Incidental Mutation 'R0729:Pex5l'
ID |
67364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex5l
|
Ensembl Gene |
ENSMUSG00000027674 |
Gene Name |
peroxisomal biogenesis factor 5-like |
Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
MMRRC Submission |
038910-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.604)
|
Stock # |
R0729 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 33008685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108221]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000194016]
[ENSMUST00000193289]
[ENSMUST00000193681]
|
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: ENSMUST00000108221
|
SMART Domains |
Protein: ENSMUSP00000103856 Gene: ENSMUSG00000027674
Domain | Start | End | E-Value | Type |
TPR
|
78 |
111 |
6.95e-4 |
SMART |
Blast:TPR
|
112 |
145 |
2e-14 |
BLAST |
TPR
|
192 |
225 |
3.19e-3 |
SMART |
TPR
|
226 |
259 |
3.47e-4 |
SMART |
TPR
|
260 |
293 |
1.1e-1 |
SMART |
|
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: 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 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 |
noncoding transcript
Transcript: ENSMUST00000192259
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.0%
|
Validation Efficiency |
97% (74/76) |
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 |
4933427D14Rik |
C |
A |
11: 72,050,281 (GRCm39) |
A828S |
probably benign |
Het |
Acsm3 |
T |
C |
7: 119,383,207 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
G |
A |
15: 11,255,769 (GRCm39) |
R446H |
possibly damaging |
Het |
Adgrb1 |
A |
G |
15: 74,420,398 (GRCm39) |
N849S |
probably damaging |
Het |
Ankra2 |
A |
G |
13: 98,408,235 (GRCm39) |
D228G |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,414,412 (GRCm39) |
V375A |
probably damaging |
Het |
Blvrb |
A |
G |
7: 27,147,555 (GRCm39) |
K5E |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,394,456 (GRCm39) |
N573D |
probably benign |
Het |
Calhm2 |
C |
A |
19: 47,121,356 (GRCm39) |
G271V |
possibly damaging |
Het |
Capn13 |
C |
T |
17: 73,629,064 (GRCm39) |
G581E |
probably damaging |
Het |
Capzb |
T |
C |
4: 139,016,288 (GRCm39) |
|
probably benign |
Het |
Casd1 |
T |
C |
6: 4,619,753 (GRCm39) |
|
probably benign |
Het |
Clca4b |
A |
G |
3: 144,634,111 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crx |
A |
G |
7: 15,605,058 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
T |
C |
19: 39,727,994 (GRCm39) |
|
probably benign |
Het |
Dcaf8 |
T |
A |
1: 172,000,221 (GRCm39) |
D126E |
probably benign |
Het |
Ddx31 |
T |
C |
2: 28,764,186 (GRCm39) |
I464T |
probably damaging |
Het |
Dhx32 |
G |
A |
7: 133,339,150 (GRCm39) |
T155I |
probably benign |
Het |
Elac2 |
C |
A |
11: 64,889,349 (GRCm39) |
P567T |
possibly damaging |
Het |
Fat4 |
A |
G |
3: 39,054,444 (GRCm39) |
|
probably benign |
Het |
Fh1 |
T |
G |
1: 175,442,383 (GRCm39) |
N156H |
probably damaging |
Het |
Gm10064 |
T |
C |
5: 122,835,584 (GRCm39) |
|
noncoding transcript |
Het |
Gm14137 |
A |
G |
2: 119,005,834 (GRCm39) |
E131G |
probably benign |
Het |
Gpr22 |
T |
A |
12: 31,759,312 (GRCm39) |
K233M |
probably damaging |
Het |
Gpr63 |
A |
G |
4: 25,007,480 (GRCm39) |
N68S |
probably benign |
Het |
Gypa |
C |
T |
8: 81,223,421 (GRCm39) |
P66S |
unknown |
Het |
Htr2a |
A |
T |
14: 74,879,587 (GRCm39) |
Q72L |
probably benign |
Het |
Klhdc7b |
C |
T |
15: 89,271,598 (GRCm39) |
R827* |
probably null |
Het |
Leo1 |
G |
A |
9: 75,364,420 (GRCm39) |
R520Q |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,757 (GRCm39) |
M429V |
probably benign |
Het |
Lrrc74a |
C |
T |
12: 86,792,353 (GRCm39) |
Q225* |
probably null |
Het |
Mamdc4 |
T |
A |
2: 25,460,048 (GRCm39) |
N68Y |
probably damaging |
Het |
Map3k10 |
G |
A |
7: 27,360,992 (GRCm39) |
P507L |
probably damaging |
Het |
Methig1 |
T |
A |
15: 100,272,870 (GRCm39) |
C68S |
probably benign |
Het |
Metrn |
C |
T |
17: 26,015,202 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
C |
T |
9: 7,358,290 (GRCm39) |
T392I |
possibly damaging |
Het |
Mss51 |
A |
T |
14: 20,533,160 (GRCm39) |
I437N |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,014,097 (GRCm39) |
T297A |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,722,243 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
G |
A |
10: 30,567,575 (GRCm39) |
P319S |
probably benign |
Het |
Nlrp4d |
A |
T |
7: 10,111,612 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
G |
11: 58,923,535 (GRCm39) |
S6455P |
probably damaging |
Het |
Or5b97 |
T |
C |
19: 12,878,259 (GRCm39) |
N295S |
probably damaging |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Pcdh12 |
A |
G |
18: 38,415,517 (GRCm39) |
I536T |
probably benign |
Het |
Pla2g2e |
A |
C |
4: 138,608,046 (GRCm39) |
K43Q |
possibly damaging |
Het |
Rasa4 |
T |
C |
5: 136,130,924 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,328,234 (GRCm39) |
R1079W |
probably damaging |
Het |
Sez6 |
A |
G |
11: 77,867,411 (GRCm39) |
T803A |
probably benign |
Het |
Shcbp1 |
T |
A |
8: 4,786,297 (GRCm39) |
N602Y |
probably benign |
Het |
Slc16a13 |
G |
A |
11: 70,109,857 (GRCm39) |
P215S |
probably damaging |
Het |
Slc39a6 |
T |
C |
18: 24,734,527 (GRCm39) |
Q54R |
probably benign |
Het |
Smg1 |
C |
A |
7: 117,745,512 (GRCm39) |
|
probably benign |
Het |
Spg7 |
A |
G |
8: 123,797,156 (GRCm39) |
N110D |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,060,902 (GRCm39) |
S2010T |
probably damaging |
Het |
Sun1 |
T |
A |
5: 139,223,619 (GRCm39) |
|
probably benign |
Het |
Sytl5 |
A |
G |
X: 9,860,736 (GRCm39) |
E717G |
probably damaging |
Het |
Tle1 |
A |
T |
4: 72,044,679 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,985,060 (GRCm39) |
S179P |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,965,153 (GRCm39) |
F1549L |
probably benign |
Het |
Ubr4 |
A |
T |
4: 139,212,631 (GRCm39) |
Y5063F |
possibly damaging |
Het |
Uroc1 |
T |
A |
6: 90,313,937 (GRCm39) |
Y75N |
probably damaging |
Het |
Vmn2r70 |
T |
C |
7: 85,215,112 (GRCm39) |
T141A |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,868,931 (GRCm39) |
K3128E |
probably damaging |
Het |
Wdr26 |
T |
C |
1: 181,013,470 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
A |
8: 33,738,946 (GRCm39) |
|
probably null |
Het |
Zfp106 |
C |
T |
2: 120,385,729 (GRCm39) |
V13M |
probably damaging |
Het |
Zfp456 |
G |
A |
13: 67,514,663 (GRCm39) |
H348Y |
probably damaging |
Het |
Zfpm1 |
G |
A |
8: 123,063,398 (GRCm39) |
R819H |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCGTGAGGACAACCTGTCAACTG -3'
(R):5'- TCTGCAAAATGCTGTCTAGCCTTCC -3'
Sequencing Primer
(F):5'- CAACCTGTCAACTGGGGATTTAG -3'
(R):5'- tcacaaccatcaataactccatttc -3'
|
Posted On |
2013-09-03 |