Incidental Mutation 'R0401:Pex1'
ID |
38193 |
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 |
038606-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R0401 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3683759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1085
(M1085K)
|
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: M1045K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: M1045K
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: M1085K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: M1085K
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199632
|
Meta Mutation Damage Score |
0.2737 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (90/92) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,776,067 (GRCm39) |
H1752L |
possibly damaging |
Het |
Abcc5 |
T |
C |
16: 20,195,308 (GRCm39) |
K730E |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,480 (GRCm39) |
D4588G |
probably benign |
Het |
AI467606 |
G |
A |
7: 126,691,608 (GRCm39) |
R61H |
probably damaging |
Het |
Apoa4 |
T |
A |
9: 46,154,356 (GRCm39) |
V319E |
probably damaging |
Het |
Ark2n |
C |
A |
18: 77,761,658 (GRCm39) |
S218I |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,011,525 (GRCm39) |
D1297E |
probably benign |
Het |
BC005624 |
G |
A |
2: 30,870,021 (GRCm39) |
T62I |
probably benign |
Het |
Bcl6 |
T |
C |
16: 23,791,344 (GRCm39) |
K337E |
probably damaging |
Het |
Cad |
T |
A |
5: 31,231,330 (GRCm39) |
|
probably benign |
Het |
Ccdc73 |
T |
C |
2: 104,821,634 (GRCm39) |
S528P |
probably benign |
Het |
Ccng2 |
T |
G |
5: 93,421,272 (GRCm39) |
C261G |
possibly damaging |
Het |
Cdh11 |
A |
T |
8: 103,400,638 (GRCm39) |
I110N |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,612,521 (GRCm39) |
V767A |
probably damaging |
Het |
Cit |
A |
G |
5: 116,123,538 (GRCm39) |
T1460A |
probably benign |
Het |
Clec4b2 |
C |
T |
6: 123,158,259 (GRCm39) |
Q42* |
probably null |
Het |
Clip1 |
A |
G |
5: 123,791,852 (GRCm39) |
V106A |
probably damaging |
Het |
Crb1 |
T |
C |
1: 139,126,529 (GRCm39) |
|
probably benign |
Het |
Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
Cul9 |
T |
C |
17: 46,852,630 (GRCm39) |
E244G |
probably damaging |
Het |
Dcaf8l |
C |
A |
X: 88,448,815 (GRCm39) |
R438L |
probably benign |
Het |
Ddx55 |
A |
T |
5: 124,706,014 (GRCm39) |
I480F |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,604,974 (GRCm39) |
S17P |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,926,117 (GRCm39) |
Y1235* |
probably null |
Het |
Dsg2 |
G |
T |
18: 20,725,565 (GRCm39) |
|
probably benign |
Het |
E2f5 |
T |
C |
3: 14,644,085 (GRCm39) |
|
probably null |
Het |
Epc2 |
A |
G |
2: 49,418,986 (GRCm39) |
T265A |
probably damaging |
Het |
Etaa1 |
T |
G |
11: 17,897,514 (GRCm39) |
D201A |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,525,304 (GRCm39) |
I260T |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,351,931 (GRCm39) |
A1098V |
probably benign |
Het |
Gpd2 |
G |
A |
2: 57,230,105 (GRCm39) |
V286I |
possibly damaging |
Het |
Gpr141b |
A |
T |
13: 19,913,664 (GRCm39) |
|
noncoding transcript |
Het |
H2-T9 |
C |
T |
17: 36,439,597 (GRCm39) |
V128M |
probably damaging |
Het |
Herc2 |
A |
C |
7: 55,807,480 (GRCm39) |
E2523A |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,476,104 (GRCm39) |
P757S |
probably benign |
Het |
Jmjd1c |
G |
A |
10: 67,056,161 (GRCm39) |
R527H |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,087,762 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,309,492 (GRCm39) |
N2802K |
probably damaging |
Het |
Mab21l2 |
C |
G |
3: 86,454,296 (GRCm39) |
G235R |
probably benign |
Het |
Mapk8 |
T |
C |
14: 33,104,165 (GRCm39) |
E417G |
probably benign |
Het |
Mapk8ip3 |
G |
A |
17: 25,128,145 (GRCm39) |
|
probably benign |
Het |
Mettl1 |
A |
G |
10: 126,880,946 (GRCm39) |
T203A |
probably benign |
Het |
Mettl9 |
T |
C |
7: 120,675,536 (GRCm39) |
V312A |
probably damaging |
Het |
Mex3d |
A |
G |
10: 80,222,728 (GRCm39) |
V176A |
probably benign |
Het |
Mmp3 |
T |
C |
9: 7,449,790 (GRCm39) |
S225P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,078,689 (GRCm39) |
|
probably benign |
Het |
Ninj2 |
C |
T |
6: 120,175,012 (GRCm39) |
A51V |
possibly damaging |
Het |
Nle1 |
A |
G |
11: 82,796,205 (GRCm39) |
|
probably benign |
Het |
Nol9 |
T |
C |
4: 152,137,062 (GRCm39) |
Y532H |
probably benign |
Het |
Nr2c1 |
T |
A |
10: 94,007,020 (GRCm39) |
V286E |
probably benign |
Het |
Or4b1b |
A |
T |
2: 90,112,748 (GRCm39) |
M57K |
probably damaging |
Het |
Or4c31 |
T |
G |
2: 88,292,269 (GRCm39) |
L195R |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,150 (GRCm39) |
H263L |
probably damaging |
Het |
Or5p4 |
T |
A |
7: 107,680,079 (GRCm39) |
I26N |
possibly damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,785 (GRCm39) |
Y121H |
probably benign |
Het |
Or6f1 |
T |
C |
7: 85,970,500 (GRCm39) |
Y220C |
probably benign |
Het |
Or9k7 |
A |
G |
10: 130,046,489 (GRCm39) |
L170P |
probably damaging |
Het |
Ovch2 |
A |
T |
7: 107,400,343 (GRCm39) |
V15D |
probably damaging |
Het |
Pate8 |
G |
T |
9: 36,493,924 (GRCm39) |
A3E |
unknown |
Het |
Pclo |
T |
G |
5: 14,731,748 (GRCm39) |
S3417A |
unknown |
Het |
Plscr2 |
T |
C |
9: 92,164,188 (GRCm39) |
S6P |
probably benign |
Het |
Pogz |
C |
T |
3: 94,784,336 (GRCm39) |
P722S |
possibly damaging |
Het |
Pom121l2 |
A |
T |
13: 22,166,395 (GRCm39) |
D222V |
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,049,325 (GRCm39) |
Y179C |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,294,042 (GRCm39) |
I179V |
possibly damaging |
Het |
Ranbp9 |
A |
C |
13: 43,576,134 (GRCm39) |
V355G |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,373,028 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,720,570 (GRCm39) |
S2693T |
probably benign |
Het |
Sbno1 |
G |
A |
5: 124,548,348 (GRCm39) |
T111I |
probably damaging |
Het |
Sdk1 |
A |
C |
5: 142,031,916 (GRCm39) |
N997T |
possibly damaging |
Het |
Setx |
G |
T |
2: 29,056,301 (GRCm39) |
E39* |
probably null |
Het |
Skint7 |
T |
A |
4: 111,837,559 (GRCm39) |
N112K |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc4a10 |
A |
T |
2: 62,021,192 (GRCm39) |
D80V |
probably benign |
Het |
Susd2 |
C |
A |
10: 75,474,437 (GRCm39) |
|
probably benign |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcf3 |
G |
T |
10: 80,256,992 (GRCm39) |
S77R |
probably damaging |
Het |
Tdpoz3 |
T |
C |
3: 93,733,672 (GRCm39) |
Y116H |
probably benign |
Het |
Tex26 |
C |
A |
5: 149,384,323 (GRCm39) |
D164E |
probably benign |
Het |
Thoc5 |
G |
A |
11: 4,852,213 (GRCm39) |
|
probably benign |
Het |
Tiparp |
A |
G |
3: 65,438,857 (GRCm39) |
R58G |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,074,471 (GRCm39) |
C597S |
probably damaging |
Het |
Ugt2a3 |
T |
A |
5: 87,484,349 (GRCm39) |
Q225L |
probably benign |
Het |
Vmn1r25 |
T |
A |
6: 57,955,696 (GRCm39) |
I198L |
probably benign |
Het |
Vmn2r106 |
A |
T |
17: 20,499,281 (GRCm39) |
V210D |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,284,407 (GRCm39) |
F483L |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,570,519 (GRCm39) |
K346E |
probably benign |
Het |
Zfhx4 |
T |
A |
3: 5,466,221 (GRCm39) |
S2126R |
possibly damaging |
Het |
Zfp608 |
C |
T |
18: 55,032,066 (GRCm39) |
G625R |
probably benign |
Het |
Zkscan5 |
A |
G |
5: 145,149,385 (GRCm39) |
D234G |
probably damaging |
Het |
Zscan10 |
T |
A |
17: 23,824,889 (GRCm39) |
V115E |
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 |
|
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 |
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'- GCGCACCTCAGTCCATAGAGGATTAAG -3'
(R):5'- AGGTTAGGAGATGAACCCCAGTCCAC -3'
Sequencing Primer
(F):5'- CCATAGAGGATTAAGAGCTGTAGAAG -3'
(R):5'- CATCAACTACAAGTGCTGAAGG -3'
|
Posted On |
2013-05-23 |