Incidental Mutation 'R5672:Pwwp2a'
| ID |
442683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2a
|
| Ensembl Gene |
ENSMUSG00000044950 |
| Gene Name |
PWWP domain containing 2A |
| Synonyms |
4631424J17Rik, D930040F23Rik |
| MMRRC Submission |
043174-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R5672 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43572825-43612318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43596968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 436
(A436V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061070]
[ENSMUST00000094294]
[ENSMUST00000109280]
|
| AlphaFold |
Q69Z61 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061070
AA Change: A711V
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: A711V
| 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 benign
Transcript: ENSMUST00000094294
|
| SMART Domains |
Protein: ENSMUSP00000091852
Gene: ENSMUSG00000044950
| 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: A436V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: A436V
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
| Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
| Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
| Cfap68 |
T |
C |
9: 50,675,227 (GRCm39) |
T67A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
| Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
| Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
| Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
| Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
| Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
| Pop1 |
A |
G |
15: 34,530,325 (GRCm39) |
K908E |
possibly damaging |
Het |
| Pten |
A |
G |
19: 32,735,866 (GRCm39) |
I8V |
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
| Serpina1d |
A |
C |
12: 103,730,101 (GRCm39) |
D360E |
possibly damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,223,582 (GRCm39) |
D258G |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
| Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
| Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
| Vmn1r181 |
A |
C |
7: 23,683,741 (GRCm39) |
T69P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
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 |
|
R3077:Pwwp2a
|
UTSW |
11 |
43,596,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ATATATGGCTTCCCTTGGTGGC -3'
(R):5'- AAAGCCAACTGAGTGCAATTTC -3'
Sequencing Primer
(F):5'- TTACCATCACTGTAAGCCGG -3'
(R):5'- ACTGAGTGCAATTTCTCACCAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation