Incidental Mutation 'R6731:Pex5l'
| ID | 530051 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Pex5l
|
|---|
| Ensembl Gene |
ENSMUSG00000027674 |
|---|
| Gene Name | peroxisomal biogenesis factor 5-like |
|---|
| Synonyms | Pex2, PXR2, TRIP8b, 1700016J08Rik |
|---|
| MMRRC Submission |
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.529)
|
|---|
| Stock # | R6731 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 32949408-33143247 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 32958798 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Isoleucine to Lysine
at position 320
(I320K)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108221]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078226
AA Change: I285K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: I285K
| 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: ENSMUST00000108221
AA Change: I14K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674
AA Change: I14K
| 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 damaging
Transcript: ENSMUST00000108224
AA Change: I261K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: I261K
| 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: I285K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: I285K
| 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 |
possibly damaging
Transcript: ENSMUST00000108226
AA Change: I237K
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: I237K
| 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 damaging
Transcript: ENSMUST00000192093
AA Change: I285K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: I285K
| 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: ENSMUST00000192259
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193289
AA Change: I320K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: I320K
| 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: I320K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: I320K
| 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: I320K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: I320K
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
|---|
| Validation Efficiency |
98% (47/48) |
|---|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921501E09Rik |
A |
G |
17: 33,066,226 |
V534A |
probably benign |
Het |
| Acta1 |
G |
A |
8: 123,893,217 |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 9,011,562 |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,326,092 |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 70,014,028 |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,654 |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,514,784 |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,836,888 |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 195,083,467 |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 111,890,044 |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,160,871 |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,310,438 |
|
probably null |
Het |
| Fgg |
T |
C |
3: 83,012,901 |
F329S |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,701,905 |
T179A |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,708,273 |
M559K |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,674,700 |
I449T |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 180,188,574 |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,206,189 |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,950,420 |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,888,492 |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,455,873 |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,599,934 |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,322,590 |
I1863L |
probably damaging |
Het |
| Os9 |
C |
T |
10: 127,098,543 |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,488,790 |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,413,476 |
R535H |
probably benign |
Het |
| Pgm1 |
T |
C |
5: 64,100,975 |
F101S |
probably benign |
Het |
| Poc1b |
T |
A |
10: 99,152,871 |
D207E |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,579,883 |
I460V |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,524,350 |
Q1623H |
possibly damaging |
Het |
| Rnf219 |
C |
T |
14: 104,479,474 |
V488I |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,778,296 |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,180,700 |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,810,737 |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 164,053,673 |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,305,078 |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,426,485 |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 89,243,964 |
M140K |
possibly damaging |
Het |
| Tox2 |
A |
G |
2: 163,320,377 |
Y354C |
probably damaging |
Het |
| Trim21 |
A |
T |
7: 102,559,212 |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,943,485 |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,955,640 |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,892 |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,717,538 |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,489,500 |
D36G |
probably damaging |
Het |
| Zfp729a |
C |
T |
13: 67,620,146 |
V655I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,911,649 |
V217E |
possibly 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 |
|
R3934:Pex5l
|
UTSW |
3 |
33007172 |
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 |
|
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 |
possibly damaging |
0.93 |
|
Z1177:Pex5l
|
UTSW |
3 |
33007159 |
missense |
probably damaging |
0.98 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCGACCCATTTCCCATC -3'
(R):5'- GAAGATTCTCGTGCTGCTGAG -3'
Sequencing Primer
(F):5'- GAGCGACCCATTTCCCATCAATTAC -3'
(R):5'- TCGTGCTGCTGAGCCTCTG -3'
|
|---|
| Posted On | 2018-08-01 |
|---|
