Incidental Mutation 'R5398:Pex5l'
| ID |
429788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex5l
|
| Ensembl Gene |
ENSMUSG00000027674 |
| Gene Name |
peroxisomal biogenesis factor 5-like |
| Synonyms |
PXR2, TRIP8b, Pex2, 1700016J08Rik |
| MMRRC Submission |
042969-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R5398 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33006639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 577
(I577F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108221]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193681]
[ENSMUST00000193289]
[ENSMUST00000194016]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078226
AA Change: I542F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: I542F
| 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: I271F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674
AA Change: I271F
| 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: I518F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: I518F
| 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: I542F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: I542F
| 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: I494F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: I494F
| 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: I542F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: I542F
| 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: ENSMUST00000193681
AA Change: I577F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: I577F
| 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: ENSMUST00000193289
AA Change: I577F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: I577F
| 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: I577F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: I577F
| 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 |
0.6441 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
95% (59/62) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
| Adam34 |
A |
C |
8: 44,104,278 (GRCm39) |
C456G |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,232,820 (GRCm39) |
D709G |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
| Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,613 (GRCm39) |
|
probably benign |
Het |
| Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
| Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
| Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
| Ociad1 |
T |
A |
5: 73,467,755 (GRCm39) |
V231E |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
| Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
| Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,761,638 (GRCm39) |
I289V |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,055,443 (GRCm39) |
T176A |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
| Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
| Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
| Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
| Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
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 |
|
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 |
|
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 |
|
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'- ACTTGTTTGTTTTGCCAAGCAG -3'
(R):5'- GGAACCCTACCACAGTGTTC -3'
Sequencing Primer
(F):5'- ACCTTCCACAGCAGTTTTACCAG -3'
(R):5'- CAGTGTTCCTGGAGATTAAAGAGCTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation