Incidental Mutation 'IGL02653:Pwwp2a'
ID |
302227 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pwwp2a
|
Ensembl Gene |
ENSMUSG00000044950 |
Gene Name |
PWWP domain containing 2A |
Synonyms |
4631424J17Rik, D930040F23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL02653
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
43572825-43612318 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43596862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 676
(T676A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000054154
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061070]
[ENSMUST00000094294]
[ENSMUST00000109280]
|
AlphaFold |
Q69Z61 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061070
AA Change: T676A
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000054154 Gene: ENSMUSG00000044950 AA Change: T676A
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 benign
Transcript: ENSMUST00000109280
AA Change: T401A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104903 Gene: ENSMUSG00000044950 AA Change: T401A
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
Esyt1 |
T |
A |
10: 128,346,877 (GRCm39) |
I1071L |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |