Incidental Mutation 'R8354:Pex1'
ID |
660587 |
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 |
067806-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R8354 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3681707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1051
(L1051Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000140871]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006061
AA Change: L1011Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: L1011Q
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: L1051Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: L1051Q
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: ENSMUST00000140871
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
99% (70/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
A |
T |
2: 150,676,297 (GRCm39) |
S353R |
probably damaging |
Het |
Ap1ar |
T |
C |
3: 127,606,428 (GRCm39) |
|
probably null |
Het |
Asxl1 |
C |
A |
2: 153,235,345 (GRCm39) |
N213K |
probably benign |
Het |
Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
Cacna2d2 |
G |
A |
9: 107,401,334 (GRCm39) |
E706K |
possibly damaging |
Het |
Cfap46 |
C |
T |
7: 139,233,414 (GRCm39) |
V296I |
probably benign |
Het |
Cldn5 |
A |
G |
16: 18,596,043 (GRCm39) |
T100A |
probably benign |
Het |
Ctnna1 |
C |
A |
18: 35,385,776 (GRCm39) |
N802K |
possibly damaging |
Het |
Dennd2b |
G |
A |
7: 109,124,755 (GRCm39) |
R675* |
probably null |
Het |
Dip2c |
A |
G |
13: 9,671,918 (GRCm39) |
T968A |
probably benign |
Het |
Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
T |
17: 30,862,234 (GRCm39) |
D203V |
probably benign |
Het |
Dnajc13 |
A |
G |
9: 104,094,927 (GRCm39) |
M585T |
probably damaging |
Het |
Donson |
G |
T |
16: 91,480,685 (GRCm39) |
T262K |
possibly damaging |
Het |
E2f3 |
T |
A |
13: 30,169,787 (GRCm39) |
|
probably benign |
Het |
Fam110c |
A |
G |
12: 31,125,178 (GRCm39) |
E380G |
possibly damaging |
Het |
Gbp9 |
T |
G |
5: 105,242,027 (GRCm39) |
T177P |
probably damaging |
Het |
Gins3 |
C |
T |
8: 96,364,646 (GRCm39) |
A132V |
probably benign |
Het |
Glra3 |
T |
A |
8: 56,578,345 (GRCm39) |
Y467* |
probably null |
Het |
Gm7138 |
A |
G |
10: 77,612,444 (GRCm39) |
|
probably benign |
Het |
Golim4 |
T |
C |
3: 75,802,308 (GRCm39) |
E328G |
probably damaging |
Het |
Habp2 |
T |
A |
19: 56,301,388 (GRCm39) |
C270* |
probably null |
Het |
Hecw2 |
A |
G |
1: 53,964,467 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
A |
T |
1: 150,634,142 (GRCm39) |
Y815N |
possibly damaging |
Het |
Igfn1 |
A |
T |
1: 135,887,619 (GRCm39) |
C2482S |
possibly damaging |
Het |
Igkv4-71 |
A |
G |
6: 69,220,260 (GRCm39) |
V57A |
probably damaging |
Het |
Itpkb |
G |
A |
1: 180,160,908 (GRCm39) |
E345K |
possibly damaging |
Het |
Itpr3 |
G |
A |
17: 27,334,893 (GRCm39) |
V2136M |
possibly damaging |
Het |
Kcnh3 |
A |
G |
15: 99,127,211 (GRCm39) |
T336A |
probably damaging |
Het |
Kdm4d |
T |
C |
9: 14,375,235 (GRCm39) |
T208A |
possibly damaging |
Het |
Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
Krt10 |
A |
G |
11: 99,280,086 (GRCm39) |
|
probably benign |
Het |
Lgals3bp |
T |
A |
11: 118,289,367 (GRCm39) |
N28I |
probably damaging |
Het |
Matn2 |
T |
C |
15: 34,378,843 (GRCm39) |
L293P |
probably damaging |
Het |
Mical3 |
T |
C |
6: 120,950,381 (GRCm39) |
E1010G |
probably damaging |
Het |
Mpp4 |
C |
A |
1: 59,169,224 (GRCm39) |
R380L |
probably damaging |
Het |
Msh5 |
A |
G |
17: 35,250,742 (GRCm39) |
F469L |
possibly damaging |
Het |
Ncam2 |
A |
G |
16: 81,309,847 (GRCm39) |
T446A |
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,800,062 (GRCm39) |
D1050G |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,509,793 (GRCm39) |
Y714H |
possibly damaging |
Het |
Or5d43 |
T |
C |
2: 88,105,036 (GRCm39) |
D119G |
probably damaging |
Het |
Or8c17 |
T |
C |
9: 38,180,513 (GRCm39) |
S235P |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,488,357 (GRCm39) |
E1729G |
probably damaging |
Het |
Peg10 |
GCACATCAGGATCC |
GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Prkag2 |
T |
A |
5: 25,074,137 (GRCm39) |
R283* |
probably null |
Het |
Prrc1 |
T |
A |
18: 57,504,503 (GRCm39) |
M238K |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,300,061 (GRCm39) |
T247A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 22,999,614 (GRCm39) |
Y568C |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,884,291 (GRCm39) |
A114T |
probably damaging |
Het |
Rfx7 |
T |
C |
9: 72,526,731 (GRCm39) |
V1307A |
probably benign |
Het |
Scaf1 |
A |
C |
7: 44,657,251 (GRCm39) |
|
probably benign |
Het |
Sema4g |
A |
T |
19: 44,986,866 (GRCm39) |
T440S |
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,900,598 (GRCm39) |
V1023E |
probably damaging |
Het |
Slc46a2 |
T |
C |
4: 59,913,931 (GRCm39) |
I331V |
possibly damaging |
Het |
Slc4a7 |
C |
T |
14: 14,786,313 (GRCm38) |
R1000C |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,222,753 (GRCm39) |
H162R |
probably benign |
Het |
Spata31f1e |
T |
A |
4: 42,793,223 (GRCm39) |
H303L |
probably benign |
Het |
Strip2 |
G |
A |
6: 29,920,531 (GRCm39) |
|
probably null |
Het |
Stx2 |
T |
A |
5: 129,071,932 (GRCm39) |
I42L |
probably benign |
Het |
Tas2r124 |
A |
T |
6: 132,732,410 (GRCm39) |
T240S |
probably benign |
Het |
Tgfbrap1 |
A |
T |
1: 43,115,070 (GRCm39) |
V10D |
probably damaging |
Het |
Tmem41a |
T |
A |
16: 21,766,181 (GRCm39) |
Y19F |
probably benign |
Het |
Tmprss5 |
A |
G |
9: 49,018,439 (GRCm39) |
T74A |
possibly damaging |
Het |
Trim16 |
G |
T |
11: 62,727,587 (GRCm39) |
R216L |
probably benign |
Het |
Trmt10c |
T |
C |
16: 55,854,870 (GRCm39) |
K255R |
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,769,483 (GRCm39) |
V747E |
probably damaging |
Het |
Ube2v2 |
T |
C |
16: 15,399,005 (GRCm39) |
D28G |
possibly damaging |
Het |
Uty |
G |
A |
Y: 1,157,928 (GRCm39) |
T705I |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 78,984,710 (GRCm39) |
I21F |
probably benign |
Het |
Wdr11 |
T |
C |
7: 129,204,723 (GRCm39) |
L176S |
probably damaging |
Het |
Zfp992 |
A |
G |
4: 146,551,319 (GRCm39) |
T347A |
probably benign |
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 |
|
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 |
|
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'- AGTCCAGACTGCTTGGAAAG -3'
(R):5'- GAATTCTCTGCAAATCCCACATTC -3'
Sequencing Primer
(F):5'- AGCTTAGCTTGTTAGACGTGTCAG -3'
(R):5'- TCCCACATTCCAATTTTAGGCAAG -3'
|
Posted On |
2021-01-18 |