Incidental Mutation 'R5727:Pex13'
| ID |
452563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex13
|
| Ensembl Gene |
ENSMUSG00000020283 |
| Gene Name |
peroxisomal biogenesis factor 13 |
| Synonyms |
2610008O20Rik |
| MMRRC Submission |
043190-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5727 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
23597283-23615883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23605705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 175
(I175T)
|
| 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: I175T
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: I175T
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
A |
14: 29,712,838 (GRCm39) |
L494M |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,994,111 (GRCm39) |
A5132S |
probably damaging |
Het |
| Cadps |
G |
A |
14: 12,486,525 (GRCm38) |
Q882* |
probably null |
Het |
| Cdhr2 |
G |
A |
13: 54,872,121 (GRCm39) |
V662M |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 117,309,907 (GRCm39) |
I350F |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,255,805 (GRCm39) |
F966V |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,232,883 (GRCm39) |
R704* |
probably null |
Het |
| Dnah11 |
A |
T |
12: 118,090,841 (GRCm39) |
F1034L |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,713,075 (GRCm39) |
V440A |
probably benign |
Het |
| Ehmt2 |
A |
T |
17: 35,125,008 (GRCm39) |
M11L |
possibly damaging |
Het |
| Eml2 |
C |
T |
7: 18,924,685 (GRCm39) |
H185Y |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,770 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
G |
14: 43,091,477 (GRCm39) |
N97T |
unknown |
Het |
| Gnb1 |
A |
G |
4: 155,639,559 (GRCm39) |
T263A |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ier5l |
A |
G |
2: 30,363,171 (GRCm39) |
C285R |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,097,747 (GRCm39) |
N1336D |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,122,219 (GRCm39) |
H2722R |
possibly damaging |
Het |
| Mdm2 |
A |
G |
10: 117,538,212 (GRCm39) |
M13T |
possibly damaging |
Het |
| Micall1 |
T |
A |
15: 79,014,678 (GRCm39) |
Y685N |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 4,053,302 (GRCm39) |
S884A |
possibly damaging |
Het |
| Nkiras2 |
A |
G |
11: 100,515,853 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oc90 |
T |
G |
15: 65,753,388 (GRCm39) |
R342S |
possibly damaging |
Het |
| Or11h23 |
C |
A |
14: 50,947,817 (GRCm39) |
T10K |
possibly damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,544 (GRCm39) |
L162P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,197 (GRCm39) |
R172* |
probably null |
Het |
| Or4p20 |
T |
A |
2: 88,253,791 (GRCm39) |
I193F |
probably benign |
Het |
| Or9s13 |
A |
G |
1: 92,547,900 (GRCm39) |
N91D |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
G |
T |
16: 35,784,467 (GRCm39) |
E507* |
probably null |
Het |
| Phf12 |
A |
G |
11: 77,914,370 (GRCm39) |
E604G |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,815 (GRCm39) |
|
probably null |
Het |
| Rragc |
T |
C |
4: 123,813,828 (GRCm39) |
Y141H |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,280 (GRCm39) |
V257A |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,102,674 (GRCm39) |
T80A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,188,630 (GRCm39) |
A826V |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,434,909 (GRCm39) |
S302R |
possibly damaging |
Het |
| Ube2o |
A |
T |
11: 116,430,496 (GRCm39) |
F1081I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,608 (GRCm39) |
I658V |
probably benign |
Het |
| Vwa3b |
T |
G |
1: 37,174,600 (GRCm39) |
L672V |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,715,411 (GRCm39) |
F417S |
possibly damaging |
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 |
|
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 |
|
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'- GGCCAAGATTTTGCTGAGTTAG -3'
(R):5'- TGGTTTGGGCTTTAACCGCC -3'
Sequencing Primer
(F):5'- AGTTAGTTGCCTGGTCCTCAGC -3'
(R):5'- GTAGATGATCTTCCTCCCAGTAGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation