Incidental Mutation 'IGL02560:Pwp2'
| ID |
298200 |
| 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? |
Probably essential
(E-score: 0.780)
|
| Stock # |
IGL02560
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78006743-78020983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78014899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 362
(S362G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042556]
|
| AlphaFold |
Q8BU03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042556
AA Change: S362G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: S362G
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
C |
T |
10: 88,814,603 (GRCm39) |
W660* |
probably null |
Het |
| Atp9b |
T |
C |
18: 80,805,413 (GRCm39) |
D715G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,216 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cldn19 |
G |
A |
4: 119,112,921 (GRCm39) |
W51* |
probably null |
Het |
| Ddx31 |
T |
C |
2: 28,765,838 (GRCm39) |
I512T |
probably damaging |
Het |
| Dsc2 |
G |
T |
18: 20,178,596 (GRCm39) |
D269E |
probably damaging |
Het |
| Dsg1b |
T |
C |
18: 20,542,235 (GRCm39) |
V914A |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,748,529 (GRCm39) |
E420G |
probably damaging |
Het |
| Foxa2 |
A |
G |
2: 147,885,951 (GRCm39) |
L113P |
probably benign |
Het |
| Gm6034 |
T |
G |
17: 36,367,356 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
A |
T |
2: 28,724,279 (GRCm39) |
Y343* |
probably null |
Het |
| Hhip |
A |
T |
8: 80,713,638 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,251,504 (GRCm39) |
C208S |
unknown |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Myb |
A |
T |
10: 21,028,347 (GRCm39) |
L172Q |
probably damaging |
Het |
| Nipal3 |
A |
T |
4: 135,207,015 (GRCm39) |
Y60N |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,373,042 (GRCm39) |
|
probably benign |
Het |
| Or5h26 |
G |
T |
16: 58,987,891 (GRCm39) |
S205* |
probably null |
Het |
| Or8k16 |
T |
A |
2: 85,519,863 (GRCm39) |
V30D |
possibly damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,578 (GRCm39) |
I126N |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,657,596 (GRCm39) |
D532G |
probably benign |
Het |
| Senp5 |
A |
G |
16: 31,808,210 (GRCm39) |
V348A |
probably benign |
Het |
| Slc25a37 |
T |
C |
14: 69,482,741 (GRCm39) |
T187A |
probably benign |
Het |
| Svil |
A |
G |
18: 5,049,379 (GRCm39) |
I219V |
probably benign |
Het |
| Tcf4 |
A |
G |
18: 69,776,093 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,779 (GRCm39) |
V2442A |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,970,212 (GRCm39) |
L530S |
probably benign |
Het |
| Ulbp3 |
A |
G |
10: 3,075,866 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
A |
T |
5: 113,699,045 (GRCm39) |
D200V |
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,221,793 (GRCm39) |
Q53* |
probably null |
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 |
|
IGL02280:Pwp2
|
APN |
10 |
78,019,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02558: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