Incidental Mutation 'IGL02992:Pex12'
| ID |
406982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pex12
|
| Ensembl Gene |
ENSMUSG00000018733 |
| Gene Name |
peroxisomal biogenesis factor 12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL02992
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83182757-83189849 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83188753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 81
(S81P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018875]
[ENSMUST00000018877]
[ENSMUST00000065692]
[ENSMUST00000108146]
[ENSMUST00000136369]
[ENSMUST00000175741]
[ENSMUST00000176518]
[ENSMUST00000176944]
[ENSMUST00000176374]
[ENSMUST00000176430]
|
| AlphaFold |
Q8VC48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018875
|
| SMART Domains |
Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
2.6e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
3.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
2.1e-40 |
PFAM |
|
Pfam:HEAT_2
|
124 |
219 |
1.4e-9 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
950 |
9.93e-56 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018877
AA Change: S81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018877
Gene: ENSMUSG00000018733
AA Change: S81P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex2_Pex12
|
26 |
267 |
3.1e-50 |
PFAM |
|
RING
|
304 |
342 |
3.14e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065692
|
| SMART Domains |
Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4.2e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.7e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
665 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
707 |
817 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
826 |
936 |
9.93e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083781
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108146
AA Change: S81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103781
Gene: ENSMUSG00000018733
AA Change: S81P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex2_Pex12
|
26 |
268 |
6.4e-52 |
PFAM |
|
RING
|
304 |
342 |
3.14e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136369
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175741
AA Change: S81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135145
Gene: ENSMUSG00000018733
AA Change: S81P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex2_Pex12
|
26 |
268 |
6.4e-52 |
PFAM |
|
RING
|
304 |
342 |
3.14e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176518
AA Change: S81P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135632
Gene: ENSMUSG00000018733
AA Change: S81P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex2_Pex12
|
26 |
268 |
6.4e-52 |
PFAM |
|
RING
|
304 |
342 |
3.14e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177533
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176016
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176944
|
| SMART Domains |
Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
199 |
3.4e-67 |
PFAM |
|
Pfam:DNA_alkylation
|
18 |
196 |
4.6e-8 |
PFAM |
|
Pfam:HEAT_2
|
88 |
185 |
3.1e-13 |
PFAM |
|
Pfam:Cnd1
|
99 |
198 |
4.2e-27 |
PFAM |
|
Pfam:HEAT
|
122 |
151 |
1.4e-5 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176430
|
| SMART Domains |
Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Adaptin_N
|
10 |
534 |
4e-173 |
PFAM |
|
Pfam:HEAT_2
|
88 |
157 |
2.8e-8 |
PFAM |
|
Pfam:Cnd1
|
99 |
268 |
1.5e-37 |
PFAM |
|
low complexity region
|
625 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
675 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
721 |
831 |
2.94e-18 |
SMART |
|
B2-adapt-app_C
|
840 |
936 |
7.22e-35 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,921,935 (GRCm39) |
K1164E |
probably damaging |
Het |
| Arhgap42 |
G |
A |
9: 8,998,249 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,910,373 (GRCm39) |
D612G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,532,486 (GRCm39) |
D309G |
probably benign |
Het |
| Daw1 |
T |
C |
1: 83,174,934 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
A |
17: 34,130,722 (GRCm39) |
C246S |
probably damaging |
Het |
| Dpp7 |
T |
C |
2: 25,244,589 (GRCm39) |
D264G |
possibly damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,137,074 (GRCm39) |
H1472L |
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,777,083 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
T |
G |
3: 87,166,773 (GRCm39) |
R73S |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,526,223 (GRCm39) |
D367G |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,076,095 (GRCm39) |
E654V |
probably damaging |
Het |
| Gm839 |
T |
A |
6: 89,189,509 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird2 |
A |
T |
5: 134,246,456 (GRCm39) |
M905L |
possibly damaging |
Het |
| Hoxb2 |
A |
T |
11: 96,243,910 (GRCm39) |
I174F |
probably damaging |
Het |
| Hrh3 |
A |
G |
2: 179,742,608 (GRCm39) |
V308A |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,217,613 (GRCm39) |
K47E |
probably benign |
Het |
| Irak3 |
A |
T |
10: 120,018,566 (GRCm39) |
Y61N |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,358,276 (GRCm39) |
E614G |
probably damaging |
Het |
| Lgals3 |
A |
T |
14: 47,622,982 (GRCm39) |
I214L |
probably benign |
Het |
| Msh4 |
G |
T |
3: 153,577,962 (GRCm39) |
T444K |
possibly damaging |
Het |
| Myh7b |
C |
A |
2: 155,463,330 (GRCm39) |
Q521K |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,359,536 (GRCm39) |
I567F |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,325,759 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
C |
T |
16: 3,771,887 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
A |
C |
8: 95,233,201 (GRCm39) |
E1353A |
possibly damaging |
Het |
| Nr1h3 |
T |
A |
2: 91,020,911 (GRCm39) |
I260F |
probably damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,010,894 (GRCm39) |
R1211Q |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,168,293 (GRCm39) |
K605E |
probably damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,382,708 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Pik3c2b |
C |
A |
1: 132,994,718 (GRCm39) |
Y227* |
probably null |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Prkg2 |
T |
G |
5: 99,172,365 (GRCm39) |
S117R |
probably benign |
Het |
| Prl3d2 |
A |
T |
13: 27,311,266 (GRCm39) |
E179D |
probably benign |
Het |
| Relch |
T |
A |
1: 105,647,189 (GRCm39) |
L684M |
possibly damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,626 (GRCm39) |
T1748A |
possibly damaging |
Het |
| Septin10 |
T |
C |
10: 59,028,000 (GRCm39) |
N107S |
possibly damaging |
Het |
| Smu1 |
T |
A |
4: 40,739,550 (GRCm39) |
N420I |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,726,445 (GRCm39) |
F835L |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,888,879 (GRCm39) |
D2164G |
probably damaging |
Het |
| Svbp |
A |
G |
4: 119,053,127 (GRCm39) |
E8G |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,883,899 (GRCm39) |
M519K |
probably damaging |
Het |
| Tspan12 |
A |
G |
6: 21,799,876 (GRCm39) |
|
probably null |
Het |
| Vps52 |
T |
C |
17: 34,177,324 (GRCm39) |
V122A |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,264,427 (GRCm39) |
Y458C |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,442,265 (GRCm39) |
D286E |
possibly damaging |
Het |
|
| Other mutations in Pex12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB006:Pex12
|
UTSW |
11 |
83,188,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Pex12
|
UTSW |
11 |
83,188,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0725:Pex12
|
UTSW |
11 |
83,188,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1839:Pex12
|
UTSW |
11 |
83,188,648 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2483:Pex12
|
UTSW |
11 |
83,188,455 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2932:Pex12
|
UTSW |
11 |
83,187,049 (GRCm39) |
missense |
probably benign |
|
|
R5430:Pex12
|
UTSW |
11 |
83,188,572 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5526:Pex12
|
UTSW |
11 |
83,187,090 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7135:Pex12
|
UTSW |
11 |
83,188,468 (GRCm39) |
missense |
probably benign |
|
|
R7929:Pex12
|
UTSW |
11 |
83,188,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9688:Pex12
|
UTSW |
11 |
83,189,257 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2016-08-02 |
Incidental Mutation