Incidental Mutation 'R6825:Pex5'
| ID |
534106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5
|
| Ensembl Gene |
ENSMUSG00000005069 |
| Gene Name |
peroxisomal biogenesis factor 5 |
| Synonyms |
ESTM1, Pxr1, peroxisome biogenesis factor 5, PTS1R |
| MMRRC Submission |
044937-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124373775-124392026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124391340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 18
(M18K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035861]
[ENSMUST00000080557]
[ENSMUST00000112530]
[ENSMUST00000112531]
[ENSMUST00000112532]
|
| AlphaFold |
O09012 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035861
AA Change: M18K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049132
Gene: ENSMUSG00000005069
AA Change: M18K
| 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 damaging
Transcript: ENSMUST00000080557
AA Change: M18K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079398
Gene: ENSMUSG00000005069
AA Change: M18K
| 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 |
possibly damaging
Transcript: ENSMUST00000112530
AA Change: M18K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108149
Gene: ENSMUSG00000005069
AA Change: M18K
| 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 damaging
Transcript: ENSMUST00000112531
AA Change: M18K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108150
Gene: ENSMUSG00000005069
AA Change: M18K
| 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 |
possibly damaging
Transcript: ENSMUST00000112532
AA Change: M18K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108151
Gene: ENSMUSG00000005069
AA Change: M18K
| 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 |
|
| Meta Mutation Damage Score |
0.2983 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,954,654 (GRCm39) |
S206T |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,036,696 (GRCm39) |
|
probably null |
Het |
| Adam10 |
G |
T |
9: 70,668,884 (GRCm39) |
C400F |
probably damaging |
Het |
| Ankle2 |
A |
T |
5: 110,398,635 (GRCm39) |
R561S |
probably null |
Het |
| Arhgef5 |
C |
T |
6: 43,251,895 (GRCm39) |
T882I |
probably damaging |
Het |
| Arpc1a |
A |
T |
5: 145,032,936 (GRCm39) |
K82* |
probably null |
Het |
| Card11 |
C |
A |
5: 140,863,837 (GRCm39) |
R967L |
probably benign |
Het |
| Ccdc82 |
G |
T |
9: 13,251,601 (GRCm39) |
|
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,227,392 (GRCm39) |
D1026G |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,119,833 (GRCm39) |
Q1321L |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,528,408 (GRCm39) |
|
probably benign |
Het |
| Csf3 |
G |
C |
11: 98,593,273 (GRCm39) |
G130A |
probably damaging |
Het |
| Cul2 |
T |
A |
18: 3,434,946 (GRCm39) |
S737T |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,584,543 (GRCm39) |
H504Y |
probably benign |
Het |
| Cyp3a44 |
G |
A |
5: 145,716,396 (GRCm39) |
P398L |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,960,147 (GRCm39) |
I2206T |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Epb41l5 |
A |
T |
1: 119,547,931 (GRCm39) |
D157E |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,343 (GRCm39) |
S6P |
probably damaging |
Het |
| Faxc |
T |
C |
4: 21,931,672 (GRCm39) |
S37P |
probably benign |
Het |
| Fbxl19 |
T |
A |
7: 127,349,187 (GRCm39) |
I119K |
probably damaging |
Het |
| Frmd4b |
A |
G |
6: 97,302,437 (GRCm39) |
V195A |
possibly damaging |
Het |
| Fut9 |
A |
T |
4: 25,619,925 (GRCm39) |
S296R |
probably benign |
Het |
| Gas6 |
T |
C |
8: 13,533,674 (GRCm39) |
N112D |
probably benign |
Het |
| H2-Q1 |
T |
C |
17: 35,540,028 (GRCm39) |
L99P |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,940,561 (GRCm39) |
I346N |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,278,976 (GRCm39) |
K2E |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,009,322 (GRCm39) |
M502T |
possibly damaging |
Het |
| Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,277,015 (GRCm39) |
|
probably null |
Het |
| Mgat4a |
T |
A |
1: 37,503,515 (GRCm39) |
K220* |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,457,476 (GRCm39) |
R232G |
possibly damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,255 (GRCm39) |
I255V |
possibly damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,514 (GRCm39) |
V194I |
probably benign |
Het |
| Phlda3 |
T |
C |
1: 135,694,562 (GRCm39) |
*126Q |
probably null |
Het |
| Plxna1 |
G |
T |
6: 89,297,597 (GRCm39) |
D1862E |
probably benign |
Het |
| Pold4 |
A |
T |
19: 4,282,164 (GRCm39) |
I7F |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,173,432 (GRCm39) |
I19F |
possibly damaging |
Het |
| Prl7d1 |
T |
G |
13: 27,894,125 (GRCm39) |
E148A |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,985,892 (GRCm39) |
V1201E |
possibly damaging |
Het |
| Rab3gap1 |
T |
C |
1: 127,858,158 (GRCm39) |
C510R |
probably damaging |
Het |
| Rhbdf1 |
C |
T |
11: 32,159,970 (GRCm39) |
R802H |
probably damaging |
Het |
| Rpl18a |
A |
C |
8: 71,348,836 (GRCm39) |
F47V |
probably damaging |
Het |
| Sema5b |
C |
A |
16: 35,448,377 (GRCm39) |
|
probably null |
Het |
| Sspo |
G |
A |
6: 48,442,459 (GRCm39) |
G1985R |
probably benign |
Het |
| Tcaf2 |
C |
T |
6: 42,606,452 (GRCm39) |
A501T |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,681,542 (GRCm39) |
D563G |
probably damaging |
Het |
| Tdh |
G |
A |
14: 63,733,281 (GRCm39) |
T155M |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,937,711 (GRCm39) |
N1654S |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,800,609 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
G |
T |
1: 74,041,482 (GRCm39) |
C136* |
probably null |
Het |
| Tomm5 |
A |
T |
4: 45,106,443 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
T |
15: 27,889,394 (GRCm39) |
F512I |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,930,102 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,081,707 (GRCm39) |
H81Q |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,713,562 (GRCm39) |
S71P |
probably damaging |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,817,471 (GRCm39) |
Y238C |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,843,265 (GRCm39) |
D307G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTTACTGAATGGTGACTGC -3'
(R):5'- TCCTCTTGGACTCCAGACAC -3'
Sequencing Primer
(F):5'- GTTACTGAATGGTGACTGCTATTAC -3'
(R):5'- TTGGACTCCAGACACACCTCG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation