Incidental Mutation 'IGL02200:Pwwp2a'
ID |
284153 |
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 # |
IGL02200
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
43572825-43612318 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 43596955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 432
(I432L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104903
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061070]
[ENSMUST00000094294]
[ENSMUST00000109280]
|
AlphaFold |
Q69Z61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061070
AA Change: I707L
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000054154 Gene: ENSMUSG00000044950 AA Change: I707L
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 |
possibly damaging
Transcript: ENSMUST00000109280
AA Change: I432L
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104903 Gene: ENSMUSG00000044950 AA Change: I432L
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,862,663 (GRCm39) |
E207G |
probably benign |
Het |
Ahi1 |
T |
C |
10: 20,857,213 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
A |
T |
6: 118,536,302 (GRCm39) |
V97E |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,385,527 (GRCm39) |
Y736C |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,394,405 (GRCm39) |
W884R |
probably benign |
Het |
Cflar |
A |
G |
1: 58,791,828 (GRCm39) |
D380G |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,457,690 (GRCm39) |
|
probably benign |
Het |
Clca3b |
A |
G |
3: 144,547,190 (GRCm39) |
S316P |
probably damaging |
Het |
Crispld1 |
T |
C |
1: 17,820,557 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
G |
A |
18: 38,023,735 (GRCm39) |
P701L |
unknown |
Het |
Dip2b |
T |
C |
15: 100,049,083 (GRCm39) |
L159P |
possibly damaging |
Het |
Dock1 |
A |
G |
7: 134,346,000 (GRCm39) |
T181A |
probably benign |
Het |
Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
Gm2663 |
A |
G |
6: 40,972,947 (GRCm39) |
V220A |
probably benign |
Het |
Gpi-ps |
A |
G |
8: 5,689,968 (GRCm39) |
|
noncoding transcript |
Het |
Grik1 |
A |
G |
16: 87,737,453 (GRCm39) |
F614L |
probably damaging |
Het |
Htr2a |
T |
A |
14: 74,943,605 (GRCm39) |
I395N |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,686,632 (GRCm39) |
D528G |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,110,762 (GRCm39) |
|
probably benign |
Het |
M6pr |
A |
G |
6: 122,292,027 (GRCm39) |
M120V |
probably benign |
Het |
Mettl13 |
G |
A |
1: 162,366,392 (GRCm39) |
|
probably benign |
Het |
Mtfmt |
A |
G |
9: 65,356,063 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Ogfrl1 |
C |
T |
1: 23,409,150 (GRCm39) |
V359I |
probably benign |
Het |
Or51f1d |
C |
T |
7: 102,701,000 (GRCm39) |
T165I |
probably benign |
Het |
Ovch2 |
T |
C |
7: 107,394,030 (GRCm39) |
Y141C |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,679,855 (GRCm39) |
V1245M |
probably damaging |
Het |
Sis |
T |
C |
3: 72,850,937 (GRCm39) |
H587R |
probably damaging |
Het |
Snrnp40 |
A |
G |
4: 130,254,014 (GRCm39) |
K6E |
probably damaging |
Het |
Snx13 |
A |
T |
12: 35,136,884 (GRCm39) |
D115V |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,097,977 (GRCm39) |
T143K |
probably damaging |
Het |
Spag4 |
T |
C |
2: 155,908,517 (GRCm39) |
L55S |
probably benign |
Het |
Trgc2 |
T |
C |
13: 19,491,521 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
T |
C |
7: 86,451,187 (GRCm39) |
S358P |
probably benign |
Het |
|
Other mutations in Pwwp2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |