Incidental Mutation 'R3769:Pex6'
| ID |
273192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex6
|
| Ensembl Gene |
ENSMUSG00000002763 |
| Gene Name |
peroxisomal biogenesis factor 6 |
| Synonyms |
D130055I09Rik |
| MMRRC Submission |
040746-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.864)
|
| Stock # |
R3769 (G1)
|
| Quality Score |
102 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47022402-47036469 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1279 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 47035311 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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
98% (47/48) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
| Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
| Ccer1 |
G |
A |
10: 97,530,414 (GRCm39) |
G359E |
probably damaging |
Het |
| Cdkal1 |
T |
C |
13: 29,736,386 (GRCm39) |
|
probably null |
Het |
| Celf1 |
T |
C |
2: 90,828,993 (GRCm39) |
V20A |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,828,950 (GRCm39) |
T318I |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,267,396 (GRCm39) |
D159G |
probably damaging |
Het |
| Chst5 |
T |
A |
8: 112,616,513 (GRCm39) |
D369V |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
| Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,156,808 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm39) |
|
probably null |
Het |
| Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
| Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
| Gm7964 |
T |
A |
7: 83,405,338 (GRCm39) |
V76D |
probably damaging |
Het |
| Gm826 |
A |
G |
2: 160,169,165 (GRCm39) |
V48A |
unknown |
Het |
| Hoxb5 |
A |
G |
11: 96,194,795 (GRCm39) |
D119G |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,385,802 (GRCm39) |
V255A |
possibly damaging |
Het |
| Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
| Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
| Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
| Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
| Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
| Polr2c |
G |
A |
8: 95,586,928 (GRCm39) |
A65T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
| Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
| Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
| Sh3rf3 |
A |
G |
10: 58,820,013 (GRCm39) |
T275A |
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,245,714 (GRCm39) |
I155N |
possibly damaging |
Het |
| Slco1a4 |
A |
G |
6: 141,785,357 (GRCm39) |
Y78H |
probably damaging |
Het |
| Snx15 |
T |
A |
19: 6,173,984 (GRCm39) |
|
probably benign |
Het |
| Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,375,750 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,092,766 (GRCm39) |
V157A |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,000 (GRCm39) |
Y446C |
probably damaging |
Het |
| Vps51 |
T |
C |
19: 6,126,378 (GRCm39) |
T125A |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,532 (GRCm39) |
H20R |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,546 (GRCm39) |
I298F |
probably damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,984,035 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTTCTAGTTCAGAGCTAG -3'
(R):5'- TGTTAGGGCTGCCAACCATG -3'
Sequencing Primer
(F):5'- CCTTCTAGTTCAGAGCTAGAAGGG -3'
(R):5'- CTGCCAACCATGAGAGGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation