Incidental Mutation 'R4586:Pex1'
ID |
344093 |
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 |
041807-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R4586 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3683885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1127
(Y1127C)
|
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: Y1087C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000006061 Gene: ENSMUSG00000005907 AA Change: Y1087C
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: Y1127C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113304 Gene: ENSMUSG00000005907 AA Change: Y1127C
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 |
0.5664 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (96/96) |
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
T |
C |
5: 4,026,151 (GRCm39) |
S1269P |
probably benign |
Het |
Aqr |
T |
C |
2: 113,943,058 (GRCm39) |
T1172A |
probably benign |
Het |
Art2a |
A |
T |
7: 101,203,956 (GRCm39) |
L194* |
probably null |
Het |
Atrn |
T |
C |
2: 130,823,962 (GRCm39) |
F967S |
probably damaging |
Het |
Btnl1 |
A |
G |
17: 34,601,436 (GRCm39) |
D323G |
probably damaging |
Het |
Cadps |
C |
A |
14: 12,505,808 (GRCm38) |
C754F |
probably damaging |
Het |
Catspere2 |
A |
G |
1: 177,950,351 (GRCm39) |
D734G |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,837,401 (GRCm39) |
T131A |
probably benign |
Het |
Cfap298 |
A |
T |
16: 90,724,314 (GRCm39) |
V136D |
probably damaging |
Het |
Cic |
A |
T |
7: 24,972,203 (GRCm39) |
I645L |
probably benign |
Het |
Clca3a1 |
C |
A |
3: 144,722,619 (GRCm39) |
C251F |
probably damaging |
Het |
Cldn16 |
A |
T |
16: 26,296,308 (GRCm39) |
T95S |
probably benign |
Het |
Cntnap4 |
C |
T |
8: 113,537,342 (GRCm39) |
H738Y |
probably benign |
Het |
Col8a2 |
A |
T |
4: 126,204,812 (GRCm39) |
|
probably benign |
Het |
Corin |
A |
T |
5: 72,487,042 (GRCm39) |
V706D |
probably damaging |
Het |
Cuzd1 |
G |
A |
7: 130,916,529 (GRCm39) |
P310L |
probably damaging |
Het |
Cyp4a12a |
T |
C |
4: 115,184,509 (GRCm39) |
F295L |
probably benign |
Het |
Cyp4a12b |
T |
G |
4: 115,289,703 (GRCm39) |
M190R |
probably damaging |
Het |
Dagla |
A |
G |
19: 10,248,373 (GRCm39) |
Y96H |
probably damaging |
Het |
Dapp1 |
T |
C |
3: 137,644,932 (GRCm39) |
Q148R |
probably benign |
Het |
Dcaf17 |
T |
A |
2: 70,918,924 (GRCm39) |
S499R |
probably benign |
Het |
Ddx27 |
T |
A |
2: 166,861,904 (GRCm39) |
D135E |
probably benign |
Het |
Defb3 |
A |
T |
8: 19,345,172 (GRCm39) |
I43F |
possibly damaging |
Het |
Dnajc10 |
T |
G |
2: 80,178,122 (GRCm39) |
F710V |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,327,256 (GRCm39) |
L735P |
probably damaging |
Het |
Dnmt1 |
G |
A |
9: 20,837,989 (GRCm39) |
P242S |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,615,917 (GRCm39) |
D3022N |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,901,725 (GRCm39) |
T464I |
probably damaging |
Het |
Epc1 |
T |
C |
18: 6,449,138 (GRCm39) |
N453S |
possibly damaging |
Het |
Eral1 |
A |
T |
11: 77,969,130 (GRCm39) |
N123K |
probably damaging |
Het |
Ercc5 |
G |
A |
1: 44,198,017 (GRCm39) |
V145I |
probably benign |
Het |
Evc |
A |
G |
5: 37,481,057 (GRCm39) |
S263P |
probably damaging |
Het |
Fancc |
A |
T |
13: 63,495,378 (GRCm39) |
M182K |
probably benign |
Het |
Fbxl3 |
G |
T |
14: 103,320,526 (GRCm39) |
A355E |
probably damaging |
Het |
Fig4 |
A |
C |
10: 41,064,628 (GRCm39) |
S872A |
probably damaging |
Het |
Gm14393 |
C |
A |
2: 174,904,497 (GRCm39) |
|
probably benign |
Het |
Gm27013 |
A |
T |
6: 130,498,003 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5a |
T |
A |
6: 135,060,450 (GRCm39) |
M313K |
probably benign |
Het |
H2ac15 |
T |
C |
13: 21,937,882 (GRCm39) |
N39S |
possibly damaging |
Het |
H2-T3 |
T |
C |
17: 36,500,236 (GRCm39) |
|
probably null |
Het |
Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
Hook3 |
T |
G |
8: 26,522,039 (GRCm39) |
K679T |
probably damaging |
Het |
Ints2 |
G |
T |
11: 86,140,101 (GRCm39) |
R244S |
probably damaging |
Het |
Itgb4 |
T |
C |
11: 115,884,151 (GRCm39) |
V945A |
probably damaging |
Het |
Itih2 |
C |
T |
2: 10,115,211 (GRCm39) |
S387N |
probably benign |
Het |
Jmjd7 |
T |
A |
2: 119,862,649 (GRCm39) |
M306K |
probably benign |
Het |
Klra2 |
T |
A |
6: 131,207,120 (GRCm39) |
D163V |
probably benign |
Het |
Kmo |
T |
A |
1: 175,478,138 (GRCm39) |
M208K |
probably damaging |
Het |
Kmo |
G |
T |
1: 175,478,139 (GRCm39) |
M208I |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,358 (GRCm39) |
T480A |
probably damaging |
Het |
Mogs |
G |
T |
6: 83,095,619 (GRCm39) |
R812L |
possibly damaging |
Het |
Mrpl43 |
A |
G |
19: 44,994,328 (GRCm39) |
I97T |
possibly damaging |
Het |
Myoz1 |
A |
G |
14: 20,700,663 (GRCm39) |
W185R |
probably damaging |
Het |
Ncam2 |
T |
A |
16: 81,262,457 (GRCm39) |
H303Q |
probably benign |
Het |
Ntaq1 |
A |
T |
15: 58,011,740 (GRCm39) |
I34F |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
Obox1 |
A |
T |
7: 15,290,152 (GRCm39) |
N165I |
possibly damaging |
Het |
Or1j1 |
C |
T |
2: 36,702,537 (GRCm39) |
C189Y |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,968,558 (GRCm39) |
E308D |
probably benign |
Het |
Or4c113 |
T |
G |
2: 88,885,498 (GRCm39) |
I91L |
possibly damaging |
Het |
Or6c35 |
A |
G |
10: 129,169,142 (GRCm39) |
T131A |
probably benign |
Het |
Pno1 |
T |
C |
11: 17,161,438 (GRCm39) |
K24E |
probably benign |
Het |
Qdpr |
T |
A |
5: 45,596,669 (GRCm39) |
N165I |
possibly damaging |
Het |
Robo2 |
A |
G |
16: 73,758,761 (GRCm39) |
V674A |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,889,864 (GRCm39) |
T598S |
unknown |
Het |
Samd11 |
A |
G |
4: 156,333,889 (GRCm39) |
L174P |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,573,395 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
G |
T |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,569,474 (GRCm39) |
|
probably benign |
Het |
Sox2 |
A |
G |
3: 34,705,193 (GRCm39) |
N210S |
probably benign |
Het |
Spag6 |
T |
C |
2: 18,736,958 (GRCm39) |
|
probably null |
Het |
Speer4b |
A |
T |
5: 27,703,036 (GRCm39) |
L154Q |
probably null |
Het |
Stt3a |
T |
A |
9: 36,653,089 (GRCm39) |
Q531L |
probably damaging |
Het |
Tcl1 |
A |
C |
12: 105,183,767 (GRCm39) |
|
probably benign |
Het |
Trip11 |
A |
T |
12: 101,849,600 (GRCm39) |
M1488K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,798,747 (GRCm39) |
H509R |
probably benign |
Het |
Ulk3 |
C |
T |
9: 57,501,593 (GRCm39) |
L425F |
possibly damaging |
Het |
Vmn1r238 |
T |
A |
18: 3,123,294 (GRCm39) |
K40M |
probably damaging |
Het |
Vopp1 |
G |
A |
6: 57,731,533 (GRCm39) |
P153S |
probably damaging |
Het |
Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
Zfp14 |
G |
T |
7: 29,738,341 (GRCm39) |
Q215K |
probably damaging |
Het |
Zfp473 |
A |
T |
7: 44,382,376 (GRCm39) |
Y651* |
probably null |
Het |
Zfp735 |
G |
T |
11: 73,580,550 (GRCm39) |
E16D |
possibly damaging |
Het |
Zfp846 |
G |
T |
9: 20,504,809 (GRCm39) |
C223F |
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 |
|
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 |
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'- TGTAATTTAGGATGGAGGCTCC -3'
(R):5'- CTGTGGAACCAATCTTGCTCC -3'
Sequencing Primer
(F):5'- CAGCTCTGACAGTGACCTGAGTC -3'
(R):5'- ACCAATCTTGCTCCTGTTATAAATG -3'
|
Posted On |
2015-09-24 |