Incidental Mutation 'R5995:Pex1'
| ID |
481055 |
| 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 |
044174-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.437)
|
| Stock # |
R5995 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3646066-3687230 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3657704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 425
(M425K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006061]
[ENSMUST00000121291]
[ENSMUST00000142516]
[ENSMUST00000195894]
|
| AlphaFold |
Q5BL07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006061
|
| SMART Domains |
Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907
| 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 |
possibly damaging
Transcript: ENSMUST00000121291
AA Change: M425K
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907
AA Change: M425K
| 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 |
noncoding transcript
Transcript: ENSMUST00000123268
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.3564 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
| Validation Efficiency |
100% (56/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Adgrb2 |
C |
A |
4: 129,910,896 (GRCm39) |
A1104E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,614,378 (GRCm39) |
V4005A |
probably benign |
Het |
| Bend6 |
T |
C |
1: 33,917,520 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,865,987 (GRCm39) |
V265E |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,718 (GRCm39) |
I575V |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,607,561 (GRCm39) |
I1094L |
probably benign |
Het |
| Cd44 |
A |
G |
2: 102,692,015 (GRCm39) |
V91A |
probably damaging |
Het |
| Cdv3 |
C |
G |
9: 103,241,202 (GRCm39) |
G122R |
probably damaging |
Het |
| Ces2c |
T |
A |
8: 105,577,533 (GRCm39) |
V272D |
possibly damaging |
Het |
| Colgalt1 |
T |
A |
8: 72,075,754 (GRCm39) |
M467K |
probably damaging |
Het |
| Crtam |
G |
A |
9: 40,905,836 (GRCm39) |
T31M |
possibly damaging |
Het |
| Cyp7a1 |
C |
T |
4: 6,272,371 (GRCm39) |
V281M |
possibly damaging |
Het |
| Dnah7a |
A |
T |
1: 53,659,829 (GRCm39) |
N726K |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,439,142 (GRCm39) |
E232G |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,540 (GRCm39) |
E217G |
probably benign |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,180,111 (GRCm39) |
Y618F |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,377 (GRCm39) |
Y183H |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,546,487 (GRCm39) |
I374L |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,787,694 (GRCm39) |
T132S |
probably benign |
Het |
| Hoxa3 |
T |
A |
6: 52,147,263 (GRCm39) |
|
probably benign |
Het |
| Il27 |
A |
C |
7: 126,188,535 (GRCm39) |
|
probably benign |
Het |
| Klhdc1 |
T |
C |
12: 69,297,548 (GRCm39) |
Y40H |
probably damaging |
Het |
| Klhl33 |
T |
G |
14: 51,130,108 (GRCm39) |
E462A |
possibly damaging |
Het |
| Myh10 |
T |
C |
11: 68,705,809 (GRCm39) |
I1979T |
probably benign |
Het |
| Nfkbil1 |
G |
T |
17: 35,439,774 (GRCm39) |
F246L |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,572 (GRCm39) |
F424I |
probably damaging |
Het |
| Nod1 |
A |
G |
6: 54,921,539 (GRCm39) |
Y260H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,433,898 (GRCm39) |
L69P |
probably damaging |
Het |
| Onecut2 |
G |
T |
18: 64,474,619 (GRCm39) |
R390L |
probably damaging |
Het |
| Oprm1 |
A |
C |
10: 6,782,520 (GRCm39) |
M388L |
probably benign |
Het |
| Or10q3 |
A |
T |
19: 11,848,226 (GRCm39) |
I118N |
possibly damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or1o3 |
C |
A |
17: 37,574,539 (GRCm39) |
Q5H |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,200 (GRCm39) |
N155S |
probably damaging |
Het |
| Or5b96 |
A |
C |
19: 12,867,961 (GRCm39) |
|
probably null |
Het |
| Or8g53 |
A |
G |
9: 39,683,988 (GRCm39) |
V36A |
probably benign |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,113 (GRCm39) |
Y462* |
probably null |
Het |
| Plec |
A |
T |
15: 76,070,105 (GRCm39) |
Y1001N |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,195 (GRCm39) |
Y380H |
probably damaging |
Het |
| Pou2f2 |
T |
G |
7: 24,796,869 (GRCm39) |
K236Q |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,698 (GRCm39) |
E896K |
possibly damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,123,081 (GRCm39) |
L614Q |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,751,029 (GRCm39) |
I339F |
unknown |
Het |
| Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
| Snrk |
A |
G |
9: 121,986,288 (GRCm39) |
N219S |
probably damaging |
Het |
| Supt20 |
T |
C |
3: 54,616,474 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,591,636 (GRCm39) |
I21011T |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,194,921 (GRCm39) |
I802F |
probably damaging |
Het |
| Vmn2r92 |
T |
C |
17: 18,389,213 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
T |
A |
18: 45,019,320 (GRCm39) |
M1363K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,377,071 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,850,681 (GRCm39) |
C1261F |
probably damaging |
Het |
| Zfp980 |
A |
T |
4: 145,428,479 (GRCm39) |
K403* |
probably null |
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 |
|
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'- TTGACTACTCTAGCTTTCTCAGTAG -3'
(R):5'- AACGCCATGGTGTGTAACTC -3'
Sequencing Primer
(F):5'- CCAAGCACACGGTATTTTGG -3'
(R):5'- CATGGTGTGTAACTCCTAACAACG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation