Incidental Mutation 'R4563:Pex14'
| ID |
343188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex14
|
| Ensembl Gene |
ENSMUSG00000028975 |
| Gene Name |
peroxisomal biogenesis factor 14 |
| Synonyms |
Pex14p |
| MMRRC Submission |
041788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149044992-149184300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 149126225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 41
(V41D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103217]
[ENSMUST00000134747]
|
| AlphaFold |
Q9R0A0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103217
AA Change: V41D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099506
Gene: ENSMUSG00000028975
AA Change: V41D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex14_N
|
25 |
135 |
9.8e-25 |
PFAM |
|
coiled coil region
|
163 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
262 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128067
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134747
AA Change: V41D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116791
Gene: ENSMUSG00000028975
AA Change: V41D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pex14_N
|
25 |
66 |
2.5e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154860
|
| Meta Mutation Damage Score |
0.9200 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this locus results in embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
| Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
| Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
| Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
| Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
| G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
| Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
| Kdm7a |
C |
T |
6: 39,129,757 (GRCm39) |
R473Q |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
| Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
| Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
| Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
| Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
| Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
| Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
| Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
| Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
| Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
| Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
| Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
| Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
| Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
| Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
probably damaging |
Het |
|
| Other mutations in Pex14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02377:Pex14
|
APN |
4 |
149,050,743 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0563:Pex14
|
UTSW |
4 |
149,046,003 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1435:Pex14
|
UTSW |
4 |
149,047,984 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1508:Pex14
|
UTSW |
4 |
149,052,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2844:Pex14
|
UTSW |
4 |
149,047,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4204:Pex14
|
UTSW |
4 |
149,047,984 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4433:Pex14
|
UTSW |
4 |
149,045,967 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4584:Pex14
|
UTSW |
4 |
149,055,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4587:Pex14
|
UTSW |
4 |
149,048,021 (GRCm39) |
intron |
probably benign |
|
|
R4667:Pex14
|
UTSW |
4 |
149,068,542 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5646:Pex14
|
UTSW |
4 |
149,045,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6175:Pex14
|
UTSW |
4 |
149,046,156 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0025:Pex14
|
UTSW |
4 |
149,115,740 (GRCm39) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTAGTCAGCACCTGTCTC -3'
(R):5'- TCAGATCCAGGGAAGGACTC -3'
Sequencing Primer
(F):5'- CTGGTGTGATTTCCACCTGC -3'
(R):5'- AGAGCCTAGCCTGCTGTTGAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation