Incidental Mutation 'R3934:Pex5l'
| ID | 306927 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Pex5l
|
|---|
| Ensembl Gene |
ENSMUSG00000027674 |
|---|
| Gene Name | peroxisomal biogenesis factor 5-like |
|---|
| Synonyms | Pex2, PXR2, TRIP8b, 1700016J08Rik |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.520)
|
|---|
| Stock # | R3934 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 32949408-33143247 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 33007172 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Glutamic Acid to Glycine
at position 176
(E176G)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078226
AA Change: E141G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: E141G
| 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 damaging
Transcript: ENSMUST00000108224
AA Change: E116G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: E116G
| 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 damaging
Transcript: ENSMUST00000108225
AA Change: E141G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: E141G
| 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 damaging
Transcript: ENSMUST00000108226
AA Change: E93G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: E93G
| 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 damaging
Transcript: ENSMUST00000192093
AA Change: E141G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: E141G
| 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 damaging
Transcript: ENSMUST00000193289
AA Change: E176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: E176G
| 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 damaging
Transcript: ENSMUST00000193681
AA Change: E176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: E176G
| 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 damaging
Transcript: ENSMUST00000194016
AA Change: E176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: E176G
| 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 |
|
|---|
| Meta Mutation Damage Score |
0.1627
|
|---|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
|---|
| Validation Efficiency |
100% (40/40) |
|---|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,534,081 |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,200,434 |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,475,047 |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,801,912 |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,140,444 |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,205,954 |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 143,041,380 |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,634,287 |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,457,942 |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,787 |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,845,921 |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,442,259 |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,595,171 |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,045 |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,320,101 |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,380,484 |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,664,595 |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,611,411 |
T685M |
possibly damaging |
Het |
| Itih5 |
G |
A |
2: 10,245,544 |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,310,531 |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,893,008 |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,993,253 |
P54S |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,219,170 |
T724A |
probably benign |
Het |
| Polk |
A |
T |
13: 96,501,635 |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,476,101 |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,904,425 |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,681,940 |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,230,843 |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 53,108,218 |
T358I |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,434,363 |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,368,645 |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,713,504 |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,016,427 |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,370,738 |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,263,511 |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,315,669 |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,555,499 |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,008,014 |
G513C |
probably damaging |
Het |
|
|---|
| Other mutations in Pex5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01397:Pex5l
|
APN |
3 |
32952597 |
missense |
probably damaging |
1.00 |
|
IGL01621:Pex5l
|
APN |
3 |
33014961 |
splice site |
probably null |
|
|
IGL01813:Pex5l
|
APN |
3 |
33082055 |
missense |
probably benign |
0.02 |
|
IGL02313:Pex5l
|
APN |
3 |
32992992 |
missense |
probably benign |
0.22 |
|
IGL02508:Pex5l
|
APN |
3 |
32992902 |
splice site |
probably benign |
|
|
IGL02997:Pex5l
|
APN |
3 |
32955842 |
splice site |
probably benign |
|
|
R0195:Pex5l
|
UTSW |
3 |
32992953 |
missense |
possibly damaging |
0.87 |
|
R0674:Pex5l
|
UTSW |
3 |
32952616 |
missense |
probably damaging |
1.00 |
|
R0729:Pex5l
|
UTSW |
3 |
32954536 |
splice site |
probably benign |
|
|
R1500:Pex5l
|
UTSW |
3 |
33014980 |
missense |
probably damaging |
1.00 |
|
R1513:Pex5l
|
UTSW |
3 |
33015013 |
nonsense |
probably null |
|
|
R1695:Pex5l
|
UTSW |
3 |
32954382 |
missense |
probably benign |
0.28 |
|
R1850:Pex5l
|
UTSW |
3 |
32950876 |
splice site |
probably null |
|
|
R2165:Pex5l
|
UTSW |
3 |
32953132 |
synonymous |
probably null |
|
|
R2679:Pex5l
|
UTSW |
3 |
33082052 |
missense |
probably benign |
0.02 |
|
R2880:Pex5l
|
UTSW |
3 |
32993003 |
critical splice acceptor site |
probably null |
|
|
R2881:Pex5l
|
UTSW |
3 |
32993003 |
critical splice acceptor site |
probably null |
|
|
R3766:Pex5l
|
UTSW |
3 |
33007178 |
missense |
probably benign |
0.01 |
|
R3780:Pex5l
|
UTSW |
3 |
32950844 |
missense |
probably damaging |
1.00 |
|
R3975:Pex5l
|
UTSW |
3 |
33015015 |
missense |
probably damaging |
0.99 |
|
R4285:Pex5l
|
UTSW |
3 |
33007187 |
missense |
probably damaging |
1.00 |
|
R4825:Pex5l
|
UTSW |
3 |
32992985 |
missense |
probably damaging |
0.99 |
|
R4855:Pex5l
|
UTSW |
3 |
33142840 |
splice site |
probably benign |
|
|
R4868:Pex5l
|
UTSW |
3 |
32952490 |
missense |
probably damaging |
1.00 |
|
R5135:Pex5l
|
UTSW |
3 |
32955831 |
missense |
probably damaging |
1.00 |
|
R5217:Pex5l
|
UTSW |
3 |
33007328 |
splice site |
probably null |
|
|
R5223:Pex5l
|
UTSW |
3 |
32958796 |
missense |
probably damaging |
1.00 |
|
R5362:Pex5l
|
UTSW |
3 |
32992916 |
missense |
probably damaging |
1.00 |
|
R5398:Pex5l
|
UTSW |
3 |
32952490 |
missense |
probably damaging |
1.00 |
|
R5829:Pex5l
|
UTSW |
3 |
33005990 |
missense |
probably benign |
0.00 |
|
R6731:Pex5l
|
UTSW |
3 |
32958798 |
missense |
probably damaging |
1.00 |
|
R7180:Pex5l
|
UTSW |
3 |
33024691 |
splice site |
probably null |
|
|
R7452:Pex5l
|
UTSW |
3 |
33004318 |
missense |
probably benign |
0.02 |
|
R7549:Pex5l
|
UTSW |
3 |
33082035 |
missense |
probably benign |
0.04 |
|
R7563:Pex5l
|
UTSW |
3 |
32954476 |
missense |
probably damaging |
0.98 |
|
R7757:Pex5l
|
UTSW |
3 |
33082151 |
start gained |
probably benign |
|
|
R8030:Pex5l
|
UTSW |
3 |
32954419 |
missense |
not run |
|
|
Z1177:Pex5l
|
UTSW |
3 |
33007159 |
missense |
not run |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AGCCGAGCTTTTATGGCTAC -3'
(R):5'- CAGGAAGTAAATGGCTTCTCTTG -3'
Sequencing Primer
(F):5'- TTCCCAGCTTCCTGAAAGAG -3'
(R):5'- GCCTTCTTCTGTCTCCCATAGTG -3'
|
|---|
| Posted On | 2015-04-17 |
|---|
