Incidental Mutation 'IGL02280:Pwp2'
| ID |
289800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pwp2
|
| Ensembl Gene |
ENSMUSG00000032834 |
| Gene Name |
PWP2 periodic tryptophan protein homolog (yeast) |
| Synonyms |
Pwp2, Pwp2h, 6530411D08Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.721)
|
| Stock # |
IGL02280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78006743-78020983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78019934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 30
(I30N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000384]
[ENSMUST00000042556]
|
| AlphaFold |
Q8BU03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000384
|
| SMART Domains |
Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAPPC10
|
1016 |
1245 |
1.1e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042556
AA Change: I30N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: I30N
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
83 |
1.47e2 |
SMART |
|
WD40
|
86 |
123 |
1.78e1 |
SMART |
|
WD40
|
133 |
172 |
5.35e-1 |
SMART |
|
WD40
|
177 |
216 |
8.29e-1 |
SMART |
|
low complexity region
|
239 |
254 |
N/A |
INTRINSIC |
|
WD40
|
273 |
316 |
1.9e2 |
SMART |
|
WD40
|
319 |
359 |
4.44e0 |
SMART |
|
WD40
|
362 |
401 |
7.44e-8 |
SMART |
|
WD40
|
404 |
443 |
3.87e-6 |
SMART |
|
WD40
|
446 |
487 |
5.7e1 |
SMART |
|
WD40
|
490 |
529 |
1.28e-11 |
SMART |
|
WD40
|
533 |
571 |
9.94e-1 |
SMART |
|
WD40
|
594 |
633 |
4.95e0 |
SMART |
|
WD40
|
692 |
729 |
2.21e1 |
SMART |
|
Pfam:Utp12
|
771 |
875 |
9.4e-25 |
PFAM |
|
low complexity region
|
890 |
902 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd6 |
A |
G |
1: 59,117,040 (GRCm39) |
|
probably null |
Het |
| Car12 |
T |
C |
9: 66,653,857 (GRCm39) |
L71P |
probably damaging |
Het |
| Dusp29 |
A |
T |
14: 21,736,787 (GRCm39) |
I105N |
probably damaging |
Het |
| Galnt7 |
T |
G |
8: 57,989,824 (GRCm39) |
R467S |
probably damaging |
Het |
| Glra3 |
T |
A |
8: 56,394,006 (GRCm39) |
L39Q |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,758,961 (GRCm39) |
K1526E |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,222,256 (GRCm39) |
R12G |
probably damaging |
Het |
| Ly6g6f |
G |
T |
17: 35,302,194 (GRCm39) |
H114Q |
probably benign |
Het |
| Mrc1 |
C |
A |
2: 14,249,024 (GRCm39) |
R187S |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,174,198 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
T |
C |
2: 87,405,689 (GRCm39) |
I87T |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,695 (GRCm39) |
S93P |
probably damaging |
Het |
| Parva |
T |
C |
7: 112,159,226 (GRCm39) |
I164T |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,058,295 (GRCm39) |
Q233L |
probably damaging |
Het |
| Pcdhb4 |
T |
G |
18: 37,440,735 (GRCm39) |
V15G |
probably benign |
Het |
| Pnpla7 |
T |
A |
2: 24,901,589 (GRCm39) |
D538E |
probably benign |
Het |
| Robo2 |
G |
T |
16: 73,843,704 (GRCm39) |
D170E |
probably damaging |
Het |
| Scara5 |
A |
G |
14: 65,968,227 (GRCm39) |
M167V |
probably benign |
Het |
| Sdr9c7 |
A |
C |
10: 127,738,287 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,473,165 (GRCm39) |
C4836S |
probably damaging |
Het |
| Taar7d |
A |
T |
10: 23,904,006 (GRCm39) |
D296V |
probably damaging |
Het |
|
| Other mutations in Pwp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Pwp2
|
APN |
10 |
78,014,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Pwp2
|
APN |
10 |
78,014,119 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02558:Pwp2
|
APN |
10 |
78,014,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Pwp2
|
APN |
10 |
78,014,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Pwp2
|
APN |
10 |
78,016,917 (GRCm39) |
missense |
probably benign |
|
|
IGL02612:Pwp2
|
APN |
10 |
78,018,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Pwp2
|
UTSW |
10 |
78,020,921 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
PIT4449001:Pwp2
|
UTSW |
10 |
78,014,304 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0573:Pwp2
|
UTSW |
10 |
78,018,520 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1835:Pwp2
|
UTSW |
10 |
78,014,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Pwp2
|
UTSW |
10 |
78,013,576 (GRCm39) |
splice site |
probably benign |
|
|
R2251:Pwp2
|
UTSW |
10 |
78,016,922 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2967:Pwp2
|
UTSW |
10 |
78,018,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4909:Pwp2
|
UTSW |
10 |
78,018,328 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4950:Pwp2
|
UTSW |
10 |
78,018,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4970:Pwp2
|
UTSW |
10 |
78,009,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5015:Pwp2
|
UTSW |
10 |
78,018,527 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5355:Pwp2
|
UTSW |
10 |
78,011,378 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5390:Pwp2
|
UTSW |
10 |
78,013,605 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5416:Pwp2
|
UTSW |
10 |
78,018,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Pwp2
|
UTSW |
10 |
78,007,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Pwp2
|
UTSW |
10 |
78,018,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6495:Pwp2
|
UTSW |
10 |
78,012,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Pwp2
|
UTSW |
10 |
78,018,222 (GRCm39) |
splice site |
probably null |
|
|
R6848:Pwp2
|
UTSW |
10 |
78,020,127 (GRCm39) |
splice site |
probably null |
|
|
R6897:Pwp2
|
UTSW |
10 |
78,007,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Pwp2
|
UTSW |
10 |
78,009,084 (GRCm39) |
splice site |
probably null |
|
|
R7269:Pwp2
|
UTSW |
10 |
78,012,170 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7367:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Pwp2
|
UTSW |
10 |
78,014,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Pwp2
|
UTSW |
10 |
78,018,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7898:Pwp2
|
UTSW |
10 |
78,009,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Pwp2
|
UTSW |
10 |
78,007,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8447:Pwp2
|
UTSW |
10 |
78,007,873 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8750:Pwp2
|
UTSW |
10 |
78,013,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Pwp2
|
UTSW |
10 |
78,009,540 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9367:Pwp2
|
UTSW |
10 |
78,014,827 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pwp2
|
UTSW |
10 |
78,007,808 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation