Incidental Mutation 'R3077:Pwwp2a'
| ID |
265262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2a
|
| Ensembl Gene |
ENSMUSG00000044950 |
| Gene Name |
PWWP domain containing 2A |
| Synonyms |
4631424J17Rik, D930040F23Rik |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43572825-43612318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43596212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 184
(N184S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061070]
[ENSMUST00000094294]
[ENSMUST00000109280]
|
| AlphaFold |
Q69Z61 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061070
AA Change: N459S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: N459S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
509 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
576 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
598 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
628 |
714 |
5.3e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094294
AA Change: N459S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950
AA Change: N459S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
275 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109280
AA Change: N184S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: N184S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
213 |
234 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
|
Pfam:PWWP
|
353 |
438 |
2.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129229
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or51a7 |
G |
T |
7: 102,615,223 (GRCm39) |
K305N |
probably benign |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,508 (GRCm39) |
R199G |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,924,199 (GRCm39) |
E807G |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Pwwp2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02200:Pwwp2a
|
APN |
11 |
43,596,955 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02227:Pwwp2a
|
APN |
11 |
43,596,448 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02653:Pwwp2a
|
APN |
11 |
43,596,862 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03258:Pwwp2a
|
APN |
11 |
43,595,392 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0376:Pwwp2a
|
UTSW |
11 |
43,595,499 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Pwwp2a
|
UTSW |
11 |
43,596,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1465:Pwwp2a
|
UTSW |
11 |
43,596,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2127:Pwwp2a
|
UTSW |
11 |
43,596,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2128:Pwwp2a
|
UTSW |
11 |
43,596,145 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2173:Pwwp2a
|
UTSW |
11 |
43,573,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3436:Pwwp2a
|
UTSW |
11 |
43,597,015 (GRCm39) |
nonsense |
probably null |
|
|
R3437:Pwwp2a
|
UTSW |
11 |
43,597,015 (GRCm39) |
nonsense |
probably null |
|
|
R4427:Pwwp2a
|
UTSW |
11 |
43,573,344 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5597:Pwwp2a
|
UTSW |
11 |
43,573,422 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5672:Pwwp2a
|
UTSW |
11 |
43,596,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Pwwp2a
|
UTSW |
11 |
43,596,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Pwwp2a
|
UTSW |
11 |
43,595,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6563:Pwwp2a
|
UTSW |
11 |
43,596,592 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6709:Pwwp2a
|
UTSW |
11 |
43,595,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Pwwp2a
|
UTSW |
11 |
43,597,018 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7305:Pwwp2a
|
UTSW |
11 |
43,607,878 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7351:Pwwp2a
|
UTSW |
11 |
43,573,107 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7767:Pwwp2a
|
UTSW |
11 |
43,596,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Pwwp2a
|
UTSW |
11 |
43,596,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9144:Pwwp2a
|
UTSW |
11 |
43,596,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGATCACGCAAAAGCTCG -3'
(R):5'- TTGCCCAACATCCGCAGTTC -3'
Sequencing Primer
(F):5'- CTCGGGAAGTATTGAAAATTGCC -3'
(R):5'- TGCTCACCAGGCACACG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation