Incidental Mutation 'R1412:Parp10'
| ID |
159650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp10
|
| Ensembl Gene |
ENSMUSG00000063268 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 10 |
| Synonyms |
|
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76117195-76127640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76127284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 51
(L51P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023225]
[ENSMUST00000075689]
[ENSMUST00000075689]
[ENSMUST00000165738]
[ENSMUST00000165738]
[ENSMUST00000229380]
[ENSMUST00000229772]
[ENSMUST00000230347]
|
| AlphaFold |
Q8CIE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023225
|
| SMART Domains |
Protein: ENSMUSP00000023225
Gene: ENSMUSG00000022564
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
101 |
N/A |
INTRINSIC |
|
Pfam:Bax1-I
|
133 |
340 |
6.9e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075689
AA Change: L51P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: L51P
| 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 damaging
Transcript: ENSMUST00000075689
AA Change: L51P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: L51P
| 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 damaging
Transcript: ENSMUST00000165738
AA Change: L51P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: L51P
| 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 damaging
Transcript: ENSMUST00000165738
AA Change: L51P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: L51P
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229380
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229916
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230347
|
| Meta Mutation Damage Score |
0.3957 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Raly |
A |
G |
2: 154,699,315 (GRCm39) |
T40A |
possibly damaging |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly damaging |
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 |
|
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 |
|
R5066:Parp10
|
UTSW |
15 |
76,125,146 (GRCm39) |
splice site |
probably benign |
|
|
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'- TGTTGCTCCAGACTCAGAGGTGAAG -3'
(R):5'- AGGCATAACTGACTGGCCTGAGAC -3'
Sequencing Primer
(F):5'- TGTTGGAGAAGCACACGTTC -3'
(R):5'- TGAGACACTGGCCTGAGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation