Incidental Mutation 'IGL01621:Pex5l'
ID |
92618 |
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 # |
IGL01621
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
T to C
at 33069110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
[ENSMUST00000192093]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000122716
|
Predicted Effect |
probably null
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 null
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 null
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 |
|
Predicted Effect |
probably null
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 |
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
T |
5: 64,055,726 (GRCm39) |
T154I |
possibly damaging |
Het |
4933434E20Rik |
T |
A |
3: 89,971,809 (GRCm39) |
M56K |
possibly damaging |
Het |
Abca6 |
A |
G |
11: 110,075,534 (GRCm39) |
L1319S |
probably damaging |
Het |
Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
Aloxe3 |
A |
G |
11: 69,020,839 (GRCm39) |
N188S |
probably benign |
Het |
Ap1s1 |
G |
A |
5: 137,070,658 (GRCm39) |
R119* |
probably null |
Het |
Apc2 |
T |
G |
10: 80,142,035 (GRCm39) |
L318R |
probably damaging |
Het |
Atg101 |
A |
G |
15: 101,184,976 (GRCm39) |
S33G |
possibly damaging |
Het |
Atp8a2 |
A |
T |
14: 60,253,317 (GRCm39) |
|
probably benign |
Het |
Bpifb9b |
C |
A |
2: 154,158,871 (GRCm39) |
|
probably null |
Het |
Braf |
A |
T |
6: 39,623,787 (GRCm39) |
|
probably benign |
Het |
Cabp5 |
A |
G |
7: 13,135,189 (GRCm39) |
D43G |
probably damaging |
Het |
Cfap46 |
T |
C |
7: 139,186,523 (GRCm39) |
N2462S |
unknown |
Het |
Cit |
C |
T |
5: 116,130,662 (GRCm39) |
|
probably benign |
Het |
Cpa4 |
T |
C |
6: 30,574,415 (GRCm39) |
V68A |
probably damaging |
Het |
Cyp2j5 |
T |
C |
4: 96,517,791 (GRCm39) |
I474V |
probably benign |
Het |
Dennd1a |
C |
A |
2: 37,734,821 (GRCm39) |
D49Y |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,198,289 (GRCm39) |
D1525G |
probably damaging |
Het |
Dnajc18 |
C |
T |
18: 35,813,893 (GRCm39) |
R292H |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,140,897 (GRCm39) |
|
probably null |
Het |
E2f6 |
A |
G |
12: 16,875,369 (GRCm39) |
D268G |
probably benign |
Het |
Evi2b |
T |
A |
11: 79,407,126 (GRCm39) |
T150S |
probably damaging |
Het |
F13b |
A |
G |
1: 139,431,589 (GRCm39) |
D53G |
probably benign |
Het |
Fbxo38 |
G |
A |
18: 62,655,595 (GRCm39) |
|
probably benign |
Het |
Flnb |
C |
T |
14: 7,950,470 (GRCm38) |
P2596L |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
Gm21759 |
A |
G |
5: 8,229,775 (GRCm39) |
|
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,759,283 (GRCm39) |
N597S |
probably benign |
Het |
Hcn3 |
G |
T |
3: 89,055,030 (GRCm39) |
S739Y |
probably damaging |
Het |
Ighv9-4 |
T |
A |
12: 114,263,612 (GRCm39) |
N107I |
probably damaging |
Het |
Inava |
C |
A |
1: 136,147,513 (GRCm39) |
A402S |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,446,211 (GRCm39) |
K738E |
probably benign |
Het |
Itga6 |
A |
T |
2: 71,656,000 (GRCm39) |
D308V |
probably benign |
Het |
Klf12 |
T |
C |
14: 100,260,585 (GRCm39) |
Y48C |
probably damaging |
Het |
Klhdc9 |
A |
G |
1: 171,186,384 (GRCm39) |
*351Q |
probably null |
Het |
Krt40 |
A |
T |
11: 99,433,694 (GRCm39) |
N97K |
probably damaging |
Het |
Lrit1 |
A |
C |
14: 36,782,112 (GRCm39) |
T262P |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,560,910 (GRCm39) |
Y411H |
probably damaging |
Het |
Mfsd4a |
A |
G |
1: 131,981,881 (GRCm39) |
S149P |
probably benign |
Het |
Minar2 |
A |
G |
18: 59,195,458 (GRCm39) |
M1V |
probably null |
Het |
Mipep |
A |
G |
14: 61,033,614 (GRCm39) |
|
probably benign |
Het |
Mslnl |
A |
G |
17: 25,962,641 (GRCm39) |
|
probably benign |
Het |
N4bp2 |
A |
T |
5: 65,948,267 (GRCm39) |
H299L |
probably damaging |
Het |
Nbn |
C |
T |
4: 15,965,221 (GRCm39) |
P190S |
probably benign |
Het |
Nos1 |
T |
A |
5: 118,083,949 (GRCm39) |
I1253N |
probably damaging |
Het |
Nup210 |
G |
T |
6: 91,007,099 (GRCm39) |
F572L |
probably damaging |
Het |
Or10k2 |
T |
C |
8: 84,268,247 (GRCm39) |
V158A |
probably benign |
Het |
Or1e30 |
T |
C |
11: 73,678,103 (GRCm39) |
F113S |
probably damaging |
Het |
Or2y11 |
T |
C |
11: 49,442,964 (GRCm39) |
L130P |
probably damaging |
Het |
P4htm |
T |
A |
9: 108,460,935 (GRCm39) |
E106V |
probably damaging |
Het |
Pcdhb20 |
C |
T |
18: 37,637,860 (GRCm39) |
H129Y |
possibly damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,514,490 (GRCm39) |
E240G |
probably benign |
Het |
Plcd1 |
T |
C |
9: 118,905,246 (GRCm39) |
N181S |
probably damaging |
Het |
Plekhg6 |
G |
T |
6: 125,349,062 (GRCm39) |
L412M |
probably damaging |
Het |
Ppp1r13b |
T |
A |
12: 111,801,526 (GRCm39) |
Q386L |
possibly damaging |
Het |
Pramel25 |
T |
C |
4: 143,520,502 (GRCm39) |
F85L |
probably benign |
Het |
Prpf40b |
A |
G |
15: 99,207,926 (GRCm39) |
|
probably benign |
Het |
Rdh11 |
C |
T |
12: 79,233,187 (GRCm39) |
|
probably null |
Het |
Ripor3 |
A |
T |
2: 167,839,172 (GRCm39) |
S110T |
probably damaging |
Het |
Sec24d |
G |
A |
3: 123,087,807 (GRCm39) |
|
probably null |
Het |
Secisbp2l |
T |
C |
2: 125,615,131 (GRCm39) |
S165G |
probably benign |
Het |
Shank1 |
C |
T |
7: 43,991,889 (GRCm39) |
A698V |
unknown |
Het |
Shank1 |
T |
C |
7: 44,001,023 (GRCm39) |
M914T |
unknown |
Het |
Slc22a3 |
T |
C |
17: 12,677,379 (GRCm39) |
Q263R |
probably benign |
Het |
Smc1a |
C |
A |
X: 150,819,125 (GRCm39) |
Q647K |
probably damaging |
Het |
Sohlh1 |
A |
G |
2: 25,736,873 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
C |
A |
7: 130,331,498 (GRCm39) |
T484K |
probably damaging |
Het |
Ubr4 |
G |
T |
4: 139,168,094 (GRCm39) |
E2825* |
probably null |
Het |
Wbp2nl |
G |
A |
15: 82,192,806 (GRCm39) |
M163I |
probably benign |
Het |
Zfp69 |
T |
A |
4: 120,788,697 (GRCm39) |
K206M |
probably damaging |
Het |
Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
probably 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 |
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 |
IGL02508:Pex5l
|
APN |
3 |
33,047,051 (GRCm39) |
splice site |
probably benign |
|
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 |
2013-12-09 |