Incidental Mutation 'IGL01527:Pex13'
| ID |
89616 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pex13
|
| Ensembl Gene |
ENSMUSG00000020283 |
| Gene Name |
peroxisomal biogenesis factor 13 |
| Synonyms |
2610008O20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
23597283-23615883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23606111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 40
(T40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020523]
[ENSMUST00000130811]
|
| AlphaFold |
Q9D0K1 |
| PDB Structure |
Solution structure of the SH3 domain of mouse peroxisomal biogenesis factor 13 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020523
AA Change: T40A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: T40A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
30 |
N/A |
INTRINSIC |
|
Pfam:Peroxin-13_N
|
101 |
256 |
3.6e-51 |
PFAM |
|
SH3
|
277 |
337 |
1.42e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124839
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146533
|
| 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 encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
PHENOTYPE: Targeted disruption of this gene results in intrauterine growth retardation, hypotonia, aphagia, abnormal lamination of the cerebral cortex associated with a neuronal migration defect, liver steatosis, delayed differentiation of renal glomeruli, impairedperoxisome metabolism, and neonatal death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
G |
T |
17: 35,878,730 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,240,788 (GRCm39) |
W884R |
possibly damaging |
Het |
| Ahi1 |
T |
C |
10: 20,835,984 (GRCm39) |
|
probably benign |
Het |
| Ankfn1 |
G |
T |
11: 89,282,465 (GRCm39) |
P394Q |
probably benign |
Het |
| Cacnb2 |
T |
C |
2: 14,989,081 (GRCm39) |
I393T |
possibly damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,778,880 (GRCm39) |
E269G |
probably damaging |
Het |
| Cyp24a1 |
A |
G |
2: 170,338,486 (GRCm39) |
L70P |
probably damaging |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,061 (GRCm39) |
K424E |
probably damaging |
Het |
| Dicer1 |
G |
A |
12: 104,657,869 (GRCm39) |
Q1902* |
probably null |
Het |
| Dst |
T |
A |
1: 34,286,734 (GRCm39) |
L544Q |
probably damaging |
Het |
| Esrp2 |
T |
C |
8: 106,858,865 (GRCm39) |
T591A |
probably benign |
Het |
| Gap43 |
C |
T |
16: 42,112,516 (GRCm39) |
E82K |
probably benign |
Het |
| Ift70a1 |
T |
C |
2: 75,810,860 (GRCm39) |
I408V |
probably benign |
Het |
| Kif17 |
G |
A |
4: 137,996,397 (GRCm39) |
V125I |
probably benign |
Het |
| Lancl2 |
T |
C |
6: 57,709,307 (GRCm39) |
S370P |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,386,953 (GRCm39) |
I203V |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,421,687 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,829,726 (GRCm39) |
I143V |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,690 (GRCm39) |
V199A |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,955,243 (GRCm39) |
N3890I |
possibly damaging |
Het |
| Or2g7 |
A |
G |
17: 38,378,986 (GRCm39) |
N308S |
probably benign |
Het |
| Or2h2c |
A |
T |
17: 37,422,701 (GRCm39) |
Y58N |
probably damaging |
Het |
| Or52n5 |
T |
A |
7: 104,588,198 (GRCm39) |
V155E |
possibly damaging |
Het |
| Or8g32 |
A |
G |
9: 39,305,114 (GRCm39) |
H6R |
probably benign |
Het |
| Palmd |
C |
A |
3: 116,720,837 (GRCm39) |
E166* |
probably null |
Het |
| Pdzd2 |
T |
C |
15: 12,445,750 (GRCm39) |
E327G |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,646,750 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,474,467 (GRCm39) |
T643A |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,329,257 (GRCm39) |
D577E |
probably benign |
Het |
| Rimoc1 |
T |
C |
15: 4,018,165 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,320,777 (GRCm39) |
C75R |
probably damaging |
Het |
| Susd6 |
A |
T |
12: 80,921,093 (GRCm39) |
N230I |
possibly damaging |
Het |
| Tbx10 |
A |
G |
19: 4,048,227 (GRCm39) |
R251G |
probably damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,816 (GRCm39) |
|
probably null |
Het |
| Ugt2b5 |
A |
G |
5: 87,284,068 (GRCm39) |
V308A |
possibly damaging |
Het |
| Usp28 |
C |
A |
9: 48,937,173 (GRCm39) |
H147Q |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,447 (GRCm39) |
I76T |
possibly damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,263,158 (GRCm39) |
I101T |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,601,006 (GRCm39) |
L768H |
probably damaging |
Het |
|
| Other mutations in Pex13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Pitch
|
UTSW |
11 |
23,605,949 (GRCm39) |
missense |
probably benign |
|
|
yaw
|
UTSW |
11 |
23,599,527 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0455:Pex13
|
UTSW |
11 |
23,605,949 (GRCm39) |
missense |
probably benign |
|
|
R0671:Pex13
|
UTSW |
11 |
23,615,831 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1454:Pex13
|
UTSW |
11 |
23,599,422 (GRCm39) |
missense |
probably benign |
|
|
R1738:Pex13
|
UTSW |
11 |
23,599,458 (GRCm39) |
missense |
probably benign |
|
|
R1830:Pex13
|
UTSW |
11 |
23,605,513 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2349:Pex13
|
UTSW |
11 |
23,605,789 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4688:Pex13
|
UTSW |
11 |
23,605,472 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5094:Pex13
|
UTSW |
11 |
23,605,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5727:Pex13
|
UTSW |
11 |
23,605,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6360:Pex13
|
UTSW |
11 |
23,605,690 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6837:Pex13
|
UTSW |
11 |
23,599,527 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6957:Pex13
|
UTSW |
11 |
23,605,628 (GRCm39) |
missense |
probably benign |
|
|
R7167:Pex13
|
UTSW |
11 |
23,605,472 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7880:Pex13
|
UTSW |
11 |
23,599,369 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7898:Pex13
|
UTSW |
11 |
23,600,929 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8000:Pex13
|
UTSW |
11 |
23,605,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Pex13
|
UTSW |
11 |
23,605,685 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9086:Pex13
|
UTSW |
11 |
23,615,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Pex13
|
UTSW |
11 |
23,605,630 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9415:Pex13
|
UTSW |
11 |
23,601,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9743:Pex13
|
UTSW |
11 |
23,606,119 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation