Incidental Mutation 'R6252:Pwp1'
| ID |
506288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwp1
|
| Ensembl Gene |
ENSMUSG00000001785 |
| Gene Name |
PWP1 homolog, endonuclein |
| Synonyms |
2610205J09Rik, 2310058A11Rik |
| MMRRC Submission |
044369-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
85707695-85724967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85710373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 5
(V5A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001836]
[ENSMUST00000217667]
[ENSMUST00000219256]
|
| AlphaFold |
Q99LL5 |
| Predicted Effect |
silent
Transcript: ENSMUST00000001836
|
| SMART Domains |
Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
61 |
N/A |
INTRINSIC |
|
Blast:WD40
|
168 |
220 |
4e-27 |
BLAST |
|
WD40
|
244 |
284 |
4.51e-7 |
SMART |
|
WD40
|
287 |
327 |
3.37e-6 |
SMART |
|
WD40
|
331 |
370 |
4.42e1 |
SMART |
|
WD40
|
373 |
413 |
6.38e-7 |
SMART |
|
Blast:WD40
|
418 |
458 |
3e-23 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217667
AA Change: V5A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000219256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219902
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
| Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
| AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
| Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
| Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
| Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
| Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
| Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
| Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
| Slc44a3 |
T |
A |
3: 121,307,386 (GRCm39) |
D200V |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
| St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
| Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
| Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
| Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
| Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
| Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
probably benign |
Het |
|
| Other mutations in Pwp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00707:Pwp1
|
APN |
10 |
85,714,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00778:Pwp1
|
APN |
10 |
85,715,752 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01086:Pwp1
|
APN |
10 |
85,715,757 (GRCm39) |
splice site |
probably null |
|
|
IGL02526:Pwp1
|
APN |
10 |
85,717,967 (GRCm39) |
splice site |
probably null |
|
|
IGL02596:Pwp1
|
APN |
10 |
85,707,882 (GRCm39) |
splice site |
probably null |
|
|
IGL03164:Pwp1
|
APN |
10 |
85,714,367 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03269:Pwp1
|
APN |
10 |
85,718,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Annuals
|
UTSW |
10 |
85,712,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Pwp1
|
UTSW |
10 |
85,721,760 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0049:Pwp1
|
UTSW |
10 |
85,721,480 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0049:Pwp1
|
UTSW |
10 |
85,721,480 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0766:Pwp1
|
UTSW |
10 |
85,715,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0926:Pwp1
|
UTSW |
10 |
85,712,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1238:Pwp1
|
UTSW |
10 |
85,721,726 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1312:Pwp1
|
UTSW |
10 |
85,715,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1420:Pwp1
|
UTSW |
10 |
85,712,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Pwp1
|
UTSW |
10 |
85,717,943 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3277:Pwp1
|
UTSW |
10 |
85,717,943 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3818:Pwp1
|
UTSW |
10 |
85,723,993 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4008:Pwp1
|
UTSW |
10 |
85,717,898 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5964:Pwp1
|
UTSW |
10 |
85,718,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Pwp1
|
UTSW |
10 |
85,710,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6765:Pwp1
|
UTSW |
10 |
85,720,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7168:Pwp1
|
UTSW |
10 |
85,720,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Pwp1
|
UTSW |
10 |
85,712,173 (GRCm39) |
missense |
probably benign |
|
|
R7236:Pwp1
|
UTSW |
10 |
85,715,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7840:Pwp1
|
UTSW |
10 |
85,723,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9025:Pwp1
|
UTSW |
10 |
85,718,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Pwp1
|
UTSW |
10 |
85,720,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9366:Pwp1
|
UTSW |
10 |
85,717,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9451:Pwp1
|
UTSW |
10 |
85,714,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9535:Pwp1
|
UTSW |
10 |
85,723,958 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9563:Pwp1
|
UTSW |
10 |
85,712,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCATCGCTGAAGCAAAAGG -3'
(R):5'- AATTATCTGACCCGACCCTGGG -3'
Sequencing Primer
(F):5'- AGGAAAGTTGCAGTAAGTCATTTC -3'
(R):5'- CCGACCCTGGGGAGAGTAAAAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation