Incidental Mutation 'IGL01710:Pex6'
ID |
104773 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pex6
|
Ensembl Gene |
ENSMUSG00000002763 |
Gene Name |
peroxisomal biogenesis factor 6 |
Synonyms |
D130055I09Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.858)
|
Stock # |
IGL01710
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
47022402-47036469 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 47036252 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002846
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002840]
[ENSMUST00000002846]
|
AlphaFold |
Q99LC9 |
PDB Structure |
Crystal Structure of Mouse Glycine N-Methyltransferase (Tetragonal Form) [X-RAY DIFFRACTION]
Crystal Structure of Mouse Glycine N-Methyltransferase (Monoclinic Form) [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000002840
|
SMART Domains |
Protein: ENSMUSP00000002840 Gene: ENSMUSG00000002763
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 |
probably benign
Transcript: ENSMUST00000002846
|
SMART Domains |
Protein: ENSMUSP00000002846 Gene: ENSMUSG00000002769
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_23
|
27 |
217 |
9e-11 |
PFAM |
Pfam:Methyltransf_31
|
56 |
224 |
1.3e-15 |
PFAM |
Pfam:Methyltransf_18
|
57 |
176 |
1.5e-15 |
PFAM |
Pfam:Methyltransf_25
|
61 |
169 |
1.4e-10 |
PFAM |
Pfam:Methyltransf_12
|
62 |
171 |
4e-12 |
PFAM |
Pfam:Methyltransf_11
|
62 |
173 |
2.4e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148872
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
G |
A |
18: 62,004,645 (GRCm39) |
T48I |
probably damaging |
Het |
Ccpg1 |
T |
C |
9: 72,904,723 (GRCm39) |
|
probably benign |
Het |
Chkb |
G |
A |
15: 89,310,843 (GRCm39) |
Q379* |
probably null |
Het |
Chst15 |
T |
A |
7: 131,872,236 (GRCm39) |
D15V |
probably benign |
Het |
Cntn4 |
G |
A |
6: 106,527,392 (GRCm39) |
V425I |
possibly damaging |
Het |
Cpa6 |
T |
A |
1: 10,395,497 (GRCm39) |
N390I |
probably damaging |
Het |
Efhd2 |
A |
G |
4: 141,587,872 (GRCm39) |
F193S |
probably damaging |
Het |
Ell3 |
T |
C |
2: 121,271,993 (GRCm39) |
H128R |
probably damaging |
Het |
Ercc5 |
T |
G |
1: 44,203,235 (GRCm39) |
L291V |
probably damaging |
Het |
Eva1c |
A |
G |
16: 90,701,235 (GRCm39) |
Y302C |
probably damaging |
Het |
Fmo3 |
A |
C |
1: 162,810,612 (GRCm39) |
L26R |
probably damaging |
Het |
Galntl6 |
T |
A |
8: 58,989,002 (GRCm39) |
D17V |
probably damaging |
Het |
Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
Gstt2 |
A |
G |
10: 75,669,579 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,233,114 (GRCm39) |
L221Q |
probably damaging |
Het |
Hoxa3 |
T |
C |
6: 52,147,554 (GRCm39) |
|
probably benign |
Het |
Kctd12b |
T |
C |
X: 152,472,479 (GRCm39) |
D70G |
probably damaging |
Het |
Kdm7a |
T |
A |
6: 39,152,320 (GRCm39) |
E125D |
probably benign |
Het |
Klk1b21 |
T |
A |
7: 43,755,919 (GRCm39) |
F249L |
probably benign |
Het |
Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
Nomo1 |
T |
A |
7: 45,687,980 (GRCm39) |
L82Q |
probably damaging |
Het |
Or5p58 |
G |
T |
7: 107,694,449 (GRCm39) |
F109L |
probably benign |
Het |
Papolg |
A |
T |
11: 23,814,026 (GRCm39) |
S718T |
probably damaging |
Het |
Pi4k2a |
T |
A |
19: 42,093,418 (GRCm39) |
L253Q |
probably damaging |
Het |
Prdx6b |
T |
A |
2: 80,123,490 (GRCm39) |
F100I |
probably damaging |
Het |
Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
Ptgfrn |
T |
C |
3: 100,980,404 (GRCm39) |
E312G |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,873,745 (GRCm39) |
I685V |
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,246,164 (GRCm39) |
E586G |
probably damaging |
Het |
Sez6l2 |
C |
A |
7: 126,567,388 (GRCm39) |
T841K |
probably damaging |
Het |
Slc25a17 |
A |
T |
15: 81,211,527 (GRCm39) |
L163* |
probably null |
Het |
Slc35f3 |
A |
T |
8: 127,115,900 (GRCm39) |
I276F |
probably benign |
Het |
Tcerg1l |
T |
A |
7: 137,996,789 (GRCm39) |
K149N |
possibly damaging |
Het |
Tex28 |
T |
A |
X: 73,195,939 (GRCm39) |
K278* |
probably null |
Het |
Tmprss9 |
A |
G |
10: 80,733,793 (GRCm39) |
|
probably benign |
Het |
Tnfaip8l1 |
A |
G |
17: 56,478,782 (GRCm39) |
K24R |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,321,455 (GRCm39) |
|
probably benign |
Het |
Uba1 |
C |
T |
X: 20,537,604 (GRCm39) |
T274I |
possibly damaging |
Het |
Ubr2 |
T |
C |
17: 47,254,335 (GRCm39) |
T1439A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,145,772 (GRCm39) |
D1523G |
possibly damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,788 (GRCm39) |
T90S |
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 |
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 |
R6227:Pex6
|
UTSW |
17 |
47,023,034 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Posted On |
2014-01-21 |