Incidental Mutation 'R4579:Pex1'
| ID |
343484 |
| 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 |
041801-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.437)
|
| Stock # |
R4579 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 3668880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 624
(R624S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000143132]
[ENSMUST00000195894]
|
| AlphaFold |
Q5BL07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
AA Change: R584S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
AA Change: R584S
| 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: R624S
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: R624S
| 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 |
unknown
Transcript: ENSMUST00000126545
AA Change: R163S
|
| SMART Domains |
Protein: ENSMUSP00000121813
Gene: ENSMUSG00000005907
AA Change: R163S
| 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: ENSMUST00000143132
|
| SMART Domains |
Protein: ENSMUSP00000116645
Gene: ENSMUSG00000005907
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:AAA
|
1 |
68 |
7e-31 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143959
|
| 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: ENSMUST00000199035
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (88/91) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
A |
G |
2: 18,031,848 (GRCm39) |
I90T |
probably damaging |
Het |
| Acox3 |
A |
G |
5: 35,761,987 (GRCm39) |
N444D |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,927,743 (GRCm39) |
Y499H |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,469,661 (GRCm39) |
R83S |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,752,612 (GRCm39) |
V368D |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 79,986,017 (GRCm39) |
V368A |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,067,090 (GRCm39) |
|
probably null |
Het |
| Bdh1 |
A |
T |
16: 31,254,954 (GRCm39) |
|
probably benign |
Het |
| Bmp6 |
A |
T |
13: 38,653,701 (GRCm39) |
Y256F |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,453,657 (GRCm39) |
S496* |
probably null |
Het |
| Capn15 |
C |
T |
17: 26,178,811 (GRCm39) |
R1128H |
probably damaging |
Het |
| Ccnf |
T |
A |
17: 24,450,303 (GRCm39) |
R461* |
probably null |
Het |
| Col6a1 |
C |
T |
10: 76,547,191 (GRCm39) |
V725I |
unknown |
Het |
| Cp |
T |
C |
3: 20,011,599 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,430,957 (GRCm39) |
V577A |
probably benign |
Het |
| Cux2 |
A |
T |
5: 121,998,716 (GRCm39) |
I1408K |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,630 (GRCm39) |
T130S |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,311,074 (GRCm39) |
T278A |
probably benign |
Het |
| Dchs1 |
T |
G |
7: 105,403,972 (GRCm39) |
T2857P |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,180 (GRCm39) |
M1884T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,608,554 (GRCm39) |
S1802G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,537 (GRCm39) |
S691G |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,529,267 (GRCm39) |
Q332L |
probably damaging |
Het |
| Eprs1 |
A |
G |
1: 185,133,804 (GRCm39) |
Y827C |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,594,051 (GRCm39) |
N706K |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,423 (GRCm39) |
L317S |
probably damaging |
Het |
| Fam120c |
G |
T |
X: 150,219,179 (GRCm39) |
G696W |
probably damaging |
Het |
| Fance |
T |
A |
17: 28,536,125 (GRCm39) |
|
probably null |
Het |
| Fancl |
G |
T |
11: 26,418,423 (GRCm39) |
|
probably null |
Het |
| Fbxo30 |
T |
A |
10: 11,165,293 (GRCm39) |
V5E |
probably benign |
Het |
| Foxn4 |
A |
T |
5: 114,394,886 (GRCm39) |
I347N |
possibly damaging |
Het |
| Galr2 |
A |
T |
11: 116,172,325 (GRCm39) |
D5V |
probably benign |
Het |
| Gm4845 |
T |
G |
1: 141,184,865 (GRCm39) |
|
noncoding transcript |
Het |
| Gnao1 |
A |
T |
8: 94,693,532 (GRCm39) |
Q73L |
probably damaging |
Het |
| Gnpat |
T |
A |
8: 125,605,241 (GRCm39) |
|
probably null |
Het |
| H2-T5 |
C |
T |
17: 36,472,649 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,791,356 (GRCm39) |
M2594T |
probably damaging |
Het |
| Hint3 |
T |
C |
10: 30,486,428 (GRCm39) |
H117R |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,541 (GRCm39) |
F253L |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,466 (GRCm39) |
D313G |
possibly damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,755,893 (GRCm39) |
D614E |
probably damaging |
Het |
| Ksr2 |
A |
T |
5: 117,894,335 (GRCm39) |
I825F |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 69,071,635 (GRCm39) |
S521C |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,123,015 (GRCm39) |
N725S |
probably damaging |
Het |
| Med1 |
T |
G |
11: 98,049,248 (GRCm39) |
E516A |
possibly damaging |
Het |
| Mical3 |
A |
T |
6: 120,935,660 (GRCm39) |
V1622E |
probably benign |
Het |
| Miip |
G |
A |
4: 147,945,518 (GRCm39) |
P373S |
probably damaging |
Het |
| Myo7a |
C |
A |
7: 97,722,400 (GRCm39) |
S1175I |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,340,474 (GRCm39) |
D781E |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,359,583 (GRCm39) |
V1407E |
probably damaging |
Het |
| Opalin |
A |
G |
19: 41,056,196 (GRCm39) |
L33P |
probably damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,458 (GRCm39) |
I162F |
probably benign |
Het |
| Or2n1b |
G |
C |
17: 38,460,296 (GRCm39) |
K272N |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,488 (GRCm39) |
I307V |
probably benign |
Het |
| Or8b12i |
G |
T |
9: 20,082,410 (GRCm39) |
S152R |
probably damaging |
Het |
| Or8k28 |
T |
C |
2: 86,285,859 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or8s10 |
A |
T |
15: 98,335,560 (GRCm39) |
D70V |
probably damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,168 (GRCm39) |
N23K |
probably damaging |
Het |
| Pdap1 |
A |
G |
5: 145,073,691 (GRCm39) |
|
probably benign |
Het |
| Pds5b |
A |
G |
5: 150,670,197 (GRCm39) |
E395G |
probably damaging |
Het |
| Pitrm1 |
G |
A |
13: 6,608,261 (GRCm39) |
V329I |
probably benign |
Het |
| Pop1 |
G |
A |
15: 34,515,970 (GRCm39) |
|
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,190,082 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
G |
T |
12: 73,335,298 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
A |
4: 111,750,384 (GRCm39) |
Y158F |
probably damaging |
Het |
| Spata3 |
T |
A |
1: 85,954,175 (GRCm39) |
V114E |
probably damaging |
Het |
| Tbcb |
T |
A |
7: 29,931,019 (GRCm39) |
I34F |
possibly damaging |
Het |
| Tek |
T |
A |
4: 94,751,903 (GRCm39) |
Y1014* |
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,014,681 (GRCm39) |
C644F |
probably damaging |
Het |
| Trim56 |
A |
C |
5: 137,142,918 (GRCm39) |
D199E |
possibly damaging |
Het |
| Tssk3 |
A |
T |
4: 129,383,110 (GRCm39) |
D187E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,147 (GRCm39) |
|
probably benign |
Het |
| Twf2 |
G |
A |
9: 106,090,025 (GRCm39) |
R126Q |
probably benign |
Het |
| Ugt1a10 |
T |
C |
1: 87,983,838 (GRCm39) |
M212T |
probably benign |
Het |
| Vmn1r177 |
A |
T |
7: 23,565,772 (GRCm39) |
F35I |
possibly damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,915 (GRCm39) |
H77Q |
possibly damaging |
Het |
| Zfp1004 |
T |
A |
2: 150,034,143 (GRCm39) |
Y186N |
probably damaging |
Het |
| Zfp524 |
G |
A |
7: 5,021,347 (GRCm39) |
V292I |
probably benign |
Het |
| Zfp788 |
T |
G |
7: 41,297,018 (GRCm39) |
I56S |
probably benign |
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 |
|
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'- TCTACTTGTCAGTCGGGGAG -3'
(R):5'- GCAAGTGTGGTATTTCTACAGAG -3'
Sequencing Primer
(F):5'- AGGCTGAATCTTGGAGGCTGC -3'
(R):5'- TTAAAGACTTGTGCCACGCG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation