Incidental Mutation 'R5094:Pex13'
| ID |
387996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex13
|
| Ensembl Gene |
ENSMUSG00000020283 |
| Gene Name |
peroxisomal biogenesis factor 13 |
| Synonyms |
2610008O20Rik |
| MMRRC Submission |
042683-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5094 (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 23605441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
| 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: V263A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: V263A
| 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 |
0.0597 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
91% (40/44) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
G |
T |
15: 81,946,883 (GRCm39) |
G260V |
possibly damaging |
Het |
| Agap3 |
T |
C |
5: 24,656,319 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,709,296 (GRCm39) |
S1173P |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,532,033 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
G |
A |
15: 22,714,625 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,402,892 (GRCm39) |
K2274E |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,734,861 (GRCm39) |
|
probably benign |
Het |
| Chat |
T |
A |
14: 32,130,896 (GRCm39) |
I582F |
probably damaging |
Het |
| Chrnb4 |
T |
C |
9: 54,942,597 (GRCm39) |
I226V |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,981,730 (GRCm39) |
T139A |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,502,570 (GRCm39) |
F712S |
probably benign |
Het |
| Fgfr1 |
C |
T |
8: 26,060,181 (GRCm39) |
S524L |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,306 (GRCm39) |
E208G |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,375 (GRCm39) |
D706V |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,865,443 (GRCm39) |
V639D |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,007,893 (GRCm39) |
F1497S |
probably benign |
Het |
| Hunk |
A |
G |
16: 90,293,554 (GRCm39) |
D612G |
probably benign |
Het |
| Ifit3b |
T |
A |
19: 34,589,948 (GRCm39) |
S375T |
possibly damaging |
Het |
| Mucl1 |
A |
G |
15: 103,785,669 (GRCm39) |
S13P |
possibly damaging |
Het |
| Or5w12 |
C |
T |
2: 87,502,174 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,384 (GRCm39) |
Y149F |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,374,081 (GRCm39) |
Y78* |
probably null |
Het |
| Pfdn2 |
T |
A |
1: 171,184,067 (GRCm39) |
|
probably benign |
Het |
| Phip |
C |
T |
9: 82,753,897 (GRCm39) |
V1616I |
probably benign |
Het |
| Pigg |
A |
G |
5: 108,484,123 (GRCm39) |
S457G |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,810,044 (GRCm39) |
S97P |
probably benign |
Het |
| Slc22a6 |
T |
C |
19: 8,603,541 (GRCm39) |
L535P |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,315,624 (GRCm39) |
T548A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,291,211 (GRCm39) |
S346C |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,852,858 (GRCm39) |
|
probably null |
Het |
| Tlcd2 |
T |
C |
11: 75,360,640 (GRCm39) |
S228P |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,793,001 (GRCm39) |
L411P |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,611,872 (GRCm39) |
V170A |
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 |
|
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 |
|
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'- AAGTTCAGCACCAGGTTAATGTG -3'
(R):5'- TCTGAGAATGAGGACCTGTGGG -3'
Sequencing Primer
(F):5'- GCAAGCCTTACTTTGTTACA -3'
(R):5'- ACCTGTGGGCAGAAAGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation