Incidental Mutation 'R3905:Pwwp3a'
| ID |
309157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp3a
|
| Ensembl Gene |
ENSMUSG00000020156 |
| Gene Name |
PWWP domain containing 3A, DNA repair factor |
| Synonyms |
9430059D04Rik, Mum1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80062268-80079737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80074150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 401
(V401A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020365]
|
| AlphaFold |
Q6DID5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020365
AA Change: V401A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020365
Gene: ENSMUSG00000020156
AA Change: V401A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
381 |
458 |
2.9e-8 |
PFAM |
|
low complexity region
|
671 |
682 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136208
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146538
|
| Meta Mutation Damage Score |
0.6670 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,307,389 (GRCm39) |
I1964N |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,318,616 (GRCm39) |
F1796L |
probably benign |
Het |
| Abca17 |
T |
A |
17: 24,515,257 (GRCm39) |
M821L |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Ap4b1 |
A |
T |
3: 103,726,209 (GRCm39) |
I262F |
possibly damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,497,928 (GRCm39) |
E286D |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,106,339 (GRCm39) |
I429M |
possibly damaging |
Het |
| Bcl7c |
T |
C |
7: 127,266,155 (GRCm39) |
R198G |
possibly damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Ccdc159 |
T |
A |
9: 21,845,815 (GRCm39) |
|
probably null |
Het |
| Cct7 |
A |
T |
6: 85,443,690 (GRCm39) |
I353F |
possibly damaging |
Het |
| Cfap57 |
A |
G |
4: 118,453,036 (GRCm39) |
Y556H |
probably damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,927,531 (GRCm39) |
L324P |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Il22 |
C |
T |
10: 118,041,529 (GRCm39) |
R81* |
probably null |
Het |
| Impa1 |
T |
C |
3: 10,381,094 (GRCm39) |
T263A |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,956,166 (GRCm39) |
Y609C |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,166,294 (GRCm39) |
G563R |
possibly damaging |
Het |
| Mark1 |
A |
C |
1: 184,640,632 (GRCm39) |
|
probably null |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,227 (GRCm39) |
Y1N |
probably damaging |
Het |
| Nek3 |
T |
C |
8: 22,623,107 (GRCm39) |
E309G |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,487,749 (GRCm39) |
F17S |
probably damaging |
Het |
| Otoa |
A |
T |
7: 120,724,788 (GRCm39) |
Q489L |
probably damaging |
Het |
| Oxsr1 |
T |
C |
9: 119,076,178 (GRCm39) |
E376G |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,208,882 (GRCm39) |
E2494K |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,373,511 (GRCm39) |
H1349R |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Robo4 |
T |
A |
9: 37,314,801 (GRCm39) |
C218* |
probably null |
Het |
| Rxfp2 |
A |
T |
5: 149,979,450 (GRCm39) |
|
probably null |
Het |
| Slc10a1 |
A |
G |
12: 81,014,441 (GRCm39) |
I93T |
probably damaging |
Het |
| Tarbp1 |
C |
T |
8: 127,154,891 (GRCm39) |
R1411Q |
probably damaging |
Het |
| Tbl3 |
C |
T |
17: 24,921,006 (GRCm39) |
D563N |
probably damaging |
Het |
| Tec |
A |
G |
5: 72,917,705 (GRCm39) |
S505P |
probably damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,750 (GRCm39) |
R548* |
probably null |
Het |
| Vmn1r39 |
G |
A |
6: 66,781,479 (GRCm39) |
Q243* |
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
|
| Other mutations in Pwwp3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01412:Pwwp3a
|
APN |
10 |
80,070,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02152:Pwwp3a
|
APN |
10 |
80,075,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Pwwp3a
|
APN |
10 |
80,064,273 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02562:Pwwp3a
|
APN |
10 |
80,074,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02609:Pwwp3a
|
APN |
10 |
80,065,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Pwwp3a
|
UTSW |
10 |
80,070,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0242:Pwwp3a
|
UTSW |
10 |
80,070,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0378:Pwwp3a
|
UTSW |
10 |
80,074,713 (GRCm39) |
splice site |
probably null |
|
|
R0441:Pwwp3a
|
UTSW |
10 |
80,064,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Pwwp3a
|
UTSW |
10 |
80,065,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1558:Pwwp3a
|
UTSW |
10 |
80,068,778 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1612:Pwwp3a
|
UTSW |
10 |
80,068,889 (GRCm39) |
unclassified |
probably benign |
|
|
R1873:Pwwp3a
|
UTSW |
10 |
80,068,442 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2247:Pwwp3a
|
UTSW |
10 |
80,076,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Pwwp3a
|
UTSW |
10 |
80,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3908:Pwwp3a
|
UTSW |
10 |
80,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4468:Pwwp3a
|
UTSW |
10 |
80,076,570 (GRCm39) |
intron |
probably benign |
|
|
R4657:Pwwp3a
|
UTSW |
10 |
80,068,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4989:Pwwp3a
|
UTSW |
10 |
80,068,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5030:Pwwp3a
|
UTSW |
10 |
80,076,209 (GRCm39) |
intron |
probably benign |
|
|
R5133:Pwwp3a
|
UTSW |
10 |
80,068,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5134:Pwwp3a
|
UTSW |
10 |
80,068,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5239:Pwwp3a
|
UTSW |
10 |
80,064,255 (GRCm39) |
nonsense |
probably null |
|
|
R6119:Pwwp3a
|
UTSW |
10 |
80,064,865 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6253:Pwwp3a
|
UTSW |
10 |
80,068,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Pwwp3a
|
UTSW |
10 |
80,068,113 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7421:Pwwp3a
|
UTSW |
10 |
80,068,587 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8116:Pwwp3a
|
UTSW |
10 |
80,076,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Pwwp3a
|
UTSW |
10 |
80,077,694 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAATGGAGACTTGTGGATTC -3'
(R):5'- CTGAAACTCTGCTCTGGTGC -3'
Sequencing Primer
(F):5'- GATTCTACCTTGTAATACCACAGAGC -3'
(R):5'- TCTGGCTGAAACACCAAGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation