Incidental Mutation 'IGL02508:Pex5l'
| ID |
296474 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pex5l
|
| Ensembl Gene |
ENSMUSG00000027674 |
| Gene Name |
peroxisomal biogenesis factor 5-like |
| Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
IGL02508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 33047051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078226
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
TPR
|
349 |
382 |
6.95e-4 |
SMART |
|
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
|
TPR
|
463 |
496 |
3.19e-3 |
SMART |
|
TPR
|
497 |
530 |
3.47e-4 |
SMART |
|
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108219
|
| SMART Domains |
Protein: ENSMUSP00000103854
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
124 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
|
PDB:4EQF|A
|
266 |
362 |
8e-64 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108224
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
204 |
N/A |
INTRINSIC |
|
TPR
|
325 |
358 |
6.95e-4 |
SMART |
|
Blast:TPR
|
359 |
392 |
2e-14 |
BLAST |
|
TPR
|
439 |
472 |
3.19e-3 |
SMART |
|
TPR
|
473 |
506 |
3.47e-4 |
SMART |
|
TPR
|
507 |
540 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108225
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
TPR
|
349 |
382 |
6.95e-4 |
SMART |
|
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
|
TPR
|
463 |
496 |
3.19e-3 |
SMART |
|
TPR
|
497 |
530 |
3.47e-4 |
SMART |
|
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108226
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
TPR
|
301 |
334 |
6.95e-4 |
SMART |
|
Blast:TPR
|
335 |
368 |
2e-14 |
BLAST |
|
TPR
|
415 |
448 |
3.19e-3 |
SMART |
|
TPR
|
449 |
482 |
3.47e-4 |
SMART |
|
TPR
|
483 |
516 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192093
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
228 |
N/A |
INTRINSIC |
|
TPR
|
349 |
382 |
6.95e-4 |
SMART |
|
Blast:TPR
|
383 |
416 |
4e-14 |
BLAST |
|
TPR
|
463 |
496 |
3.19e-3 |
SMART |
|
TPR
|
497 |
530 |
3.47e-4 |
SMART |
|
TPR
|
531 |
564 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193289
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
TPR
|
384 |
417 |
6.95e-4 |
SMART |
|
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
|
TPR
|
498 |
531 |
3.19e-3 |
SMART |
|
TPR
|
532 |
565 |
3.47e-4 |
SMART |
|
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193681
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
TPR
|
384 |
417 |
6.95e-4 |
SMART |
|
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
|
TPR
|
498 |
531 |
3.19e-3 |
SMART |
|
TPR
|
532 |
565 |
3.47e-4 |
SMART |
|
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194016
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
TPR
|
384 |
417 |
6.95e-4 |
SMART |
|
Blast:TPR
|
418 |
451 |
4e-14 |
BLAST |
|
TPR
|
498 |
531 |
3.19e-3 |
SMART |
|
TPR
|
532 |
565 |
3.47e-4 |
SMART |
|
TPR
|
566 |
599 |
1.1e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted mutation lacking isoform b exhibit exhibit reduced hyperpolarization-activated current in CA1 pyramidal neuron, impaired motor learning, impaired nest-building, decreased startle reflex, and decreased depression-related behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061I17Rik |
T |
A |
3: 116,870,764 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrv1 |
A |
T |
13: 81,583,675 (GRCm39) |
|
probably benign |
Het |
| AI429214 |
T |
G |
8: 37,461,240 (GRCm39) |
D129E |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,858,054 (GRCm39) |
T215M |
probably damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,609,184 (GRCm39) |
*1079Q |
probably null |
Het |
| Brca2 |
T |
C |
5: 150,466,773 (GRCm39) |
V2179A |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,824,559 (GRCm39) |
E91G |
probably damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,818 (GRCm39) |
Q1052* |
probably null |
Het |
| Chd5 |
A |
G |
4: 152,447,481 (GRCm39) |
E510G |
probably damaging |
Het |
| Cntnap2 |
A |
G |
6: 46,211,254 (GRCm39) |
D556G |
probably damaging |
Het |
| Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,428,261 (GRCm39) |
Y319F |
probably damaging |
Het |
| Dcaf12 |
C |
T |
4: 41,296,310 (GRCm39) |
|
probably null |
Het |
| Dcc |
C |
A |
18: 71,503,773 (GRCm39) |
A942S |
probably benign |
Het |
| Dyrk1a |
A |
T |
16: 94,486,042 (GRCm39) |
D463V |
probably damaging |
Het |
| Eln |
T |
A |
5: 134,733,422 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,761,803 (GRCm39) |
|
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,512,900 (GRCm39) |
Y742C |
probably damaging |
Het |
| Furin |
G |
A |
7: 80,042,269 (GRCm39) |
T442I |
probably benign |
Het |
| Gli1 |
T |
C |
10: 127,172,961 (GRCm39) |
Q155R |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,538,179 (GRCm39) |
E218G |
probably benign |
Het |
| Grb10 |
C |
T |
11: 11,896,767 (GRCm39) |
V236M |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,310,009 (GRCm39) |
|
probably benign |
Het |
| Hgfac |
A |
T |
5: 35,204,564 (GRCm39) |
M579L |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,802,338 (GRCm39) |
D165E |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
| Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,333,774 (GRCm39) |
G1489D |
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,574 (GRCm39) |
S344C |
probably damaging |
Het |
| Lzts1 |
G |
A |
8: 69,593,500 (GRCm39) |
R36* |
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,408,681 (GRCm39) |
|
probably benign |
Het |
| Meis3 |
T |
A |
7: 15,912,722 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
A |
6: 113,217,267 (GRCm39) |
C60S |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,296,579 (GRCm39) |
Y789F |
probably damaging |
Het |
| Nup54 |
G |
A |
5: 92,565,398 (GRCm39) |
Q440* |
probably null |
Het |
| Ogdhl |
T |
G |
14: 32,067,131 (GRCm39) |
M861R |
probably damaging |
Het |
| Or13c7b |
T |
C |
4: 43,821,289 (GRCm39) |
E24G |
possibly damaging |
Het |
| Or4d10 |
G |
T |
19: 12,051,251 (GRCm39) |
H248Q |
possibly damaging |
Het |
| Or4k42 |
C |
T |
2: 111,320,180 (GRCm39) |
A108T |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,743 (GRCm39) |
H61L |
possibly damaging |
Het |
| Or6c69b |
A |
G |
10: 129,626,660 (GRCm39) |
V266A |
probably benign |
Het |
| Pde6c |
A |
G |
19: 38,145,948 (GRCm39) |
K412R |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,778,595 (GRCm39) |
I760L |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,691,590 (GRCm39) |
N378D |
probably benign |
Het |
| Prr14l |
G |
A |
5: 32,988,286 (GRCm39) |
A403V |
probably benign |
Het |
| Prrt3 |
T |
C |
6: 113,471,268 (GRCm39) |
D968G |
probably damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,869 (GRCm39) |
I401T |
possibly damaging |
Het |
| Ralyl |
T |
A |
3: 14,172,332 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,374,798 (GRCm39) |
E821G |
probably damaging |
Het |
| Serpinb3a |
T |
A |
1: 106,973,802 (GRCm39) |
I370F |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,870 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,951,615 (GRCm39) |
F381L |
probably benign |
Het |
| Strada |
A |
G |
11: 106,059,182 (GRCm39) |
Y199H |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,531 (GRCm39) |
I40T |
probably damaging |
Het |
| Tbx3 |
T |
C |
5: 119,816,877 (GRCm39) |
V358A |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,752,674 (GRCm39) |
L896S |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,882 (GRCm39) |
S883P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,818,190 (GRCm39) |
I496T |
possibly damaging |
Het |
| Unc79 |
C |
T |
12: 103,078,535 (GRCm39) |
R1548W |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,996,067 (GRCm39) |
M194V |
possibly damaging |
Het |
|
| Other mutations in Pex5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Pex5l
|
APN |
3 |
33,006,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Pex5l
|
APN |
3 |
33,069,110 (GRCm39) |
splice site |
probably null |
|
|
IGL01813:Pex5l
|
APN |
3 |
33,136,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02313:Pex5l
|
APN |
3 |
33,047,141 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02997:Pex5l
|
APN |
3 |
33,009,991 (GRCm39) |
splice site |
probably benign |
|
|
R0195:Pex5l
|
UTSW |
3 |
33,047,102 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0674:Pex5l
|
UTSW |
3 |
33,006,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Pex5l
|
UTSW |
3 |
33,008,685 (GRCm39) |
splice site |
probably benign |
|
|
R1500:Pex5l
|
UTSW |
3 |
33,069,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Pex5l
|
UTSW |
3 |
33,069,162 (GRCm39) |
nonsense |
probably null |
|
|
R1695:Pex5l
|
UTSW |
3 |
33,008,531 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1850:Pex5l
|
UTSW |
3 |
33,005,025 (GRCm39) |
splice site |
probably null |
|
|
R2165:Pex5l
|
UTSW |
3 |
33,007,281 (GRCm39) |
splice site |
probably null |
|
|
R2679:Pex5l
|
UTSW |
3 |
33,136,201 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2880:Pex5l
|
UTSW |
3 |
33,047,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2881:Pex5l
|
UTSW |
3 |
33,047,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3766:Pex5l
|
UTSW |
3 |
33,061,327 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3780:Pex5l
|
UTSW |
3 |
33,004,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Pex5l
|
UTSW |
3 |
33,061,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Pex5l
|
UTSW |
3 |
33,069,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4285:Pex5l
|
UTSW |
3 |
33,061,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Pex5l
|
UTSW |
3 |
33,047,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4855:Pex5l
|
UTSW |
3 |
33,196,989 (GRCm39) |
splice site |
probably benign |
|
|
R4868:Pex5l
|
UTSW |
3 |
33,006,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Pex5l
|
UTSW |
3 |
33,009,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Pex5l
|
UTSW |
3 |
33,061,477 (GRCm39) |
splice site |
probably null |
|
|
R5223:Pex5l
|
UTSW |
3 |
33,012,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Pex5l
|
UTSW |
3 |
33,047,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Pex5l
|
UTSW |
3 |
33,006,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5829:Pex5l
|
UTSW |
3 |
33,060,139 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6731:Pex5l
|
UTSW |
3 |
33,012,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7180:Pex5l
|
UTSW |
3 |
33,078,840 (GRCm39) |
splice site |
probably null |
|
|
R7452:Pex5l
|
UTSW |
3 |
33,058,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7549:Pex5l
|
UTSW |
3 |
33,136,184 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7563:Pex5l
|
UTSW |
3 |
33,008,625 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7757:Pex5l
|
UTSW |
3 |
33,136,300 (GRCm39) |
start gained |
probably benign |
|
|
R8030:Pex5l
|
UTSW |
3 |
33,008,568 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8143:Pex5l
|
UTSW |
3 |
33,136,658 (GRCm39) |
start gained |
probably benign |
|
|
R8242:Pex5l
|
UTSW |
3 |
33,060,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Pex5l
|
UTSW |
3 |
33,007,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Pex5l
|
UTSW |
3 |
33,006,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9422:Pex5l
|
UTSW |
3 |
33,136,401 (GRCm39) |
start gained |
probably benign |
|
|
R9585:Pex5l
|
UTSW |
3 |
33,060,091 (GRCm39) |
missense |
probably benign |
|
|
R9654:Pex5l
|
UTSW |
3 |
33,010,827 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9711:Pex5l
|
UTSW |
3 |
33,136,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Pex5l
|
UTSW |
3 |
33,061,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation