Incidental Mutation 'R2349:Pex13'
ID |
247401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex13
|
Ensembl Gene |
ENSMUSG00000020283 |
Gene Name |
peroxisomal biogenesis factor 13 |
Synonyms |
2610008O20Rik |
MMRRC Submission |
040331-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2349 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
23597283-23615883 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23605789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 147
(M147T)
|
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 damaging
Transcript: ENSMUST00000020523
AA Change: M147T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020523 Gene: ENSMUSG00000020283 AA Change: M147T
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
|
Meta Mutation Damage Score |
0.5686 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (34/34) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
Got1l1 |
T |
C |
8: 27,687,959 (GRCm39) |
T357A |
probably benign |
Het |
Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
probably benign |
Het |
|
Other mutations in Pex13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01527:Pex13
|
APN |
11 |
23,606,111 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCCTCATTCTCAGAGCC -3'
(R):5'- CATTTTCTTCTGGATATGGAGCC -3'
Sequencing Primer
(F):5'- AGAGCCTCTTCTTAAACCCATC -3'
(R):5'- TCTGGATATGGAGCCTACGGAAATTC -3'
|
Posted On |
2014-11-11 |