Incidental Mutation 'R5324:Parp12'
| ID |
405014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp12
|
| Ensembl Gene |
ENSMUSG00000038507 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 12 |
| Synonyms |
Zc3hdc1 |
| MMRRC Submission |
042907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R5324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
39063346-39095283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39079546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 321
(D321E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038398]
|
| AlphaFold |
Q8BZ20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038398
AA Change: D321E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507
AA Change: D321E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Ap5b1 |
G |
A |
19: 5,619,863 (GRCm39) |
E428K |
possibly damaging |
Het |
| Bmp2 |
C |
T |
2: 133,403,279 (GRCm39) |
R277* |
probably null |
Het |
| Cbl |
A |
T |
9: 44,065,551 (GRCm39) |
S659T |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,201,841 (GRCm39) |
H43L |
unknown |
Het |
| Corin |
A |
G |
5: 72,592,600 (GRCm39) |
C133R |
probably damaging |
Het |
| Cyp1a1 |
A |
G |
9: 57,609,652 (GRCm39) |
N401S |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,132,227 (GRCm39) |
D508G |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,348,819 (GRCm39) |
H2556L |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,140,458 (GRCm39) |
F1333L |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,005,660 (GRCm39) |
K717E |
possibly damaging |
Het |
| Fmn2 |
G |
A |
1: 174,436,446 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,978,617 (GRCm39) |
N510S |
probably damaging |
Het |
| Lrguk |
T |
C |
6: 34,050,732 (GRCm39) |
S397P |
possibly damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,570 (GRCm39) |
D617V |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| N6amt1 |
A |
G |
16: 87,151,241 (GRCm39) |
D34G |
probably damaging |
Het |
| Nktr |
A |
T |
9: 121,556,412 (GRCm39) |
D30V |
probably damaging |
Het |
| Or52ab7 |
T |
A |
7: 102,978,257 (GRCm39) |
M188K |
probably damaging |
Het |
| Or5w8 |
A |
T |
2: 87,688,040 (GRCm39) |
I174F |
probably damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,814 (GRCm39) |
I200L |
probably benign |
Het |
| Pabpc1 |
A |
G |
15: 36,600,869 (GRCm39) |
F314L |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,345 (GRCm39) |
V226M |
probably damaging |
Het |
| Plch2 |
T |
A |
4: 155,068,991 (GRCm39) |
T1107S |
probably benign |
Het |
| Psma2 |
T |
C |
13: 14,799,802 (GRCm39) |
L182P |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,105,401 (GRCm39) |
Y196C |
probably benign |
Het |
| Rdh16 |
G |
A |
10: 127,637,136 (GRCm39) |
V24M |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,310,041 (GRCm39) |
T105A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,547,601 (GRCm39) |
I371T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,191,674 (GRCm39) |
N920S |
probably benign |
Het |
| Tmem71 |
C |
T |
15: 66,427,063 (GRCm39) |
S44N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,704,837 (GRCm39) |
D27V |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,079 (GRCm39) |
|
probably benign |
Het |
| Zxdc |
T |
A |
6: 90,350,782 (GRCm39) |
I411N |
probably damaging |
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 |
|
IGL03032:Parp12
|
APN |
6 |
39,064,520 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCCAGATCAAGCTTTGGG -3'
(R):5'- ATGTTCTCAGGTCAATAATCAGGAC -3'
Sequencing Primer
(F):5'- CCAGATCAAGCTTTGGGGTGTG -3'
(R):5'- AGGACCATTCCCATTGACTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation