GRCm39) |
|
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,429,046 (GRCm39) |
M340L |
probably benign |
Het |
Qrich1 |
T |
C |
9: 108,411,504 (GRCm39) |
V343A |
possibly damaging |
Het |
Rho |
A |
G |
6: 115,908,709 (GRCm39) |
|
probably null |
Het |
Sdhaf4 |
C |
A |
1: 24,044,687 (GRCm39) |
|
probably benign |
Het |
Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
Siae |
T |
C |
9: 37,557,696 (GRCm39) |
V501A |
possibly damaging |
Het |
Skint3 |
T |
C |
4: 112,147,482 (GRCm39) |
Y402H |
possibly damaging |
Het |
Skint6 |
A |
C |
4: 112,924,687 (GRCm39) |
V515G |
possibly damaging |
Het |
Slc23a1 |
C |
A |
18: 35,755,391 (GRCm39) |
G475C |
probably damaging |
Het |
Smad9 |
A |
G |
3: 54,690,167 (GRCm39) |
Y129C |
probably damaging |
Het |
Snw1 |
A |
G |
12: 87,506,189 (GRCm39) |
|
probably null |
Het |
Spice1 |
A |
G |
16: 44,199,396 (GRCm39) |
D616G |
possibly damaging |
Het |
Stam2 |
T |
C |
2: 52,598,239 (GRCm39) |
|
probably null |
Het |
Sumo3 |
G |
T |
10: 77,442,091 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
G |
12: 75,937,015 (GRCm39) |
N204K |
possibly damaging |
Het |
Tmem200a |
T |
C |
10: 25,869,381 (GRCm39) |
N296S |
probably damaging |
Het |
Ttbk1 |
G |
T |
17: 46,789,888 (GRCm39) |
T125N |
probably benign |
Het |
Ubr2 |
G |
T |
17: 47,277,194 (GRCm39) |
|
probably null |
Het |
Vmn1r80 |
C |
T |
7: 11,927,684 (GRCm39) |
L265F |
probably damaging |
Het |
Vwa8 |
A |
T |
14: 79,435,662 (GRCm39) |
T1791S |
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 |
|
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'- CCAGAGTGCACCATGTAGTATG -3'
(R):5'- AGGGTTTGTACACATACCTTCCC -3'
Sequencing Primer
(F):5'- GGTGCCTAGAAGTCTATACAGTCC -3'
(R):5'- TCCCTAGAGGAGCTATGCTG -3'
|
Posted On |
2018-06-06 |