Incidental Mutation 'IGL03180:Pex5'
| ID |
412216 |
| 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 # |
IGL03180
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124373775-124392026 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 124390522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
| 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
|
| SMART Domains |
Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
| 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
|
| SMART Domains |
Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
| 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: ENSMUST00000150899
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
| Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
| Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
| Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
| Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
| Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
| Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
| Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
| Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
| Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
| Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,762,742 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
| Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
| Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
| Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
| Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
| Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
| Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
| Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
| Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
| Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
| Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
| Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
| Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
| Papss1 |
C |
T |
3: 131,313,143 (GRCm39) |
R386W |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,933,521 (GRCm39) |
S935G |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
| Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
| Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,584,151 (GRCm39) |
V806D |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
| Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
| Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
| Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,670,552 (GRCm39) |
D73G |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
| Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
| Vwde |
T |
C |
6: 13,205,764 (GRCm39) |
D261G |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
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 |
|
|
IGL02539:Pex5
|
APN |
6 |
124,380,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2016-08-02 |
Incidental Mutation