Incidental Mutation 'R3908:Pwwp3a'
| ID |
310294 |
| 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 # |
R3908 (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: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,067,151 (GRCm39) |
V1352A |
possibly damaging |
Het |
| Abcb7 |
G |
T |
X: 103,327,765 (GRCm39) |
Q715K |
probably benign |
Het |
| Adamts3 |
C |
A |
5: 90,009,214 (GRCm39) |
G150C |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Ddi2 |
T |
C |
4: 141,411,592 (GRCm39) |
D440G |
probably benign |
Het |
| Esp34 |
A |
G |
17: 38,870,532 (GRCm39) |
D74G |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,083,257 (GRCm39) |
V748A |
possibly damaging |
Het |
| Fat1 |
G |
C |
8: 45,476,072 (GRCm39) |
R1706T |
probably benign |
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 |
| Jak2 |
T |
A |
19: 29,268,673 (GRCm39) |
L583Q |
probably damaging |
Het |
| Kcnj4 |
G |
T |
15: 79,369,946 (GRCm39) |
H11Q |
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,379,169 (GRCm39) |
I287V |
probably damaging |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Matr3 |
C |
T |
18: 35,705,894 (GRCm39) |
P273L |
probably damaging |
Het |
| Mpp4 |
T |
A |
1: 59,188,196 (GRCm39) |
H183L |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,661,885 (GRCm39) |
|
probably null |
Het |
| Or52h7 |
T |
C |
7: 104,213,848 (GRCm39) |
I140T |
probably benign |
Het |
| Ppp1r12b |
A |
G |
1: 134,770,470 (GRCm39) |
S617P |
probably damaging |
Het |
| Psmb1 |
T |
C |
17: 15,710,543 (GRCm39) |
Y2C |
probably damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,511,919 (GRCm39) |
T141A |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,910,875 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
C |
A |
5: 108,995,785 (GRCm39) |
A288S |
probably benign |
Het |
| Zbtb12 |
A |
T |
17: 35,115,244 (GRCm39) |
|
probably null |
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 |
|
R3905:Pwwp3a
|
UTSW |
10 |
80,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907: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'- ATGGAGACTTGTGGATTCTACC -3'
(R):5'- GCTGAAACTCTGCTCTGGTG -3'
Sequencing Primer
(F):5'- GATTCTACCTTGTAATACCACAGAGC -3'
(R):5'- TCTGGCTGAAACACCAAGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation