Incidental Mutation 'R5066:Parp10'
| ID |
388346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp10
|
| Ensembl Gene |
ENSMUSG00000063268 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 10 |
| Synonyms |
|
| MMRRC Submission |
042656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5066 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76117195-76127640 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 76125146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075689]
[ENSMUST00000165738]
|
| AlphaFold |
Q8CIE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075689
|
| SMART Domains |
Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
9 |
72 |
1e-13 |
BLAST |
|
PDB:2DHX|A
|
9 |
98 |
1e-30 |
PDB |
|
low complexity region
|
183 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
593 |
N/A |
INTRINSIC |
|
UIM
|
605 |
624 |
9.27e1 |
SMART |
|
UIM
|
628 |
647 |
1.88e1 |
SMART |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
Pfam:PARP
|
766 |
954 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165738
|
| SMART Domains |
Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
9 |
72 |
1e-13 |
BLAST |
|
PDB:2DHX|A
|
9 |
98 |
1e-30 |
PDB |
|
low complexity region
|
183 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
566 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
593 |
N/A |
INTRINSIC |
|
UIM
|
605 |
624 |
9.27e1 |
SMART |
|
UIM
|
628 |
647 |
1.88e1 |
SMART |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
Pfam:PARP
|
766 |
954 |
8.1e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166151
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
T |
11: 70,507,417 (GRCm39) |
Y154F |
probably benign |
Het |
| Abca5 |
A |
T |
11: 110,200,176 (GRCm39) |
|
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,622,364 (GRCm39) |
D11V |
probably damaging |
Het |
| Aldh1a2 |
G |
A |
9: 71,188,982 (GRCm39) |
A299T |
possibly damaging |
Het |
| Apc |
T |
A |
18: 34,449,158 (GRCm39) |
V1984D |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Atp13a2 |
G |
A |
4: 140,732,449 (GRCm39) |
V905M |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,489,420 (GRCm39) |
G731R |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,836,113 (GRCm39) |
V1131A |
possibly damaging |
Het |
| Bcl2l13 |
T |
A |
6: 120,863,982 (GRCm39) |
V312E |
possibly damaging |
Het |
| Chic2 |
A |
G |
5: 75,187,817 (GRCm39) |
V81A |
possibly damaging |
Het |
| Drg1 |
A |
T |
11: 3,209,353 (GRCm39) |
I122N |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,611,490 (GRCm39) |
D444G |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,524,990 (GRCm39) |
N612S |
possibly damaging |
Het |
| Hadhb |
T |
C |
5: 30,369,094 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
G |
T |
16: 33,559,041 (GRCm39) |
R856S |
probably benign |
Het |
| Ice2 |
A |
C |
9: 69,315,573 (GRCm39) |
N143T |
probably benign |
Het |
| Igkv8-21 |
G |
A |
6: 70,292,427 (GRCm39) |
Q4* |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,403,448 (GRCm39) |
S524P |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,703,229 (GRCm39) |
A59S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,513,002 (GRCm39) |
E33G |
possibly damaging |
Het |
| Msantd5l |
A |
G |
11: 51,145,251 (GRCm39) |
F112S |
probably damaging |
Het |
| Nedd4 |
T |
A |
9: 72,617,801 (GRCm39) |
D187E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,991,868 (GRCm39) |
I519V |
probably benign |
Het |
| Or10p22 |
G |
A |
10: 128,826,660 (GRCm39) |
R293Q |
probably damaging |
Het |
| Or6c204 |
T |
C |
10: 129,022,433 (GRCm39) |
I286V |
possibly damaging |
Het |
| Padi1 |
T |
C |
4: 140,556,748 (GRCm39) |
N153S |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,900,514 (GRCm39) |
M1051K |
probably damaging |
Het |
| Slc2a7 |
T |
A |
4: 150,244,573 (GRCm39) |
M347K |
probably damaging |
Het |
| Slc45a2 |
C |
A |
15: 11,012,693 (GRCm39) |
T232K |
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Spata13 |
T |
C |
14: 60,987,538 (GRCm39) |
Y899H |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,281,026 (GRCm39) |
I26F |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,541,040 (GRCm39) |
C341R |
probably damaging |
Het |
| Syk |
T |
A |
13: 52,796,018 (GRCm39) |
S538T |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,013,325 (GRCm39) |
T2840A |
probably benign |
Het |
| Thsd4 |
A |
G |
9: 59,883,615 (GRCm39) |
C924R |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,076,504 (GRCm39) |
S175P |
probably benign |
Het |
| Tmbim4 |
C |
T |
10: 120,053,537 (GRCm39) |
T112M |
probably benign |
Het |
| Tmprss11a |
A |
G |
5: 86,567,859 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
A |
4: 63,893,466 (GRCm39) |
D1698Y |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,927,539 (GRCm39) |
Y18H |
probably benign |
Het |
|
| Other mutations in Parp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01376:Parp10
|
APN |
15 |
76,125,877 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01419:Parp10
|
APN |
15 |
76,125,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Parp10
|
UTSW |
15 |
76,125,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0053:Parp10
|
UTSW |
15 |
76,126,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0053:Parp10
|
UTSW |
15 |
76,126,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Parp10
|
UTSW |
15 |
76,127,266 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0207:Parp10
|
UTSW |
15 |
76,126,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1300:Parp10
|
UTSW |
15 |
76,126,190 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1412:Parp10
|
UTSW |
15 |
76,127,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1510:Parp10
|
UTSW |
15 |
76,125,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Parp10
|
UTSW |
15 |
76,126,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1875:Parp10
|
UTSW |
15 |
76,127,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Parp10
|
UTSW |
15 |
76,117,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2351:Parp10
|
UTSW |
15 |
76,127,056 (GRCm39) |
missense |
probably benign |
|
|
R4027:Parp10
|
UTSW |
15 |
76,125,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4659:Parp10
|
UTSW |
15 |
76,127,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Parp10
|
UTSW |
15 |
76,117,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4828:Parp10
|
UTSW |
15 |
76,127,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5090:Parp10
|
UTSW |
15 |
76,125,925 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5495:Parp10
|
UTSW |
15 |
76,127,366 (GRCm39) |
missense |
probably benign |
|
|
R6271:Parp10
|
UTSW |
15 |
76,126,202 (GRCm39) |
missense |
probably benign |
|
|
R6335:Parp10
|
UTSW |
15 |
76,126,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6503:Parp10
|
UTSW |
15 |
76,126,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6606:Parp10
|
UTSW |
15 |
76,124,308 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6868:Parp10
|
UTSW |
15 |
76,127,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7197:Parp10
|
UTSW |
15 |
76,126,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8496:Parp10
|
UTSW |
15 |
76,117,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8678:Parp10
|
UTSW |
15 |
76,117,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Parp10
|
UTSW |
15 |
76,125,964 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0027:Parp10
|
UTSW |
15 |
76,125,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAGACTCCAAGGACCGG -3'
(R):5'- GAGTACGTCCTGCGGTCTTTTC -3'
Sequencing Primer
(F):5'- CTCCAAGGACCGGTGGATAG -3'
(R):5'- GTCCTGCGGTCTTTTCTTAACAATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation