Incidental Mutation 'R3946:Pex1'
ID |
307699 |
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 |
040827-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R3946 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 3676084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 891
(L891F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000143132]
[ENSMUST00000195894]
|
AlphaFold |
Q5BL07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006061
AA Change: L851F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: L851F
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: L891F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: L891F
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: ENSMUST00000143132
|
SMART Domains |
Protein: ENSMUSP00000116645 Gene: ENSMUSG00000005907
Domain | Start | End | E-Value | Type |
Blast:AAA
|
1 |
68 |
7e-31 |
BLAST |
|
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: ENSMUST00000196124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196692
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199632
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199650
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (60/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi2 |
A |
G |
1: 60,492,913 (GRCm39) |
Q328R |
probably damaging |
Het |
Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
Brca2 |
T |
A |
5: 150,460,169 (GRCm39) |
S481R |
probably damaging |
Het |
Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
Calr3 |
A |
G |
8: 73,197,464 (GRCm39) |
Y22H |
probably damaging |
Het |
Caprin1 |
T |
A |
2: 103,627,111 (GRCm39) |
I59F |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,190,636 (GRCm39) |
T442A |
probably damaging |
Het |
Chn2 |
T |
C |
6: 54,246,411 (GRCm39) |
|
probably benign |
Het |
Cic |
C |
A |
7: 24,971,771 (GRCm39) |
R501S |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
Dglucy |
T |
C |
12: 100,804,959 (GRCm39) |
|
probably null |
Het |
Dtx1 |
T |
G |
5: 120,819,351 (GRCm39) |
T616P |
possibly damaging |
Het |
Eef1g |
T |
C |
19: 8,947,341 (GRCm39) |
L171P |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,069,475 (GRCm39) |
S465P |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,006,478 (GRCm39) |
C472* |
probably null |
Het |
Gm7104 |
T |
C |
12: 88,252,812 (GRCm39) |
|
noncoding transcript |
Het |
Got2 |
A |
G |
8: 96,614,858 (GRCm39) |
S26P |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,860,123 (GRCm39) |
I329M |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,272,406 (GRCm39) |
D1295E |
possibly damaging |
Het |
Hoxd12 |
G |
T |
2: 74,505,771 (GRCm39) |
R114L |
probably damaging |
Het |
Ilkap |
A |
C |
1: 91,314,972 (GRCm39) |
D124E |
probably damaging |
Het |
Maco1 |
A |
G |
4: 134,531,792 (GRCm39) |
Y626H |
probably damaging |
Het |
Med6 |
T |
C |
12: 81,628,625 (GRCm39) |
Y88C |
probably damaging |
Het |
Mep1a |
A |
T |
17: 43,785,932 (GRCm39) |
L719* |
probably null |
Het |
Mmp23 |
T |
C |
4: 155,736,480 (GRCm39) |
Y187C |
probably damaging |
Het |
Myo1g |
A |
G |
11: 6,470,760 (GRCm39) |
M32T |
possibly damaging |
Het |
Ncstn |
T |
C |
1: 171,895,061 (GRCm39) |
E614G |
probably benign |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or4f15 |
G |
A |
2: 111,813,642 (GRCm39) |
T259M |
possibly damaging |
Het |
Otub2 |
T |
A |
12: 103,359,085 (GRCm39) |
L58* |
probably null |
Het |
Pcdhga12 |
G |
A |
18: 37,900,682 (GRCm39) |
V505I |
probably benign |
Het |
Pcdhga9 |
T |
A |
18: 37,870,897 (GRCm39) |
V242D |
probably damaging |
Het |
Pgm2 |
C |
T |
5: 64,269,404 (GRCm39) |
T497I |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,235,840 (GRCm39) |
F171L |
probably damaging |
Het |
Pilrb1 |
T |
G |
5: 137,855,654 (GRCm39) |
K79T |
probably benign |
Het |
Pin1 |
C |
T |
9: 20,566,660 (GRCm39) |
R21W |
probably damaging |
Het |
Prxl2c |
T |
C |
13: 64,456,912 (GRCm39) |
I104V |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
Rad17 |
G |
A |
13: 100,759,371 (GRCm39) |
A552V |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,851,925 (GRCm39) |
T249A |
probably benign |
Het |
Rtkn |
A |
T |
6: 83,112,957 (GRCm39) |
I10F |
probably benign |
Het |
Scube2 |
T |
A |
7: 109,456,797 (GRCm39) |
I103F |
possibly damaging |
Het |
Sec23b |
A |
G |
2: 144,423,893 (GRCm39) |
H514R |
probably benign |
Het |
Serbp1 |
T |
A |
6: 67,249,204 (GRCm39) |
D223E |
probably benign |
Het |
Slc14a1 |
C |
A |
18: 78,154,607 (GRCm39) |
V260L |
probably benign |
Het |
Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
Stk19 |
A |
T |
17: 35,043,723 (GRCm39) |
|
probably benign |
Het |
Svs5 |
T |
C |
2: 164,079,047 (GRCm39) |
M287V |
probably benign |
Het |
Syne3 |
T |
A |
12: 104,924,325 (GRCm39) |
Q358L |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,806,984 (GRCm39) |
F58L |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,545,872 (GRCm39) |
V198A |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,574,752 (GRCm39) |
Y9N |
probably damaging |
Het |
Tmx3 |
G |
A |
18: 90,542,459 (GRCm39) |
A186T |
possibly damaging |
Het |
Traf3 |
G |
A |
12: 111,221,679 (GRCm39) |
S280N |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,059,107 (GRCm39) |
H918L |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,460,701 (GRCm39) |
V2654G |
probably benign |
Het |
Vinac1 |
A |
G |
2: 128,881,521 (GRCm39) |
L135P |
probably damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,817,057 (GRCm39) |
Y175H |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,734,109 (GRCm39) |
D1330G |
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 |
|
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'- CTGTACACTGTGTTCATGCAAG -3'
(R):5'- GTCCCATGGCATGCTTGTTG -3'
Sequencing Primer
(F):5'- GGGTGGCTAGGttgttt -3'
(R):5'- GAGGGACACATGTTACCTGATTCC -3'
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Posted On |
2015-04-17 |