Incidental Mutation 'R5015:Pex1'
ID |
455797 |
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 |
042606-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R5015 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3670597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 7
(K7E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000143132]
[ENSMUST00000195894]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006061
AA Change: K596E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: K596E
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: K636E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: K636E
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 |
unknown
Transcript: ENSMUST00000126545
AA Change: K175E
|
SMART Domains |
Protein: ENSMUSP00000121813 Gene: ENSMUSG00000005907 AA Change: K175E
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 damaging
Transcript: ENSMUST00000143132
AA Change: K7E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116645 Gene: ENSMUSG00000005907 AA Change: K7E
Domain | Start | End | E-Value | Type |
Blast:AAA
|
1 |
68 |
7e-31 |
BLAST |
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199035
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199650
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.3%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
A |
8: 41,207,671 (GRCm39) |
F312L |
probably benign |
Het |
Adprm |
A |
G |
11: 66,932,856 (GRCm39) |
F18L |
possibly damaging |
Het |
Ampd1 |
T |
G |
3: 103,006,981 (GRCm39) |
N735K |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,081,649 (GRCm39) |
M168V |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,793,600 (GRCm39) |
H116Y |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,890,383 (GRCm39) |
N338K |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,381,224 (GRCm39) |
Y697* |
probably null |
Het |
Ccdc33 |
A |
C |
9: 58,025,918 (GRCm39) |
F37C |
probably damaging |
Het |
Ccdc60 |
T |
A |
5: 116,426,507 (GRCm39) |
Q30L |
probably benign |
Het |
Cndp1 |
C |
A |
18: 84,650,036 (GRCm39) |
R219L |
probably damaging |
Het |
Cstdc4 |
T |
C |
16: 36,006,837 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,783,550 (GRCm39) |
D627Y |
probably damaging |
Het |
Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
Dnah2 |
T |
G |
11: 69,388,708 (GRCm39) |
T892P |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,043,092 (GRCm39) |
T610A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,324,926 (GRCm39) |
I430L |
possibly damaging |
Het |
Dytn |
T |
A |
1: 63,672,854 (GRCm39) |
K516N |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 52,993,773 (GRCm39) |
N389K |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,665,336 (GRCm39) |
T927I |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,989 (GRCm39) |
K127E |
probably damaging |
Het |
Fpr-rs6 |
A |
G |
17: 20,402,608 (GRCm39) |
F251S |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,672,088 (GRCm39) |
D62G |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,726,148 (GRCm39) |
V301D |
probably damaging |
Het |
Gk5 |
A |
G |
9: 96,059,470 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
A |
10: 111,914,279 (GRCm39) |
N213K |
probably benign |
Het |
Gm1110 |
A |
G |
9: 26,793,162 (GRCm39) |
F538S |
probably benign |
Het |
Gm7347 |
T |
A |
5: 26,262,366 (GRCm39) |
T52S |
probably benign |
Het |
Gsap |
T |
C |
5: 21,427,406 (GRCm39) |
I178T |
probably damaging |
Het |
H1f9 |
C |
A |
11: 94,858,928 (GRCm39) |
N74K |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 117,739,556 (GRCm39) |
Q106L |
unknown |
Het |
Isg20l2 |
G |
T |
3: 87,839,288 (GRCm39) |
L166F |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,876,612 (GRCm39) |
E510D |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,755,895 (GRCm39) |
R2003L |
probably damaging |
Het |
Kiss1r |
T |
C |
10: 79,754,641 (GRCm39) |
V45A |
probably damaging |
Het |
Krt14 |
G |
A |
11: 100,098,032 (GRCm39) |
R84* |
probably null |
Het |
Mbd5 |
T |
C |
2: 49,148,208 (GRCm39) |
M806T |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,058,847 (GRCm39) |
I13N |
possibly damaging |
Het |
Mfsd4b5 |
T |
C |
10: 39,850,758 (GRCm39) |
K73E |
probably benign |
Het |
Mterf2 |
C |
T |
10: 84,955,596 (GRCm39) |
G343R |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,368,903 (GRCm39) |
F522I |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,937,923 (GRCm39) |
E1734G |
probably damaging |
Het |
Myoz1 |
T |
C |
14: 20,703,787 (GRCm39) |
T53A |
probably benign |
Het |
Naxd |
T |
C |
8: 11,563,032 (GRCm39) |
L324P |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,005,334 (GRCm39) |
V18D |
probably damaging |
Het |
Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
Or10v5 |
T |
C |
19: 11,805,482 (GRCm39) |
R303G |
probably benign |
Het |
Or10z1 |
A |
G |
1: 174,078,448 (GRCm39) |
L15S |
possibly damaging |
Het |
Or1e29 |
C |
G |
11: 73,668,007 (GRCm39) |
V49L |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,083 (GRCm39) |
D292G |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,811 (GRCm39) |
V196A |
possibly damaging |
Het |
Otof |
T |
A |
5: 30,540,238 (GRCm39) |
Y981F |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,120,946 (GRCm39) |
S73P |
possibly damaging |
Het |
Plxnb1 |
T |
A |
9: 108,929,498 (GRCm39) |
I118N |
possibly damaging |
Het |
Prcc |
T |
C |
3: 87,779,560 (GRCm39) |
D158G |
probably damaging |
Het |
Ptpn7 |
C |
A |
1: 135,066,877 (GRCm39) |
R245S |
possibly damaging |
Het |
Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,527 (GRCm39) |
C86R |
probably benign |
Het |
Rfng |
T |
G |
11: 120,673,876 (GRCm39) |
D178A |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,580,090 (GRCm39) |
I51T |
probably damaging |
Het |
Rnasel |
G |
T |
1: 153,629,843 (GRCm39) |
E120* |
probably null |
Het |
Sall2 |
T |
G |
14: 52,553,112 (GRCm39) |
S26R |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,451,987 (GRCm39) |
V1312A |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,684,587 (GRCm39) |
R1958L |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,043 (GRCm39) |
S139F |
possibly damaging |
Het |
Slc52a2 |
T |
A |
15: 76,424,751 (GRCm39) |
C330S |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,668,788 (GRCm39) |
I987N |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,294,271 (GRCm39) |
Y486N |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,831 (GRCm39) |
N50K |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,265 (GRCm39) |
D405E |
probably benign |
Het |
Tcstv6 |
T |
A |
13: 120,298,474 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,924,739 (GRCm39) |
D986E |
probably damaging |
Het |
Tph2 |
T |
C |
10: 114,915,621 (GRCm39) |
N473S |
probably benign |
Het |
Tpp1 |
C |
T |
7: 105,401,232 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,689,076 (GRCm39) |
Y2H |
probably damaging |
Het |
Ttc21a |
A |
T |
9: 119,795,195 (GRCm39) |
E1072V |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,050,762 (GRCm39) |
D753G |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,159,051 (GRCm39) |
S609T |
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 |
|
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 |
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'- TCAGAGTAACATAGTCCTCTCTGTG -3'
(R):5'- CCATTACCATGTGCAAGCCG -3'
Sequencing Primer
(F):5'- ATACAGTTCGGCATTGTGAGTCC -3'
(R):5'- AATGACAGATGGCTGCCT -3'
|
Posted On |
2017-02-14 |