Incidental Mutation 'IGL02609:Pwwp3a'
ID |
300408 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pwwp3a
|
Ensembl Gene |
ENSMUSG00000020156 |
Gene Name |
PWWP domain containing 3A, DNA repair factor |
Synonyms |
9430059D04Rik, Mum1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02609
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
80062268-80079737 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80065917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 57
(E57V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020365]
[ENSMUST00000130260]
|
AlphaFold |
Q6DID5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020365
AA Change: E57V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020365 Gene: ENSMUSG00000020156 AA Change: E57V
Domain | Start | End | E-Value | Type |
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
Pfam:PWWP
|
381 |
458 |
2.9e-8 |
PFAM |
low complexity region
|
671 |
682 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125784
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130260
AA Change: E57V
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000117519 Gene: ENSMUSG00000020156 AA Change: E57V
Domain | Start | End | E-Value | Type |
low complexity region
|
127 |
140 |
N/A |
INTRINSIC |
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138801
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141962
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146538
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,381,854 (GRCm39) |
|
probably benign |
Het |
Aadacl4fm5 |
T |
A |
4: 144,506,307 (GRCm39) |
D128V |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,366,044 (GRCm39) |
Y520* |
probably null |
Het |
Agrn |
A |
T |
4: 156,259,680 (GRCm39) |
|
probably benign |
Het |
AI661453 |
A |
T |
17: 47,779,297 (GRCm39) |
|
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,961,062 (GRCm39) |
|
probably benign |
Het |
Asxl2 |
T |
C |
12: 3,550,018 (GRCm39) |
S587P |
probably damaging |
Het |
B3gntl1 |
A |
G |
11: 121,535,427 (GRCm39) |
|
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,180,224 (GRCm39) |
F2527L |
possibly damaging |
Het |
Baz2b |
T |
A |
2: 59,747,713 (GRCm39) |
M1317L |
possibly damaging |
Het |
Bcas3 |
A |
T |
11: 85,348,720 (GRCm39) |
K204I |
probably damaging |
Het |
Bpnt2 |
T |
A |
4: 4,767,763 (GRCm39) |
R338* |
probably null |
Het |
C1qtnf1 |
T |
C |
11: 118,338,830 (GRCm39) |
F167L |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,963,941 (GRCm39) |
T523M |
possibly damaging |
Het |
Ddb1 |
T |
A |
19: 10,599,830 (GRCm39) |
C680S |
possibly damaging |
Het |
Eef1d |
T |
C |
15: 75,768,162 (GRCm39) |
Q200R |
probably null |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm28557 |
T |
A |
13: 67,219,083 (GRCm39) |
K214* |
probably null |
Het |
Gm8229 |
A |
C |
14: 44,604,082 (GRCm39) |
E90D |
probably benign |
Het |
Hhla1 |
T |
C |
15: 65,802,463 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,309,130 (GRCm39) |
H457Y |
probably damaging |
Het |
Htr2c |
T |
C |
X: 145,976,756 (GRCm39) |
|
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,438,134 (GRCm39) |
S384R |
probably damaging |
Het |
Kirrel2 |
T |
C |
7: 30,147,765 (GRCm39) |
T628A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,749,674 (GRCm39) |
|
probably benign |
Het |
Larp4b |
T |
A |
13: 9,220,716 (GRCm39) |
I655N |
probably damaging |
Het |
Lrrd1 |
G |
A |
5: 3,908,803 (GRCm39) |
V692I |
probably benign |
Het |
Lypd8l |
A |
T |
11: 58,503,442 (GRCm39) |
C29S |
probably damaging |
Het |
Nes |
T |
C |
3: 87,884,528 (GRCm39) |
I929T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,308 (GRCm39) |
|
probably benign |
Het |
Rfx2 |
G |
T |
17: 57,112,404 (GRCm39) |
P43Q |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sh3tc1 |
T |
C |
5: 35,864,516 (GRCm39) |
K495R |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,590,743 (GRCm39) |
C1310S |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stk35 |
T |
C |
2: 129,643,721 (GRCm39) |
V235A |
probably damaging |
Het |
Syde2 |
T |
G |
3: 145,704,275 (GRCm39) |
V142G |
probably benign |
Het |
Tgfb3 |
A |
G |
12: 86,124,613 (GRCm39) |
F32L |
probably benign |
Het |
Tmem35a |
T |
C |
X: 133,205,446 (GRCm39) |
F121L |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
Vmn1r26 |
A |
G |
6: 57,985,860 (GRCm39) |
S110P |
probably damaging |
Het |
Vpreb1b |
T |
C |
16: 17,798,558 (GRCm39) |
|
probably benign |
Het |
Xrn2 |
A |
T |
2: 146,891,945 (GRCm39) |
T721S |
probably benign |
Het |
|
Other mutations in Pwwp3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01412:Pwwp3a
|
APN |
10 |
80,070,163 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02152:Pwwp3a
|
APN |
10 |
80,075,812 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02541:Pwwp3a
|
APN |
10 |
80,064,273 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02562:Pwwp3a
|
APN |
10 |
80,074,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Pwwp3a
|
UTSW |
10 |
80,070,092 (GRCm39) |
missense |
probably benign |
0.02 |
R0242:Pwwp3a
|
UTSW |
10 |
80,070,092 (GRCm39) |
missense |
probably benign |
0.02 |
R0378:Pwwp3a
|
UTSW |
10 |
80,074,713 (GRCm39) |
splice site |
probably null |
|
R0441:Pwwp3a
|
UTSW |
10 |
80,064,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R0675:Pwwp3a
|
UTSW |
10 |
80,065,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R1558:Pwwp3a
|
UTSW |
10 |
80,068,778 (GRCm39) |
missense |
probably benign |
0.05 |
R1612:Pwwp3a
|
UTSW |
10 |
80,068,889 (GRCm39) |
unclassified |
probably benign |
|
R1873:Pwwp3a
|
UTSW |
10 |
80,068,442 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2247:Pwwp3a
|
UTSW |
10 |
80,076,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R3905:Pwwp3a
|
UTSW |
10 |
80,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R3907:Pwwp3a
|
UTSW |
10 |
80,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R3908:Pwwp3a
|
UTSW |
10 |
80,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R4468:Pwwp3a
|
UTSW |
10 |
80,076,570 (GRCm39) |
intron |
probably benign |
|
R4657:Pwwp3a
|
UTSW |
10 |
80,068,848 (GRCm39) |
missense |
probably benign |
0.00 |
R4989:Pwwp3a
|
UTSW |
10 |
80,068,702 (GRCm39) |
missense |
probably benign |
0.01 |
R5030:Pwwp3a
|
UTSW |
10 |
80,076,209 (GRCm39) |
intron |
probably benign |
|
R5133:Pwwp3a
|
UTSW |
10 |
80,068,702 (GRCm39) |
missense |
probably benign |
0.01 |
R5134:Pwwp3a
|
UTSW |
10 |
80,068,702 (GRCm39) |
missense |
probably benign |
0.01 |
R5239:Pwwp3a
|
UTSW |
10 |
80,064,255 (GRCm39) |
nonsense |
probably null |
|
R6119:Pwwp3a
|
UTSW |
10 |
80,064,865 (GRCm39) |
missense |
probably benign |
0.25 |
R6253:Pwwp3a
|
UTSW |
10 |
80,068,848 (GRCm39) |
missense |
probably benign |
0.00 |
R6526:Pwwp3a
|
UTSW |
10 |
80,068,113 (GRCm39) |
missense |
probably benign |
0.18 |
R7421:Pwwp3a
|
UTSW |
10 |
80,068,587 (GRCm39) |
missense |
probably benign |
0.38 |
R8116:Pwwp3a
|
UTSW |
10 |
80,076,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R8252:Pwwp3a
|
UTSW |
10 |
80,077,694 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2015-04-16 |