Incidental Mutation 'R6837:Pex13'
| ID |
537905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex13
|
| Ensembl Gene |
ENSMUSG00000020283 |
| Gene Name |
peroxisomal biogenesis factor 13 |
| Synonyms |
2610008O20Rik |
| MMRRC Submission |
044945-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23597283-23615883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23599527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 328
(I328T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000020523
AA Change: I328T
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020523
Gene: ENSMUSG00000020283
AA Change: I328T
| 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 |
probably benign
Transcript: ENSMUST00000130811
|
| Meta Mutation Damage Score |
0.7077 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 53,188,045 (GRCm39) |
E1820K |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,814,511 (GRCm39) |
I116F |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,122,289 (GRCm39) |
D890G |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,034,279 (GRCm39) |
T396I |
possibly damaging |
Het |
| C2cd3 |
G |
C |
7: 100,097,953 (GRCm39) |
E594Q |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,382,579 (GRCm39) |
P477L |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,429,542 (GRCm39) |
D20N |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,570,947 (GRCm39) |
I109T |
probably benign |
Het |
| Fas |
A |
T |
19: 34,284,564 (GRCm39) |
T24S |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,874,832 (GRCm39) |
I2332F |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,291,375 (GRCm39) |
H32R |
probably benign |
Het |
| Gm57859 |
A |
G |
11: 113,579,439 (GRCm39) |
H278R |
possibly damaging |
Het |
| Hcfc2 |
A |
T |
10: 82,575,030 (GRCm39) |
I230F |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,337,463 (GRCm39) |
T673A |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,839,589 (GRCm39) |
N3366K |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,820,334 (GRCm39) |
N139D |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,136,928 (GRCm39) |
E632G |
possibly damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,294,407 (GRCm39) |
D98G |
probably damaging |
Het |
| Maip1 |
T |
A |
1: 57,454,891 (GRCm39) |
*292K |
probably null |
Het |
| Map2 |
T |
C |
1: 66,453,731 (GRCm39) |
F874L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,911,404 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 97,978,170 (GRCm39) |
|
probably null |
Het |
| Npy5r |
T |
A |
8: 67,134,392 (GRCm39) |
M134L |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,709,710 (GRCm39) |
M225K |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,847,527 (GRCm39) |
T634I |
probably damaging |
Het |
| Or51f1d |
T |
A |
7: 102,700,929 (GRCm39) |
Y141* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,416,448 (GRCm39) |
S1667G |
probably benign |
Het |
| Pkd2 |
T |
G |
5: 104,624,909 (GRCm39) |
L235W |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,156,292 (GRCm39) |
D66V |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,044 (GRCm39) |
N105S |
probably benign |
Het |
| Sla |
A |
T |
15: 66,658,939 (GRCm39) |
I144N |
probably damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,898,220 (GRCm39) |
I498N |
possibly damaging |
Het |
| Snx14 |
C |
T |
9: 88,262,276 (GRCm39) |
E872K |
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,795 (GRCm39) |
R242H |
probably benign |
Het |
| Tg |
T |
C |
15: 66,567,984 (GRCm39) |
F1296S |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,153,542 (GRCm39) |
T177M |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,194,038 (GRCm39) |
Q14R |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,176 (GRCm39) |
M309V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,817,504 (GRCm39) |
P1059S |
probably benign |
Het |
| Yars1 |
T |
A |
4: 129,103,544 (GRCm39) |
S298T |
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 |
|
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 |
|
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'- GCACTGGAAACCTTATTAGTTTCAAC -3'
(R):5'- ATTCCTTAACATAATCTCACTGTGAG -3'
Sequencing Primer
(F):5'- GTTTCAACAAAAACAGATTCAAAGGC -3'
(R):5'- CTTCCATTGATGATCGACAAGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation