Incidental Mutation 'R8812:Pex1'
| ID |
672472 |
| 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 |
068647-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.503)
|
| Stock # |
R8812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3681614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 980
(V980A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000140871]
|
| AlphaFold |
Q5BL07 |
| PDB Structure |
Structure of the N-terminal domain of PEX1 AAA-ATPase: Characterization of a putative adaptor-binding domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
AA Change: V980A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: V980A
| 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: V1020A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: V1020A
| 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: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,480,471 (GRCm39) |
P1167Q |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,463,113 (GRCm39) |
Q626R |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,378,867 (GRCm39) |
Q885H |
probably damaging |
Het |
| Alkal2 |
C |
T |
12: 30,940,055 (GRCm39) |
L139F |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,441,062 (GRCm39) |
M439K |
probably benign |
Het |
| Arl11 |
C |
A |
14: 61,548,422 (GRCm39) |
Y77* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,449,973 (GRCm39) |
Y669H |
probably benign |
Het |
| Bpifb3 |
C |
T |
2: 153,764,516 (GRCm39) |
A136V |
probably benign |
Het |
| Ccne2 |
A |
G |
4: 11,202,279 (GRCm39) |
T345A |
probably benign |
Het |
| Ciz1 |
T |
C |
2: 32,254,286 (GRCm39) |
S76P |
probably benign |
Het |
| Clip4 |
A |
T |
17: 72,107,800 (GRCm39) |
K94* |
probably null |
Het |
| Cthrc1 |
G |
A |
15: 38,947,866 (GRCm39) |
R195H |
probably damaging |
Het |
| Ddx31 |
T |
C |
2: 28,730,816 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
T |
A |
3: 51,174,188 (GRCm39) |
D113V |
possibly damaging |
Het |
| Esrrb |
A |
G |
12: 86,535,324 (GRCm39) |
N155S |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,887,624 (GRCm38) |
D478G |
probably benign |
Het |
| Galm |
T |
A |
17: 80,435,215 (GRCm39) |
L24H |
probably damaging |
Het |
| Gask1b |
T |
C |
3: 79,816,078 (GRCm39) |
S363P |
possibly damaging |
Het |
| Gon4l |
G |
A |
3: 88,802,314 (GRCm39) |
G975D |
possibly damaging |
Het |
| Hspbp1 |
T |
G |
7: 4,667,783 (GRCm39) |
M237L |
probably benign |
Het |
| Ighv1-62-1 |
A |
T |
12: 115,350,367 (GRCm39) |
M100K |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,676,575 (GRCm39) |
D971E |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,732,979 (GRCm39) |
A286V |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,578 (GRCm39) |
Q3R |
probably benign |
Het |
| Katnip |
A |
C |
7: 125,396,867 (GRCm39) |
R309S |
probably benign |
Het |
| Klrg2 |
A |
C |
6: 38,613,838 (GRCm39) |
L55R |
probably damaging |
Het |
| Lrp6 |
T |
A |
6: 134,433,141 (GRCm39) |
M1397L |
probably benign |
Het |
| Lrrc31 |
T |
A |
3: 30,733,328 (GRCm39) |
Q462L |
probably benign |
Het |
| Lyg2 |
T |
A |
1: 37,949,054 (GRCm39) |
I103F |
probably damaging |
Het |
| Map10 |
T |
C |
8: 126,396,664 (GRCm39) |
V19A |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,569,323 (GRCm39) |
M1133L |
unknown |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,481 (GRCm39) |
V40A |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,099,967 (GRCm39) |
G626R |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,687,030 (GRCm39) |
V45A |
probably benign |
Het |
| Ncdn |
A |
G |
4: 126,638,905 (GRCm39) |
F638S |
possibly damaging |
Het |
| Ncs1 |
T |
A |
2: 31,174,213 (GRCm39) |
M121K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,437,180 (GRCm39) |
V16A |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,579,317 (GRCm39) |
D1128E |
unknown |
Het |
| Nup205 |
T |
G |
6: 35,191,269 (GRCm39) |
L1000R |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,925,921 (GRCm39) |
E5604G |
probably damaging |
Het |
| Or1p4-ps1 |
T |
A |
11: 74,208,534 (GRCm39) |
S228T |
unknown |
Het |
| Or2p2 |
T |
C |
13: 21,257,220 (GRCm39) |
N84D |
probably damaging |
Het |
| Or4a68 |
A |
G |
2: 89,270,209 (GRCm39) |
V138A |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,715 (GRCm39) |
A198S |
possibly damaging |
Het |
| Or51ah3 |
G |
T |
7: 103,209,816 (GRCm39) |
C44F |
probably benign |
Het |
| Or5b96 |
A |
T |
19: 12,867,560 (GRCm39) |
V127E |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,392,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,393,251 (GRCm39) |
C207* |
probably null |
Het |
| P3h2 |
T |
A |
16: 25,801,467 (GRCm39) |
Y397F |
possibly damaging |
Het |
| Pappa |
A |
T |
4: 65,123,166 (GRCm39) |
I834F |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,140,716 (GRCm39) |
S782P |
probably benign |
Het |
| Pik3c2a |
G |
T |
7: 115,951,112 (GRCm39) |
L1258I |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,239 (GRCm39) |
*161R |
probably null |
Het |
| Ppp1r26 |
T |
A |
2: 28,341,192 (GRCm39) |
M274K |
probably benign |
Het |
| Ppp6r2 |
T |
C |
15: 89,167,275 (GRCm39) |
V830A |
probably benign |
Het |
| Pramel34 |
T |
C |
5: 93,785,660 (GRCm39) |
T207A |
possibly damaging |
Het |
| Prss1 |
T |
A |
6: 41,439,520 (GRCm39) |
N84K |
probably benign |
Het |
| Rab3il1 |
G |
A |
19: 10,004,141 (GRCm39) |
A18T |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,929,069 (GRCm39) |
S1471T |
probably damaging |
Het |
| Setdb1 |
T |
A |
3: 95,263,371 (GRCm39) |
D45V |
probably damaging |
Het |
| Sik3 |
G |
T |
9: 46,089,811 (GRCm39) |
V275L |
probably benign |
Het |
| Skint6 |
C |
A |
4: 112,846,149 (GRCm39) |
M659I |
probably benign |
Het |
| Slc24a1 |
T |
A |
9: 64,835,985 (GRCm39) |
D714V |
unknown |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
| Stradb |
A |
G |
1: 59,033,478 (GRCm39) |
I380M |
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,735,501 (GRCm39) |
Y59C |
probably benign |
Het |
| Tas2r122 |
C |
T |
6: 132,688,702 (GRCm39) |
A64T |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,074,589 (GRCm39) |
C1812Y |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Trio |
A |
T |
15: 27,905,311 (GRCm39) |
C152S |
unknown |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,123 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,436 (GRCm39) |
|
probably benign |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,630 (GRCm39) |
T121A |
possibly damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,477,669 (GRCm39) |
F241L |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,893 (GRCm39) |
L472P |
probably damaging |
Het |
| Ylpm1 |
G |
T |
12: 85,043,566 (GRCm39) |
W101C |
unknown |
Het |
| Zdbf2 |
C |
A |
1: 63,347,272 (GRCm39) |
H1884N |
probably benign |
Het |
| Zfp1005 |
T |
A |
2: 150,109,624 (GRCm39) |
C105S |
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 |
|
|
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 |
|
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'- ACCTGTGTCTCCTCTTAGGG -3'
(R):5'- GCAGTAAAGTGCTCTTTCCCTC -3'
Sequencing Primer
(F):5'- TCTTAGGGATCCCAGTCTAAGAACG -3'
(R):5'- TCAGCGACCGCCCTAATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation