Incidental Mutation 'PIT4494001:Pex7'
| ID |
556158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex7
|
| Ensembl Gene |
ENSMUSG00000020003 |
| Gene Name |
peroxisomal biogenesis factor 7 |
| Synonyms |
peroxisome biogenesis factor 7 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.564)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
122.008 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
19735836-19783420 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 19770469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020182]
[ENSMUST00000166511]
|
| AlphaFold |
P97865 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020182
|
| SMART Domains |
Protein: ENSMUSP00000020182
Gene: ENSMUSG00000020003
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
52 |
91 |
9.24e-4 |
SMART |
|
WD40
|
95 |
136 |
6.14e-9 |
SMART |
|
WD40
|
139 |
179 |
8.55e-8 |
SMART |
|
WD40
|
182 |
222 |
3.5e-4 |
SMART |
|
WD40
|
226 |
266 |
1.3e-7 |
SMART |
|
WD40
|
270 |
310 |
6.66e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166511
|
| SMART Domains |
Protein: ENSMUSP00000132996
Gene: ENSMUSG00000020003
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
52 |
91 |
9.24e-4 |
SMART |
|
WD40
|
113 |
153 |
8.55e-8 |
SMART |
|
WD40
|
156 |
196 |
3.5e-4 |
SMART |
|
WD40
|
200 |
240 |
1.3e-7 |
SMART |
|
WD40
|
244 |
284 |
6.66e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for mutations in this gene, are petite with cataracts and have delayed ossification and fertility defects. Additionally, mice have biochemical defects in plasmalogen biosynthesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
T |
A |
15: 75,990,272 (GRCm39) |
Q2203L |
probably benign |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
probably damaging |
Het |
|
| Other mutations in Pex7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01404:Pex7
|
APN |
10 |
19,770,557 (GRCm39) |
intron |
probably benign |
|
|
IGL02833:Pex7
|
APN |
10 |
19,770,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Pex7
|
APN |
10 |
19,769,990 (GRCm39) |
splice site |
probably benign |
|
|
IGL03164:Pex7
|
APN |
10 |
19,770,461 (GRCm39) |
intron |
probably benign |
|
|
plummage
|
UTSW |
10 |
19,770,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Pex7
|
UTSW |
10 |
19,780,331 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1136:Pex7
|
UTSW |
10 |
19,764,434 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2049:Pex7
|
UTSW |
10 |
19,770,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Pex7
|
UTSW |
10 |
19,745,078 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5632:Pex7
|
UTSW |
10 |
19,764,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6901:Pex7
|
UTSW |
10 |
19,736,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7561:Pex7
|
UTSW |
10 |
19,770,012 (GRCm39) |
nonsense |
probably null |
|
|
R8429:Pex7
|
UTSW |
10 |
19,770,074 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8775:Pex7
|
UTSW |
10 |
19,760,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8775-TAIL:Pex7
|
UTSW |
10 |
19,760,522 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9498:Pex7
|
UTSW |
10 |
19,762,859 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTTGGATCCCACTGAAAAC -3'
(R):5'- AGTTGCTAGCCGTTGACAC -3'
Sequencing Primer
(F):5'- GTTGGATCCCACTGAAAACAAATG -3'
(R):5'- GCCGTTGACACTGTTATAAAGAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation