Incidental Mutation 'IGL00159:Parp3'
ID |
1280 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Parp3
|
Ensembl Gene |
ENSMUSG00000023249 |
Gene Name |
poly (ADP-ribose) polymerase family, member 3 |
Synonyms |
A930002C11Rik, PARP-3, Adprt3, Adprtl3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00159
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
106347521-106354148 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106348586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 478
(I478T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067218]
[ENSMUST00000112479]
[ENSMUST00000123555]
[ENSMUST00000125850]
[ENSMUST00000214682]
[ENSMUST00000156426]
|
AlphaFold |
Q3ULW8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067218
AA Change: I478T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000064513 Gene: ENSMUSG00000023249 AA Change: I478T
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
Pfam:PARP_reg
|
176 |
315 |
8.7e-39 |
PFAM |
Pfam:PARP
|
317 |
528 |
7.1e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112479
AA Change: I483T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108098 Gene: ENSMUSG00000023249 AA Change: I483T
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
Pfam:PARP_reg
|
182 |
319 |
1.3e-42 |
PFAM |
Pfam:PARP
|
322 |
533 |
7.3e-62 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123464
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123555
AA Change: I478T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000123054 Gene: ENSMUSG00000023249 AA Change: I478T
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
Pfam:PARP_reg
|
176 |
315 |
8.7e-39 |
PFAM |
Pfam:PARP
|
317 |
528 |
7.1e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125850
|
SMART Domains |
Protein: ENSMUSP00000119244 Gene: ENSMUSG00000023249
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145396
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214682
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156426
|
SMART Domains |
Protein: ENSMUSP00000117329 Gene: ENSMUSG00000023249
Domain | Start | End | E-Value | Type |
WGR
|
64 |
141 |
1.83e-37 |
SMART |
PDB:4L7U|A
|
179 |
202 |
6e-7 |
PDB |
SCOP:d1a26_1
|
182 |
202 |
5e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal survival. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
Zhx2 |
A |
T |
15: 57,686,266 (GRCm39) |
E545V |
probably damaging |
Het |
|
Other mutations in Parp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00827:Parp3
|
APN |
9 |
106,351,605 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02683:Parp3
|
APN |
9 |
106,350,384 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0050:Parp3
|
UTSW |
9 |
106,348,600 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0110:Parp3
|
UTSW |
9 |
106,348,995 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0320:Parp3
|
UTSW |
9 |
106,353,011 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0510:Parp3
|
UTSW |
9 |
106,348,995 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0989:Parp3
|
UTSW |
9 |
106,350,281 (GRCm39) |
splice site |
probably null |
|
R1170:Parp3
|
UTSW |
9 |
106,353,204 (GRCm39) |
intron |
probably benign |
|
R1919:Parp3
|
UTSW |
9 |
106,352,316 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1935:Parp3
|
UTSW |
9 |
106,351,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R1936:Parp3
|
UTSW |
9 |
106,351,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R1958:Parp3
|
UTSW |
9 |
106,352,021 (GRCm39) |
splice site |
probably null |
|
R2188:Parp3
|
UTSW |
9 |
106,353,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R2919:Parp3
|
UTSW |
9 |
106,350,924 (GRCm39) |
missense |
possibly damaging |
0.84 |
R3014:Parp3
|
UTSW |
9 |
106,348,514 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3429:Parp3
|
UTSW |
9 |
106,351,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R3430:Parp3
|
UTSW |
9 |
106,351,922 (GRCm39) |
missense |
probably damaging |
0.99 |
R3618:Parp3
|
UTSW |
9 |
106,352,262 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3980:Parp3
|
UTSW |
9 |
106,351,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Parp3
|
UTSW |
9 |
106,350,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R5617:Parp3
|
UTSW |
9 |
106,351,704 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6015:Parp3
|
UTSW |
9 |
106,351,481 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6591:Parp3
|
UTSW |
9 |
106,350,891 (GRCm39) |
missense |
probably benign |
|
R6691:Parp3
|
UTSW |
9 |
106,350,891 (GRCm39) |
missense |
probably benign |
|
R7403:Parp3
|
UTSW |
9 |
106,352,052 (GRCm39) |
missense |
probably benign |
0.35 |
R7612:Parp3
|
UTSW |
9 |
106,351,393 (GRCm39) |
missense |
probably benign |
0.03 |
R8330:Parp3
|
UTSW |
9 |
106,352,069 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8396:Parp3
|
UTSW |
9 |
106,351,447 (GRCm39) |
missense |
probably benign |
0.00 |
R8733:Parp3
|
UTSW |
9 |
106,353,150 (GRCm39) |
missense |
probably benign |
0.01 |
R9023:Parp3
|
UTSW |
9 |
106,348,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Parp3
|
UTSW |
9 |
106,350,891 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2011-07-12 |