Incidental Mutation 'R9263:Pex6'
| ID |
702395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pex6
|
| Ensembl Gene |
ENSMUSG00000002763 |
| Gene Name |
peroxisomal biogenesis factor 6 |
| Synonyms |
D130055I09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.858)
|
| Stock # |
R9263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47022402-47036469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47023231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002840]
|
| AlphaFold |
Q99LC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002840
AA Change: D269G
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002840
Gene: ENSMUSG00000002763
AA Change: D269G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c14 |
T |
C |
13: 4,113,620 (GRCm39) |
S51P |
probably damaging |
Het |
| Arhgef38 |
T |
G |
3: 132,866,529 (GRCm39) |
K203Q |
|
Het |
| Cacna1d |
G |
A |
14: 29,796,925 (GRCm39) |
R1517W |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,949 (GRCm39) |
M235K |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,372,149 (GRCm39) |
S1414P |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,602,891 (GRCm39) |
D395G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,358,945 (GRCm39) |
E255G |
probably benign |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Dnajb7 |
G |
A |
15: 81,292,266 (GRCm39) |
R24C |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,947,505 (GRCm39) |
W225L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,727,223 (GRCm39) |
V590D |
probably benign |
Het |
| Epcam |
A |
G |
17: 87,947,960 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,257,344 (GRCm39) |
Y341C |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,322,728 (GRCm39) |
L1040R |
probably damaging |
Het |
| Gm9639 |
C |
T |
10: 77,630,828 (GRCm39) |
C28Y |
unknown |
Het |
| Hsd17b7 |
A |
G |
1: 169,794,833 (GRCm39) |
S69P |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,469,867 (GRCm39) |
D1445E |
probably damaging |
Het |
| Kmt2d |
TGCTGCTGCTGCTGCTGCTGG |
TG |
15: 98,747,499 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
T |
C |
19: 3,654,190 (GRCm39) |
Y1079C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,457,467 (GRCm39) |
D779G |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Pacsin1 |
A |
G |
17: 27,923,924 (GRCm39) |
D106G |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,732,790 (GRCm39) |
D682E |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,078,327 (GRCm39) |
V474E |
|
Het |
| Rdh16 |
A |
G |
10: 127,649,306 (GRCm39) |
D254G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,418,675 (GRCm39) |
D812E |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,160 (GRCm39) |
S651P |
probably benign |
Het |
| Sec16b |
G |
A |
1: 157,359,748 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
C |
T |
7: 126,872,122 (GRCm39) |
G324S |
probably damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,481,992 (GRCm39) |
D112G |
probably damaging |
Het |
| Slc25a47 |
C |
G |
12: 108,820,215 (GRCm39) |
T73S |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,799,509 (GRCm39) |
L109H |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,470,848 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,904,087 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,035,931 (GRCm39) |
I252T |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,934,415 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,611,521 (GRCm39) |
A170S |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,985,481 (GRCm39) |
N6D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,720,868 (GRCm39) |
T6852I |
unknown |
Het |
| Tufm |
A |
G |
7: 126,088,100 (GRCm39) |
E201G |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,099,493 (GRCm39) |
P236Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,289 (GRCm39) |
Y2510C |
possibly 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 |
|
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 |
|
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'- TAGTGTCGTCCTTTGCAGC -3'
(R):5'- TCTAATTGTAAGGCACAGGGGAC -3'
Sequencing Primer
(F):5'- TGCAGCTTCCCACTCGG -3'
(R):5'- GGGACCTGAATTCTACAGATTTAGCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation