Incidental Mutation 'I1329:Parp12'
| ID |
26496 |
| Institutional Source |
Beutler Lab
|
| 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: 0.157)
|
| Stock # |
I1329 (G1)
of strain
toku
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
6 |
| Chromosomal Location |
39063346-39095283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39064505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 627
(M627K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003017]
[ENSMUST00000038398]
|
| AlphaFold |
Q8BZ20 |
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000038398
AA Change: M627K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507
AA Change: M627K
| 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
|
| Meta Mutation Damage Score |
0.8791 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 95.2%
|
| Validation Efficiency |
89% (42/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,863,631 (GRCm39) |
I28T |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,335,652 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
G |
C |
11: 120,592,066 (GRCm39) |
V268L |
probably damaging |
Het |
| Btbd10 |
A |
G |
7: 112,932,082 (GRCm39) |
S115P |
probably benign |
Het |
| Cercam |
T |
A |
2: 29,761,097 (GRCm39) |
V132E |
probably damaging |
Het |
| Decr1 |
G |
A |
4: 15,930,976 (GRCm39) |
R119* |
probably null |
Het |
| Dlst |
T |
C |
12: 85,170,615 (GRCm39) |
M248T |
probably damaging |
Het |
| Erbb3 |
T |
C |
10: 128,419,323 (GRCm39) |
N215S |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,451,414 (GRCm39) |
V1543M |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,944,619 (GRCm39) |
S542P |
probably benign |
Het |
| Gk5 |
GCC |
GC |
9: 96,022,682 (GRCm39) |
|
probably null |
Het |
| Glrb |
T |
A |
3: 80,769,381 (GRCm39) |
R115S |
probably damaging |
Het |
| Gm5592 |
T |
A |
7: 40,935,778 (GRCm39) |
Y93* |
probably null |
Het |
| Gpr20 |
C |
T |
15: 73,567,612 (GRCm39) |
R259H |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,511,600 (GRCm39) |
T215A |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,277 (GRCm39) |
C275R |
possibly damaging |
Het |
| Lats1 |
A |
G |
10: 7,588,566 (GRCm39) |
N1061S |
probably benign |
Het |
| Nkain3 |
A |
G |
4: 20,158,329 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,224 (GRCm39) |
|
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,051,585 (GRCm39) |
Q142R |
probably benign |
Het |
| Otog |
G |
A |
7: 45,895,927 (GRCm39) |
V131I |
probably benign |
Het |
| Pcdh9 |
A |
G |
14: 94,123,645 (GRCm39) |
S842P |
probably benign |
Het |
| Phc2 |
G |
C |
4: 128,604,906 (GRCm39) |
G214A |
probably damaging |
Het |
| Prpf40a |
C |
A |
2: 53,066,407 (GRCm39) |
V92L |
probably benign |
Het |
| Qser1 |
A |
T |
2: 104,617,322 (GRCm39) |
Y1163* |
probably null |
Het |
| Rpe65 |
A |
G |
3: 159,330,360 (GRCm39) |
D509G |
probably benign |
Het |
| Scin |
T |
A |
12: 40,123,329 (GRCm39) |
N518I |
probably damaging |
Het |
| Sfswap |
G |
T |
5: 129,584,201 (GRCm39) |
|
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,274,460 (GRCm39) |
N182K |
possibly damaging |
Het |
| Tph1 |
A |
G |
7: 46,299,437 (GRCm39) |
L368P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,571,916 (GRCm39) |
T26326A |
possibly damaging |
Het |
| Ubr1 |
G |
A |
2: 120,764,775 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,040,893 (GRCm39) |
C1791F |
probably damaging |
Het |
| Vmn1r16 |
T |
G |
6: 57,300,519 (GRCm39) |
R34S |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,087,654 (GRCm39) |
P1604Q |
probably damaging |
Het |
| Zc3h12a |
A |
G |
4: 125,013,157 (GRCm39) |
V569A |
possibly damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,670,145 (GRCm39) |
F488S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCACCAGACAGACAGATGTG -3'
(R):5'- GCCCTGCTGAATAGAGAGGTGTTG -3'
Sequencing Primer
(F):5'- ACGCCTAATGCATCCTGG -3'
(R):5'- TTGATGCCTCCACGAGTGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation