Incidental Mutation 'R3436:Pwwp2a'
| ID |
267196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2a
|
| Ensembl Gene |
ENSMUSG00000044950 |
| Gene Name |
PWWP domain containing 2A |
| Synonyms |
4631424J17Rik, D930040F23Rik |
| MMRRC Submission |
040654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R3436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
43572825-43612318 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 43597015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 452
(Q452*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061070]
[ENSMUST00000094294]
[ENSMUST00000109280]
|
| AlphaFold |
Q69Z61 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061070
AA Change: Q727*
|
| SMART Domains |
Protein: ENSMUSP00000054154
Gene: ENSMUSG00000044950
AA Change: Q727*
| 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 null
Transcript: ENSMUST00000109280
AA Change: Q452*
|
| SMART Domains |
Protein: ENSMUSP00000104903
Gene: ENSMUSG00000044950
AA Change: Q452*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
| Cdc20b |
T |
C |
13: 113,215,233 (GRCm39) |
I267T |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
| Ehd1 |
G |
T |
19: 6,327,044 (GRCm39) |
E14* |
probably null |
Het |
| F8 |
A |
G |
X: 74,311,030 (GRCm39) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
| Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
| Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
| Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
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 |
|
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'- GGTTTGCATCTCCAACCACATC -3'
(R):5'- CAAATGGCAATTAACAGTCCCTG -3'
Sequencing Primer
(F):5'- GCATCTCCAACCACATCTTCCC -3'
(R):5'- ACAGTCCCTGCAAAAATTGTTTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation