Incidental Mutation 'IGL02539:Pex5'
| ID |
297657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pex5
|
| Ensembl Gene |
ENSMUSG00000005069 |
| Gene Name |
peroxisomal biogenesis factor 5 |
| Synonyms |
ESTM1, Pxr1, peroxisome biogenesis factor 5, PTS1R |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02539
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124373775-124392026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124380183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 288
(D288E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035861]
[ENSMUST00000080557]
[ENSMUST00000112530]
[ENSMUST00000112531]
[ENSMUST00000112532]
|
| AlphaFold |
O09012 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035861
AA Change: D288E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: D288E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
TPR
|
371 |
404 |
2.66e0 |
SMART |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
TPR
|
488 |
521 |
1.76e-5 |
SMART |
|
TPR
|
522 |
555 |
1.49e-3 |
SMART |
|
TPR
|
556 |
589 |
3.87e-2 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080557
AA Change: D251E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: D251E
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
334 |
367 |
2.66e0 |
SMART |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
TPR
|
451 |
484 |
1.76e-5 |
SMART |
|
TPR
|
485 |
518 |
1.49e-3 |
SMART |
|
TPR
|
519 |
552 |
3.87e-2 |
SMART |
|
low complexity region
|
585 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112530
AA Change: D281E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: D281E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
224 |
240 |
N/A |
INTRINSIC |
|
TPR
|
364 |
397 |
2.66e0 |
SMART |
|
low complexity region
|
436 |
447 |
N/A |
INTRINSIC |
|
TPR
|
481 |
514 |
1.76e-5 |
SMART |
|
TPR
|
515 |
548 |
1.49e-3 |
SMART |
|
TPR
|
549 |
582 |
3.87e-2 |
SMART |
|
low complexity region
|
615 |
626 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112531
AA Change: D251E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: D251E
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
334 |
367 |
2.66e0 |
SMART |
|
low complexity region
|
406 |
417 |
N/A |
INTRINSIC |
|
TPR
|
451 |
484 |
1.76e-5 |
SMART |
|
TPR
|
485 |
518 |
1.49e-3 |
SMART |
|
TPR
|
519 |
552 |
3.87e-2 |
SMART |
|
low complexity region
|
585 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112532
AA Change: D288E
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: D288E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
231 |
247 |
N/A |
INTRINSIC |
|
TPR
|
371 |
404 |
2.66e0 |
SMART |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
TPR
|
488 |
521 |
1.76e-5 |
SMART |
|
TPR
|
522 |
555 |
1.49e-3 |
SMART |
|
TPR
|
556 |
589 |
3.87e-2 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156415
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced size, muscle weakness, respiratory distress, and retarded development and defects of the kidney, liver, brain, and intestine associated with lack of peroxisomes, and die within 3-4 days of birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,229 (GRCm39) |
Y479* |
probably null |
Het |
| Btnl6 |
T |
C |
17: 34,727,288 (GRCm39) |
N414S |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,921,005 (GRCm39) |
N984D |
probably damaging |
Het |
| Cfc1 |
A |
T |
1: 34,576,203 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
G |
A |
19: 8,655,675 (GRCm39) |
V127M |
probably damaging |
Het |
| Dicer1 |
A |
G |
12: 104,663,294 (GRCm39) |
L1429P |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,420,174 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,531 (GRCm39) |
E348G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,172,619 (GRCm39) |
T2698I |
probably damaging |
Het |
| Gas2 |
A |
G |
7: 51,547,038 (GRCm39) |
D63G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,865,702 (GRCm39) |
D313G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,007,622 (GRCm39) |
S1407T |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,450,149 (GRCm39) |
M19K |
probably damaging |
Het |
| Itih3 |
C |
T |
14: 30,634,621 (GRCm39) |
D129N |
probably benign |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,196 (GRCm39) |
|
probably benign |
Het |
| Mertk |
A |
G |
2: 128,643,210 (GRCm39) |
T870A |
probably damaging |
Het |
| Mtmr11 |
C |
A |
3: 96,072,308 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,322,704 (GRCm39) |
|
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,355 (GRCm39) |
D186G |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or10a5 |
T |
A |
7: 106,635,641 (GRCm39) |
I93N |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,923,321 (GRCm39) |
K101R |
probably benign |
Het |
| Pds5a |
C |
T |
5: 65,823,462 (GRCm39) |
D110N |
probably damaging |
Het |
| Pitrm1 |
A |
G |
13: 6,618,792 (GRCm39) |
D655G |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,938,690 (GRCm39) |
N554S |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,413,680 (GRCm39) |
Q315R |
probably damaging |
Het |
| Plpp5 |
A |
G |
8: 26,214,215 (GRCm39) |
H244R |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,458 (GRCm39) |
V819I |
probably benign |
Het |
| Rap1b |
T |
A |
10: 117,658,709 (GRCm39) |
R41S |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,279,727 (GRCm39) |
S501C |
probably benign |
Het |
| Sel1l2 |
G |
T |
2: 140,072,778 (GRCm39) |
A619D |
probably damaging |
Het |
| Ska3 |
T |
C |
14: 58,057,968 (GRCm39) |
D128G |
possibly damaging |
Het |
| Specc1l |
A |
T |
10: 75,103,342 (GRCm39) |
I889L |
probably benign |
Het |
| Ssxb5 |
T |
A |
X: 8,675,087 (GRCm39) |
N130K |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,663,602 (GRCm39) |
G1120C |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,798 (GRCm39) |
Q267R |
possibly damaging |
Het |
| Tlr8 |
T |
A |
X: 166,027,152 (GRCm39) |
H566L |
possibly damaging |
Het |
| Tmem132d |
T |
A |
5: 127,861,043 (GRCm39) |
Q1026L |
probably benign |
Het |
| Tmem214 |
G |
A |
5: 31,030,090 (GRCm39) |
A296T |
probably benign |
Het |
| Trp53bp2 |
C |
A |
1: 182,276,256 (GRCm39) |
P746T |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,632 (GRCm39) |
I547F |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,918,373 (GRCm39) |
N466K |
probably damaging |
Het |
|
| Other mutations in Pex5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01980:Pex5
|
APN |
6 |
124,375,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02027:Pex5
|
APN |
6 |
124,375,847 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02041:Pex5
|
APN |
6 |
124,382,240 (GRCm39) |
splice site |
probably benign |
|
|
IGL02128:Pex5
|
APN |
6 |
124,375,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Pex5
|
APN |
6 |
124,390,264 (GRCm39) |
missense |
probably benign |
|
|
IGL03180:Pex5
|
APN |
6 |
124,390,522 (GRCm39) |
splice site |
probably benign |
|
|
G1Funyon:Pex5
|
UTSW |
6 |
124,382,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0143:Pex5
|
UTSW |
6 |
124,375,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Pex5
|
UTSW |
6 |
124,381,596 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0904:Pex5
|
UTSW |
6 |
124,376,896 (GRCm39) |
splice site |
probably benign |
|
|
R1970:Pex5
|
UTSW |
6 |
124,391,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Pex5
|
UTSW |
6 |
124,380,079 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4879:Pex5
|
UTSW |
6 |
124,375,322 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Pex5
|
UTSW |
6 |
124,390,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5069:Pex5
|
UTSW |
6 |
124,390,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5339:Pex5
|
UTSW |
6 |
124,374,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6433:Pex5
|
UTSW |
6 |
124,390,572 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6825:Pex5
|
UTSW |
6 |
124,391,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6851:Pex5
|
UTSW |
6 |
124,380,113 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7148:Pex5
|
UTSW |
6 |
124,382,231 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7286:Pex5
|
UTSW |
6 |
124,375,022 (GRCm39) |
nonsense |
probably null |
|
|
R7673:Pex5
|
UTSW |
6 |
124,376,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7752:Pex5
|
UTSW |
6 |
124,390,977 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7752:Pex5
|
UTSW |
6 |
124,380,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7793:Pex5
|
UTSW |
6 |
124,376,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8301:Pex5
|
UTSW |
6 |
124,382,142 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8964:Pex5
|
UTSW |
6 |
124,375,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pex5
|
UTSW |
6 |
124,375,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation