Incidental Mutation 'IGL03032:Parp12'
ID |
408496 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Parp12
|
Ensembl Gene |
ENSMUSG00000038507 |
Gene Name |
poly (ADP-ribose) polymerase family, member 12 |
Synonyms |
Zc3hdc1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL03032
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39063346-39095283 bp(-) (GRCm39) |
Type of Mutation |
splice site (3001 bp from exon) |
DNA Base Change (assembly) |
G to A
at 39064520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003017
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003017]
[ENSMUST00000038398]
|
AlphaFold |
Q8BZ20 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003017
|
SMART Domains |
Protein: ENSMUSP00000003017 Gene: ENSMUSG00000029925
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
28 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
530 |
1.5e-95 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038398
AA Change: T622I
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000039704 Gene: ENSMUSG00000038507 AA Change: T622I
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
low complexity region
|
51 |
83 |
N/A |
INTRINSIC |
ZnF_C3H1
|
99 |
127 |
2.79e1 |
SMART |
ZnF_C3H1
|
186 |
210 |
1.36e-2 |
SMART |
ZnF_C3H1
|
280 |
306 |
2.03e1 |
SMART |
Pfam:WWE
|
385 |
468 |
1.3e-16 |
PFAM |
Pfam:PARP
|
506 |
689 |
5.2e-48 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161781
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,119,774 (GRCm39) |
Y177F |
possibly damaging |
Het |
Als2 |
C |
A |
1: 59,255,189 (GRCm39) |
|
probably benign |
Het |
Arhgap44 |
A |
G |
11: 64,915,038 (GRCm39) |
L410P |
probably damaging |
Het |
Atp13a2 |
C |
T |
4: 140,727,666 (GRCm39) |
A481V |
possibly damaging |
Het |
Bod1l |
C |
A |
5: 41,988,927 (GRCm39) |
L393F |
probably benign |
Het |
Cflar |
T |
A |
1: 58,780,179 (GRCm39) |
I258N |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,244,458 (GRCm39) |
|
probably null |
Het |
Csmd2 |
A |
T |
4: 128,412,834 (GRCm39) |
N2542I |
probably benign |
Het |
Cyp2b9 |
T |
C |
7: 25,898,025 (GRCm39) |
|
probably benign |
Het |
Dip2c |
A |
T |
13: 9,601,814 (GRCm39) |
I258F |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,854,585 (GRCm39) |
S1560P |
probably benign |
Het |
Drc7 |
C |
T |
8: 95,802,875 (GRCm39) |
|
probably benign |
Het |
Gm3667 |
T |
A |
14: 18,269,522 (GRCm39) |
S203C |
probably null |
Het |
Gramd2a |
A |
G |
9: 59,619,410 (GRCm39) |
E190G |
probably benign |
Het |
Gstm4 |
T |
C |
3: 107,951,263 (GRCm39) |
D8G |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,067,928 (GRCm39) |
M1820K |
probably benign |
Het |
Irs4 |
A |
G |
X: 140,505,794 (GRCm39) |
Y801H |
unknown |
Het |
Loxhd1 |
C |
T |
18: 77,374,169 (GRCm39) |
T80I |
possibly damaging |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Mapk8ip1 |
T |
G |
2: 92,216,958 (GRCm39) |
K446Q |
probably damaging |
Het |
Mettl21e |
C |
A |
1: 44,249,319 (GRCm39) |
|
probably null |
Het |
Mmp8 |
T |
A |
9: 7,558,530 (GRCm39) |
|
probably benign |
Het |
Muc19 |
A |
T |
15: 91,808,424 (GRCm39) |
|
noncoding transcript |
Het |
Nipsnap3b |
T |
A |
4: 53,015,016 (GRCm39) |
V21E |
possibly damaging |
Het |
Or1j15 |
C |
A |
2: 36,458,716 (GRCm39) |
Y35* |
probably null |
Het |
Or5al6 |
A |
G |
2: 85,977,043 (GRCm39) |
F12L |
probably damaging |
Het |
Or7a38 |
A |
T |
10: 78,753,471 (GRCm39) |
I266F |
probably benign |
Het |
Pramel14 |
C |
A |
4: 143,719,815 (GRCm39) |
L183F |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,948 (GRCm39) |
T169S |
possibly damaging |
Het |
Rnf38 |
T |
C |
4: 44,152,529 (GRCm39) |
R12G |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,363,624 (GRCm39) |
|
probably benign |
Het |
Slpi |
T |
C |
2: 164,197,367 (GRCm39) |
|
probably benign |
Het |
Snx17 |
G |
A |
5: 31,353,355 (GRCm39) |
V165I |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,880,357 (GRCm39) |
V570A |
probably benign |
Het |
Vmn1r63 |
A |
G |
7: 5,806,350 (GRCm39) |
M94T |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,672,575 (GRCm39) |
I771V |
probably benign |
Het |
Wiz |
A |
G |
17: 32,575,532 (GRCm39) |
V868A |
probably benign |
Het |
|
Other mutations in Parp12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02199:Parp12
|
APN |
6 |
39,073,524 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02937:Parp12
|
APN |
6 |
39,079,515 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Parp12
|
APN |
6 |
39,091,165 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03365:Parp12
|
APN |
6 |
39,079,581 (GRCm39) |
missense |
probably damaging |
1.00 |
I1329:Parp12
|
UTSW |
6 |
39,064,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R1016:Parp12
|
UTSW |
6 |
39,088,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R1446:Parp12
|
UTSW |
6 |
39,079,495 (GRCm39) |
missense |
probably benign |
0.00 |
R1640:Parp12
|
UTSW |
6 |
39,088,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R1640:Parp12
|
UTSW |
6 |
39,073,574 (GRCm39) |
missense |
probably benign |
0.38 |
R4794:Parp12
|
UTSW |
6 |
39,094,744 (GRCm39) |
missense |
probably benign |
0.02 |
R5324:Parp12
|
UTSW |
6 |
39,079,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R5411:Parp12
|
UTSW |
6 |
39,067,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R6862:Parp12
|
UTSW |
6 |
39,088,670 (GRCm39) |
missense |
probably benign |
0.02 |
R6864:Parp12
|
UTSW |
6 |
39,088,670 (GRCm39) |
missense |
probably benign |
0.02 |
R6865:Parp12
|
UTSW |
6 |
39,088,670 (GRCm39) |
missense |
probably benign |
0.02 |
R7124:Parp12
|
UTSW |
6 |
39,088,670 (GRCm39) |
missense |
probably benign |
0.02 |
R7126:Parp12
|
UTSW |
6 |
39,088,670 (GRCm39) |
missense |
probably benign |
0.02 |
R7935:Parp12
|
UTSW |
6 |
39,079,612 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8050:Parp12
|
UTSW |
6 |
39,066,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R8403:Parp12
|
UTSW |
6 |
39,068,279 (GRCm39) |
missense |
probably benign |
0.06 |
R8686:Parp12
|
UTSW |
6 |
39,094,856 (GRCm39) |
missense |
probably benign |
0.00 |
R8792:Parp12
|
UTSW |
6 |
39,065,984 (GRCm39) |
missense |
probably benign |
0.00 |
R8813:Parp12
|
UTSW |
6 |
39,073,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R9797:Parp12
|
UTSW |
6 |
39,067,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |