Incidental Mutation 'R8030:Pex5l'
| ID |
617877 |
| Institutional Source |
Beutler Lab
|
| 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: 0.604)
|
| Stock # |
R8030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
33003557-33197396 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33008568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 445
(I445F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078226]
[ENSMUST00000108221]
[ENSMUST00000108224]
[ENSMUST00000108225]
[ENSMUST00000108226]
[ENSMUST00000192093]
[ENSMUST00000193289]
[ENSMUST00000193681]
[ENSMUST00000194016]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078226
AA Change: I410F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: I410F
| 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: ENSMUST00000108221
AA Change: I139F
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674
AA Change: I139F
| 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 |
possibly damaging
Transcript: ENSMUST00000108224
AA Change: I386F
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: I386F
| 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 |
possibly damaging
Transcript: ENSMUST00000108225
AA Change: I410F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: I410F
| 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: I362F
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: I362F
| 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 |
possibly damaging
Transcript: ENSMUST00000192093
AA Change: I410F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: I410F
| 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: ENSMUST00000193289
AA Change: I445F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: I445F
| 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 |
possibly damaging
Transcript: ENSMUST00000193681
AA Change: I445F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: I445F
| 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 |
possibly damaging
Transcript: ENSMUST00000194016
AA Change: I445F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: I445F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,970 (GRCm39) |
S98P |
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,011,534 (GRCm39) |
V1170I |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,371,228 (GRCm39) |
T1786A |
probably damaging |
Het |
| Acmsd |
T |
C |
1: 127,676,898 (GRCm39) |
I141T |
possibly damaging |
Het |
| Akr1c12 |
A |
G |
13: 4,322,244 (GRCm39) |
V266A |
possibly damaging |
Het |
| Arhgef18 |
A |
T |
8: 3,489,600 (GRCm39) |
I311F |
probably damaging |
Het |
| Armc2 |
T |
A |
10: 41,842,738 (GRCm39) |
N355I |
possibly damaging |
Het |
| Armh1 |
T |
A |
4: 117,087,184 (GRCm39) |
K160N |
probably benign |
Het |
| Asic1 |
A |
T |
15: 99,592,722 (GRCm39) |
T236S |
possibly damaging |
Het |
| Avl9 |
T |
A |
6: 56,718,407 (GRCm39) |
D424E |
probably damaging |
Het |
| Cbfa2t2 |
A |
T |
2: 154,357,816 (GRCm39) |
Q197L |
probably damaging |
Het |
| Ccdc136 |
T |
C |
6: 29,417,141 (GRCm39) |
V654A |
probably benign |
Het |
| Cd177 |
C |
T |
7: 24,455,594 (GRCm39) |
W309* |
probably null |
Het |
| Cplane1 |
G |
T |
15: 8,259,787 (GRCm39) |
G2383V |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,588,386 (GRCm39) |
K182E |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,222,628 (GRCm39) |
S615T |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab14 |
A |
G |
4: 115,623,599 (GRCm39) |
Q390R |
probably benign |
Het |
| Eif4ebp2 |
G |
A |
10: 61,270,825 (GRCm39) |
A68V |
probably damaging |
Het |
| Fam81a |
A |
G |
9: 70,010,191 (GRCm39) |
S149P |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,095,839 (GRCm39) |
I193V |
possibly damaging |
Het |
| Flvcr2 |
T |
A |
12: 85,845,312 (GRCm39) |
V377D |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,946,756 (GRCm39) |
R185C |
possibly damaging |
Het |
| Gucy1b2 |
C |
T |
14: 62,630,319 (GRCm39) |
S809N |
probably benign |
Het |
| H60b |
T |
A |
10: 22,163,020 (GRCm39) |
N198K |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,689 (GRCm39) |
F643Y |
possibly damaging |
Het |
| Kash5 |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC |
7: 44,837,608 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,526,629 (GRCm39) |
V846A |
probably benign |
Het |
| Kirrel1 |
C |
A |
3: 87,005,082 (GRCm39) |
G89W |
probably damaging |
Het |
| Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
| Mb21d2 |
A |
G |
16: 28,646,555 (GRCm39) |
F473S |
probably damaging |
Het |
| Mcrip2 |
G |
A |
17: 26,083,306 (GRCm39) |
Q111* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,248,724 (GRCm39) |
Y741H |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,135 (GRCm39) |
I544T |
probably damaging |
Het |
| Nav1 |
T |
C |
1: 135,464,977 (GRCm39) |
E276G |
probably damaging |
Het |
| Nr2f1 |
T |
C |
13: 78,343,565 (GRCm39) |
N233S |
probably benign |
Het |
| Nrip2 |
A |
T |
6: 128,383,484 (GRCm39) |
D124V |
possibly damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,586 (GRCm39) |
V43I |
probably benign |
Het |
| Or8k16 |
T |
A |
2: 85,520,063 (GRCm39) |
C97S |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,952,282 (GRCm39) |
A250S |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,208,964 (GRCm39) |
L149P |
probably damaging |
Het |
| Pigc |
T |
C |
1: 161,798,116 (GRCm39) |
F33L |
probably damaging |
Het |
| Pkp2 |
A |
T |
16: 16,064,774 (GRCm39) |
M433L |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,969,776 (GRCm39) |
|
probably null |
Het |
| Rd3l |
A |
G |
12: 111,946,584 (GRCm39) |
L64P |
possibly damaging |
Het |
| Rnf220 |
A |
G |
4: 117,135,025 (GRCm39) |
Y409H |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,082,938 (GRCm39) |
T567A |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,587,371 (GRCm39) |
I477T |
probably damaging |
Het |
| Sltm |
C |
T |
9: 70,493,261 (GRCm39) |
R753* |
probably null |
Het |
| Specc1l |
T |
A |
10: 75,084,389 (GRCm39) |
M687K |
probably damaging |
Het |
| Spock3 |
T |
G |
8: 63,805,232 (GRCm39) |
C338G |
probably damaging |
Het |
| Ssh2 |
C |
A |
11: 77,345,332 (GRCm39) |
Q1106K |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,326,146 (GRCm39) |
M251V |
not run |
Het |
| Tdrd5 |
C |
A |
1: 156,098,165 (GRCm39) |
E711* |
probably null |
Het |
| Thop1 |
T |
C |
10: 80,911,450 (GRCm39) |
M112T |
possibly damaging |
Het |
| Tln1 |
C |
T |
4: 43,535,737 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
C |
5: 111,433,922 (GRCm39) |
I2319L |
possibly damaging |
Het |
| Ttll11 |
A |
G |
2: 35,792,685 (GRCm39) |
I386T |
probably damaging |
Het |
| Txndc8 |
T |
C |
4: 57,984,178 (GRCm39) |
E151G |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,855 (GRCm39) |
E533G |
probably damaging |
Het |
| Zscan4f |
A |
G |
7: 11,135,290 (GRCm39) |
H232R |
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 |
|
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 |
|
|
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'- TGGCCATCATGCTGGTTATG -3'
(R):5'- AAAACACTCTTTGGTCTGGGTTTTC -3'
Sequencing Primer
(F):5'- ACACCAGCCTGTAACTGTGTG -3'
(R):5'- TGGGTTTTCATTTGAAGAAATAAAGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation