Incidental Mutation 'R3818:Pwp1'
| ID |
274789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwp1
|
| Ensembl Gene |
ENSMUSG00000001785 |
| Gene Name |
PWP1 homolog, endonuclein |
| Synonyms |
2610205J09Rik, 2310058A11Rik |
| MMRRC Submission |
040772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3818 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85707695-85724967 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 85723993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 498
(P498L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001836]
[ENSMUST00000037646]
[ENSMUST00000219370]
[ENSMUST00000220032]
|
| AlphaFold |
Q99LL5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001836
AA Change: P498L
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001836
Gene: ENSMUSG00000001785
AA Change: P498L
| 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: ENSMUST00000037646
|
| SMART Domains |
Protein: ENSMUSP00000041942
Gene: ENSMUSG00000035529
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
33 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
353 |
N/A |
INTRINSIC |
|
PDB:3DB5|B
|
386 |
543 |
2e-98 |
PDB |
|
Blast:SET
|
408 |
538 |
5e-82 |
BLAST |
|
ZnF_C2H2
|
548 |
569 |
7.77e1 |
SMART |
|
low complexity region
|
575 |
588 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
593 |
615 |
3.78e-1 |
SMART |
|
ZnF_C2H2
|
621 |
643 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
649 |
671 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
677 |
699 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
705 |
727 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
733 |
753 |
1.81e1 |
SMART |
|
low complexity region
|
759 |
780 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164562
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220032
|
| Meta Mutation Damage Score |
0.0849 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
| Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
| Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
| Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
| Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
| Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
| Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
R6252:Pwp1
|
UTSW |
10 |
85,710,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCATCAGGCTTCCAGGTTG -3'
(R):5'- TACAGTACCCAGTAGAAGGCAG -3'
Sequencing Primer
(F):5'- ATCAGGCTTCCAGGTTGGCTAC -3'
(R):5'- CCAGTAGAAGGCAGCCCAAAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation