Incidental Mutation 'R8034:Pex6'
ID |
618154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pex6
|
Ensembl Gene |
ENSMUSG00000002763 |
Gene Name |
peroxisomal biogenesis factor 6 |
Synonyms |
D130055I09Rik |
MMRRC Submission |
067471-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.858)
|
Stock # |
R8034 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
47022402-47036469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 47033325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Alanine
at position 616
(G616A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002840
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002840]
[ENSMUST00000002846]
|
AlphaFold |
Q99LC9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002840
AA Change: G616A
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000002840 Gene: ENSMUSG00000002763 AA Change: G616A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
A |
G |
7: 101,043,980 (GRCm39) |
T680A |
probably damaging |
Het |
Asb3 |
C |
A |
11: 31,031,554 (GRCm39) |
Y391* |
probably null |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc80 |
A |
G |
16: 44,943,238 (GRCm39) |
I783V |
probably damaging |
Het |
Ccnf |
A |
G |
17: 24,450,805 (GRCm39) |
V391A |
probably damaging |
Het |
Cd5l |
C |
A |
3: 87,273,271 (GRCm39) |
A80E |
possibly damaging |
Het |
Chmp2b |
A |
T |
16: 65,343,769 (GRCm39) |
M96K |
probably benign |
Het |
Cspg4b |
A |
T |
13: 113,479,045 (GRCm39) |
I1530F |
|
Het |
Dennd4a |
T |
C |
9: 64,795,850 (GRCm39) |
S725P |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,106,208 (GRCm39) |
N1843S |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,449,281 (GRCm39) |
F41L |
probably benign |
Het |
Eif3e |
A |
T |
15: 43,135,703 (GRCm39) |
M112K |
probably benign |
Het |
Faim |
T |
C |
9: 98,874,786 (GRCm39) |
V111A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,404,728 (GRCm39) |
E493G |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,819,699 (GRCm39) |
D5144G |
possibly damaging |
Het |
Fuz |
T |
C |
7: 44,545,684 (GRCm39) |
M1T |
probably null |
Het |
Ggcx |
T |
C |
6: 72,405,587 (GRCm39) |
V529A |
possibly damaging |
Het |
Gm7145 |
A |
T |
1: 117,913,894 (GRCm39) |
T259S |
probably benign |
Het |
Gria2 |
T |
G |
3: 80,709,006 (GRCm39) |
T59P |
probably damaging |
Het |
H2-Q10 |
A |
T |
17: 35,781,338 (GRCm39) |
I47F |
probably damaging |
Het |
Heatr6 |
A |
G |
11: 83,644,735 (GRCm39) |
N63D |
probably benign |
Het |
Ints7 |
CCGGATCG |
CCGGATCGGATCG |
1: 191,345,180 (GRCm39) |
|
probably null |
Het |
Ints7 |
GATCG |
GATCGTATCG |
1: 191,345,183 (GRCm39) |
|
probably null |
Het |
Lcn6 |
T |
A |
2: 25,566,883 (GRCm39) |
L19* |
probably null |
Het |
Lhcgr |
T |
C |
17: 89,049,784 (GRCm39) |
T581A |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,687,573 (GRCm39) |
I203T |
probably damaging |
Het |
Mctp1 |
G |
C |
13: 77,039,670 (GRCm39) |
L783F |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,291,921 (GRCm39) |
M29L |
probably damaging |
Het |
Npas3 |
T |
A |
12: 53,687,312 (GRCm39) |
I159N |
probably damaging |
Het |
Nup98 |
T |
C |
7: 101,794,930 (GRCm39) |
|
probably null |
Het |
Or4a39 |
A |
G |
2: 89,237,081 (GRCm39) |
V114A |
probably benign |
Het |
Or4m1 |
T |
C |
14: 50,558,023 (GRCm39) |
K90E |
probably damaging |
Het |
Or51h5 |
A |
T |
7: 102,577,773 (GRCm39) |
K313* |
probably null |
Het |
Or5b110-ps1 |
A |
G |
19: 13,260,215 (GRCm39) |
F69S |
probably damaging |
Het |
Or7d11 |
A |
G |
9: 19,966,301 (GRCm39) |
F35L |
probably benign |
Het |
Or8b41 |
T |
C |
9: 38,054,973 (GRCm39) |
Y176H |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,623,111 (GRCm39) |
S377G |
probably benign |
Het |
Pclo |
T |
A |
5: 14,571,214 (GRCm39) |
S200T |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,451,662 (GRCm39) |
H2211L |
possibly damaging |
Het |
Sec13 |
T |
C |
6: 113,712,050 (GRCm39) |
K95R |
probably benign |
Het |
Sema3c |
T |
C |
5: 17,932,480 (GRCm39) |
V661A |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
Sp140l2 |
T |
A |
1: 85,231,881 (GRCm39) |
T180S |
probably benign |
Het |
Sprr2h |
A |
T |
3: 92,294,120 (GRCm39) |
E61V |
unknown |
Het |
Tead3 |
A |
C |
17: 28,552,203 (GRCm39) |
V365G |
probably damaging |
Het |
Trpm7 |
T |
A |
2: 126,688,119 (GRCm39) |
N236I |
probably damaging |
Het |
Ubxn2b |
A |
G |
4: 6,191,167 (GRCm39) |
E13G |
probably benign |
Het |
Zfp639 |
C |
A |
3: 32,574,215 (GRCm39) |
A280E |
probably damaging |
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 |
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 |
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'- TTCCTGCACACCAAAGGCAG -3'
(R):5'- CCCTAGGGAGTTACACAAAAGGAC -3'
Sequencing Primer
(F):5'- AGCCATGCCAGACCTTGC -3'
(R):5'- TTACACAAAAGGACACATGGGTAG -3'
|
Posted On |
2020-01-23 |