Incidental Mutation 'R6227:Pex6'
| ID |
504434 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex6
|
| Ensembl Gene |
ENSMUSG00000002763 |
| Gene Name |
peroxisomal biogenesis factor 6 |
| Synonyms |
D130055I09Rik |
| MMRRC Submission |
044398-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.858)
|
| Stock # |
R6227 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47022402-47036469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47023034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 203
(D203E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002840]
|
| AlphaFold |
Q99LC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002840
AA Change: D203E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: D203E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
200 |
N/A |
INTRINSIC |
|
AAA
|
463 |
598 |
6.1e-7 |
SMART |
|
AAA
|
737 |
875 |
6e-24 |
SMART |
|
Blast:AAA
|
928 |
973 |
1e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144964
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,558,581 (GRCm39) |
|
probably null |
Het |
| Abca4 |
T |
A |
3: 121,930,743 (GRCm39) |
Y205* |
probably null |
Het |
| Adgrf1 |
A |
G |
17: 43,621,164 (GRCm39) |
D467G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,841 (GRCm39) |
D550G |
possibly damaging |
Het |
| Bicd1 |
T |
A |
6: 149,414,674 (GRCm39) |
Y462* |
probably null |
Het |
| Cfap97 |
T |
C |
8: 46,644,769 (GRCm39) |
|
probably null |
Het |
| Csf1r |
T |
A |
18: 61,258,900 (GRCm39) |
Y706* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,233,621 (GRCm39) |
D3443G |
probably benign |
Het |
| Fktn |
C |
T |
4: 53,731,136 (GRCm39) |
A96V |
probably benign |
Het |
| Inppl1 |
G |
A |
7: 101,473,506 (GRCm39) |
T1048M |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 114,976,097 (GRCm39) |
T1092A |
probably benign |
Het |
| Lactbl1 |
C |
A |
4: 136,365,229 (GRCm39) |
A527E |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,984,586 (GRCm39) |
A510T |
probably benign |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Naca |
T |
G |
10: 127,879,785 (GRCm39) |
|
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,423,883 (GRCm39) |
I51F |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,829,917 (GRCm39) |
Y216C |
probably damaging |
Het |
| Or6c69 |
T |
A |
10: 129,747,536 (GRCm39) |
T204S |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,783,862 (GRCm39) |
M1986K |
probably damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,029,876 (GRCm39) |
N119S |
probably benign |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Rusc1 |
T |
A |
3: 88,999,048 (GRCm39) |
T245S |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 22,026,095 (GRCm39) |
C378S |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,477,624 (GRCm39) |
|
probably benign |
Het |
| Tes3-ps |
T |
C |
13: 49,647,516 (GRCm39) |
C131R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,911,190 (GRCm39) |
E331G |
probably null |
Het |
| Tlr4 |
T |
C |
4: 66,758,832 (GRCm39) |
Y542H |
probably benign |
Het |
| Trf |
G |
A |
9: 103,107,504 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,748 (GRCm39) |
H234L |
probably benign |
Het |
| Zan |
T |
G |
5: 137,466,605 (GRCm39) |
R417S |
probably damaging |
Het |
| Zfp213 |
T |
C |
17: 23,776,996 (GRCm39) |
T349A |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pex6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01478:Pex6
|
APN |
17 |
47,036,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01601:Pex6
|
APN |
17 |
47,034,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01710:Pex6
|
APN |
17 |
47,036,252 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02392:Pex6
|
APN |
17 |
47,034,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Pex6
|
APN |
17 |
47,035,361 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
G5030:Pex6
|
UTSW |
17 |
47,026,382 (GRCm39) |
intron |
probably benign |
|
|
R0091:Pex6
|
UTSW |
17 |
47,022,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Pex6
|
UTSW |
17 |
47,034,663 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0732:Pex6
|
UTSW |
17 |
47,035,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Pex6
|
UTSW |
17 |
47,024,990 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1602:Pex6
|
UTSW |
17 |
47,023,063 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1638:Pex6
|
UTSW |
17 |
47,033,558 (GRCm39) |
missense |
probably benign |
|
|
R1757:Pex6
|
UTSW |
17 |
47,034,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3769:Pex6
|
UTSW |
17 |
47,035,311 (GRCm39) |
splice site |
probably null |
|
|
R4684:Pex6
|
UTSW |
17 |
47,023,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4731:Pex6
|
UTSW |
17 |
47,035,633 (GRCm39) |
splice site |
probably null |
|
|
R4731:Pex6
|
UTSW |
17 |
47,033,214 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4732:Pex6
|
UTSW |
17 |
47,033,214 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4732:Pex6
|
UTSW |
17 |
47,035,633 (GRCm39) |
splice site |
probably null |
|
|
R4733:Pex6
|
UTSW |
17 |
47,035,633 (GRCm39) |
splice site |
probably null |
|
|
R4733:Pex6
|
UTSW |
17 |
47,033,214 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4915:Pex6
|
UTSW |
17 |
47,024,982 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5996:Pex6
|
UTSW |
17 |
47,025,384 (GRCm39) |
splice site |
probably null |
|
|
R6156:Pex6
|
UTSW |
17 |
47,031,567 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7054:Pex6
|
UTSW |
17 |
47,031,447 (GRCm39) |
missense |
probably benign |
|
|
R7635:Pex6
|
UTSW |
17 |
47,034,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Pex6
|
UTSW |
17 |
47,033,325 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8177:Pex6
|
UTSW |
17 |
47,024,988 (GRCm39) |
missense |
probably benign |
|
|
R8330:Pex6
|
UTSW |
17 |
47,023,060 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8348:Pex6
|
UTSW |
17 |
47,034,039 (GRCm39) |
missense |
probably benign |
|
|
R8695:Pex6
|
UTSW |
17 |
47,022,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9263:Pex6
|
UTSW |
17 |
47,023,231 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9428:Pex6
|
UTSW |
17 |
47,022,991 (GRCm39) |
missense |
probably benign |
|
|
R9600:Pex6
|
UTSW |
17 |
47,035,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pex6
|
UTSW |
17 |
47,023,148 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCGCGAGTGTTGGAGAC -3'
(R):5'- GGCAGAAACACCAGTCCGTC -3'
Sequencing Primer
(F):5'- AGTGTTGGAGACGCGACC -3'
(R):5'- ACACCAGTCCGTCAGCGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation