Incidental Mutation 'R9655:Pex1'
ID |
735447 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R9655 (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 A
at 3655653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 160
(L160Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006061
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
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 damaging
Transcript: ENSMUST00000006061
AA Change: L160Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: L160Q
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: L160Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: L160Q
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: ENSMUST00000142516
|
SMART Domains |
Protein: ENSMUSP00000116474 Gene: ENSMUSG00000005907
Domain | Start | End | E-Value | Type |
PDB:1WLF|A
|
1 |
21 |
5e-8 |
PDB |
|
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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
T |
A |
7: 130,740,695 (GRCm39) |
I174F |
possibly damaging |
Het |
Ada |
C |
A |
2: 163,574,270 (GRCm39) |
V129F |
probably damaging |
Het |
Adgrl4 |
G |
T |
3: 151,248,450 (GRCm39) |
M707I |
probably damaging |
Het |
Ahcyl |
A |
T |
16: 45,974,564 (GRCm39) |
I271N |
probably damaging |
Het |
Arrb2 |
A |
G |
11: 70,331,073 (GRCm39) |
Q419R |
probably null |
Het |
Atad2 |
A |
T |
15: 57,998,303 (GRCm39) |
L23Q |
probably damaging |
Het |
Btbd2 |
A |
T |
10: 80,492,045 (GRCm39) |
F107Y |
probably benign |
Het |
C7 |
T |
A |
15: 5,041,464 (GRCm39) |
T481S |
probably damaging |
Het |
Capn10 |
T |
A |
1: 92,867,111 (GRCm39) |
W114R |
probably damaging |
Het |
Ccdc121 |
C |
T |
5: 31,644,976 (GRCm39) |
T243I |
probably benign |
Het |
Cdc16 |
T |
A |
8: 13,809,153 (GRCm39) |
D39E |
possibly damaging |
Het |
Cfap74 |
A |
T |
4: 155,522,665 (GRCm39) |
I684F |
|
Het |
Cyp2c70 |
T |
A |
19: 40,149,121 (GRCm39) |
N342Y |
possibly damaging |
Het |
Dnah17 |
G |
A |
11: 117,971,649 (GRCm39) |
T2128I |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,242,900 (GRCm39) |
N545S |
probably benign |
Het |
Dnmt3c |
A |
G |
2: 153,561,914 (GRCm39) |
N539S |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,958,964 (GRCm39) |
E656G |
possibly damaging |
Het |
Exd1 |
A |
T |
2: 119,350,855 (GRCm39) |
C469S |
probably damaging |
Het |
F5 |
A |
T |
1: 164,021,730 (GRCm39) |
I1402F |
probably benign |
Het |
Fam186a |
A |
G |
15: 99,840,973 (GRCm39) |
L1757P |
probably damaging |
Het |
Fbxo42 |
A |
T |
4: 140,895,171 (GRCm39) |
R45W |
probably damaging |
Het |
Fer1l5 |
T |
C |
1: 36,460,696 (GRCm39) |
V1978A |
probably benign |
Het |
Fpr1 |
T |
A |
17: 18,097,618 (GRCm39) |
I124F |
probably damaging |
Het |
Fry |
A |
T |
5: 150,362,251 (GRCm39) |
D2173V |
possibly damaging |
Het |
Gabbr2 |
G |
T |
4: 46,815,684 (GRCm39) |
T228K |
possibly damaging |
Het |
Galnt9 |
A |
T |
5: 110,762,104 (GRCm39) |
Y414F |
probably damaging |
Het |
Gask1a |
T |
A |
9: 121,794,170 (GRCm39) |
L108Q |
probably benign |
Het |
Ggt5 |
A |
T |
10: 75,444,635 (GRCm39) |
M318L |
probably benign |
Het |
Glod4 |
A |
C |
11: 76,125,292 (GRCm39) |
S156A |
probably benign |
Het |
Gm5431 |
A |
T |
11: 48,785,799 (GRCm39) |
M192K |
probably benign |
Het |
Golga5 |
C |
T |
12: 102,446,008 (GRCm39) |
S421L |
possibly damaging |
Het |
Gpr18 |
T |
C |
14: 122,149,992 (GRCm39) |
D11G |
probably benign |
Het |
Igf2bp3 |
C |
T |
6: 49,064,338 (GRCm39) |
V560I |
probably benign |
Het |
Igfals |
A |
G |
17: 25,099,665 (GRCm39) |
N252S |
probably damaging |
Het |
Ighv8-5 |
C |
T |
12: 115,031,416 (GRCm39) |
C41Y |
probably damaging |
Het |
Iqgap3 |
T |
A |
3: 88,016,728 (GRCm39) |
V1070D |
possibly damaging |
Het |
Kdr |
G |
A |
5: 76,122,488 (GRCm39) |
A479V |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,047,295 (GRCm39) |
L247P |
probably damaging |
Het |
Kmt5a |
A |
G |
5: 124,589,393 (GRCm39) |
Y197C |
probably damaging |
Het |
Krt33a |
A |
C |
11: 99,906,624 (GRCm39) |
|
probably null |
Het |
Mageb3 |
A |
G |
2: 121,785,649 (GRCm39) |
S18P |
unknown |
Het |
Mast1 |
T |
A |
8: 85,650,660 (GRCm39) |
Y387F |
probably damaging |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Med17 |
C |
T |
9: 15,176,719 (GRCm39) |
V503M |
possibly damaging |
Het |
Mpp3 |
A |
G |
11: 101,899,481 (GRCm39) |
C347R |
probably benign |
Het |
Mtr |
A |
G |
13: 12,203,030 (GRCm39) |
L1191P |
probably damaging |
Het |
Mybphl |
A |
T |
3: 108,282,099 (GRCm39) |
I110F |
probably damaging |
Het |
Nkx2-1 |
T |
A |
12: 56,581,802 (GRCm39) |
D15V |
probably damaging |
Het |
Nwd2 |
G |
A |
5: 63,964,568 (GRCm39) |
W1384* |
probably null |
Het |
Onecut1 |
A |
G |
9: 74,770,330 (GRCm39) |
H251R |
possibly damaging |
Het |
Or10ak8 |
T |
A |
4: 118,773,804 (GRCm39) |
N287Y |
probably damaging |
Het |
Or13f5 |
C |
T |
4: 52,825,526 (GRCm39) |
T43I |
probably benign |
Het |
Or51a6 |
A |
G |
7: 102,604,319 (GRCm39) |
F163S |
probably damaging |
Het |
Or8b37 |
A |
T |
9: 37,959,387 (GRCm39) |
I290L |
probably benign |
Het |
Palmd |
T |
C |
3: 116,716,840 (GRCm39) |
*552W |
probably null |
Het |
Pcdhgb2 |
A |
G |
18: 37,823,285 (GRCm39) |
E92G |
probably damaging |
Het |
Pcdhgb5 |
G |
T |
18: 37,865,122 (GRCm39) |
E306* |
probably null |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Phxr2 |
A |
T |
10: 98,961,974 (GRCm39) |
S29T |
unknown |
Het |
Ppargc1a |
A |
G |
5: 51,705,852 (GRCm39) |
|
probably null |
Het |
Psmb11 |
T |
C |
14: 54,862,965 (GRCm39) |
V61A |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,908,983 (GRCm39) |
I1034F |
possibly damaging |
Het |
Rnaset2b |
T |
A |
17: 7,259,134 (GRCm39) |
N133K |
probably damaging |
Het |
Rtn4 |
A |
G |
11: 29,657,504 (GRCm39) |
T553A |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,373,578 (GRCm39) |
T1228S |
probably benign |
Het |
Sdr42e2 |
A |
G |
7: 120,430,279 (GRCm39) |
T379A |
probably benign |
Het |
Shisal2a |
C |
A |
4: 108,234,616 (GRCm39) |
V84L |
possibly damaging |
Het |
Slc1a1 |
C |
T |
19: 28,870,283 (GRCm39) |
A94V |
probably damaging |
Het |
Snx31 |
C |
T |
15: 36,534,582 (GRCm39) |
C197Y |
probably damaging |
Het |
Tbc1d4 |
A |
G |
14: 101,744,567 (GRCm39) |
V353A |
probably damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,059,610 (GRCm39) |
D1004G |
possibly damaging |
Het |
Tex15 |
T |
A |
8: 34,066,784 (GRCm39) |
Y2071* |
probably null |
Het |
Tnni3k |
G |
A |
3: 154,645,410 (GRCm39) |
R492* |
probably null |
Het |
Tns2 |
A |
G |
15: 102,012,933 (GRCm39) |
H7R |
probably benign |
Het |
Top2a |
G |
T |
11: 98,905,334 (GRCm39) |
N369K |
probably damaging |
Het |
Tpbg |
A |
T |
9: 85,726,252 (GRCm39) |
T74S |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,869,466 (GRCm39) |
N2018D |
probably benign |
Het |
Trub2 |
A |
T |
2: 29,669,833 (GRCm39) |
|
probably null |
Het |
Vps13d |
A |
G |
4: 144,813,305 (GRCm39) |
F3324L |
|
Het |
Wdr20rt |
A |
T |
12: 65,273,707 (GRCm39) |
Q390L |
probably benign |
Het |
Wdr49 |
T |
A |
3: 75,240,561 (GRCm39) |
D436V |
probably damaging |
Het |
Zfp111 |
C |
T |
7: 23,898,543 (GRCm39) |
G357D |
probably damaging |
Het |
Zfp668 |
A |
G |
7: 127,466,113 (GRCm39) |
V357A |
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 |
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 |
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'- ACGCCATTTCCCTTGAACAGC -3'
(R):5'- TGAGTTCGTATGAAGCTGCC -3'
Sequencing Primer
(F):5'- GAACAGCATCTTCTGGATCAGATTCG -3'
(R):5'- AAGCTGCCTGGTTTGTAATTCC -3'
|
Posted On |
2022-11-14 |