Incidental Mutation 'R0053:Parp10'
| ID |
64343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp10
|
| Ensembl Gene |
ENSMUSG00000063268 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 10 |
| Synonyms |
|
| MMRRC Submission |
038347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R0053 (G1)
|
| Quality Score |
103 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76117195-76127640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76126446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 247
(L247F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023225]
[ENSMUST00000075689]
[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: L247F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: L247F
| 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: L247F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: L247F
| 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 |
probably benign
Transcript: ENSMUST00000230347
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
T |
2: 163,574,212 (GRCm39) |
V148D |
probably damaging |
Het |
| Alpi |
T |
C |
1: 87,026,512 (GRCm39) |
D493G |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,107,391 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
A |
T |
8: 21,434,546 (GRCm39) |
|
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,710,712 (GRCm39) |
T205I |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,318 (GRCm39) |
I413V |
possibly damaging |
Het |
| Cblb |
C |
T |
16: 51,963,164 (GRCm39) |
T369I |
probably damaging |
Het |
| Ccdc54 |
T |
A |
16: 50,410,597 (GRCm39) |
N223I |
probably benign |
Het |
| Cdc25c |
A |
G |
18: 34,868,488 (GRCm39) |
V294A |
probably benign |
Het |
| Cep170 |
A |
T |
1: 176,609,946 (GRCm39) |
S122T |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,967,451 (GRCm39) |
N849D |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,023 (GRCm39) |
W2051R |
probably benign |
Het |
| Dpp3 |
A |
G |
19: 4,973,154 (GRCm39) |
C147R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,631 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
T |
A |
8: 85,791,083 (GRCm39) |
L250Q |
probably damaging |
Het |
| Gpr75 |
A |
T |
11: 30,842,571 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Gramd4 |
T |
A |
15: 86,014,339 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,007,865 (GRCm39) |
C1488R |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Inava |
C |
T |
1: 136,155,288 (GRCm39) |
V106I |
probably benign |
Het |
| Insr |
A |
G |
8: 3,205,683 (GRCm39) |
S1369P |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,707,759 (GRCm39) |
D67A |
probably damaging |
Het |
| Irf2 |
T |
A |
8: 47,271,886 (GRCm39) |
Y158N |
probably benign |
Het |
| Katnbl1 |
A |
G |
2: 112,234,586 (GRCm39) |
R23G |
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,363,936 (GRCm39) |
C987* |
probably null |
Het |
| Lzts2 |
T |
C |
19: 45,014,746 (GRCm39) |
|
probably benign |
Het |
| Mmp14 |
T |
A |
14: 54,676,109 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
A |
G |
11: 94,402,562 (GRCm39) |
Y258H |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,602,778 (GRCm39) |
|
probably benign |
Het |
| Or10j7 |
T |
C |
1: 173,011,845 (GRCm39) |
D52G |
probably benign |
Het |
| Or4c100 |
T |
A |
2: 88,356,507 (GRCm39) |
N193K |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,633,451 (GRCm39) |
|
probably benign |
Het |
| Pgap3 |
A |
T |
11: 98,281,924 (GRCm39) |
V129D |
probably benign |
Het |
| Pibf1 |
A |
G |
14: 99,377,993 (GRCm39) |
Y373C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,835 (GRCm39) |
E310G |
probably benign |
Het |
| Plin3 |
T |
C |
17: 56,586,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Pole |
A |
T |
5: 110,441,206 (GRCm39) |
D220V |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,351,105 (GRCm39) |
F533I |
probably damaging |
Het |
| Resf1 |
T |
A |
6: 149,229,088 (GRCm39) |
D711E |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,292,292 (GRCm39) |
M499K |
probably benign |
Het |
| Scn1a |
T |
G |
2: 66,130,119 (GRCm39) |
D1232A |
probably benign |
Het |
| Sec23ip |
T |
C |
7: 128,346,891 (GRCm39) |
L49P |
probably damaging |
Het |
| Sf3b1 |
G |
A |
1: 55,039,532 (GRCm39) |
Q698* |
probably null |
Het |
| Shprh |
A |
T |
10: 11,070,116 (GRCm39) |
|
probably null |
Het |
| Snd1 |
C |
A |
6: 28,745,334 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,644 (GRCm39) |
A2260T |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 138,918,082 (GRCm39) |
Q60R |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,363 (GRCm39) |
H687R |
possibly damaging |
Het |
| Tgfb3 |
A |
T |
12: 86,124,603 (GRCm39) |
I35N |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,852,765 (GRCm39) |
S166P |
probably damaging |
Het |
| Tyw5 |
G |
A |
1: 57,440,597 (GRCm39) |
T55M |
probably damaging |
Het |
| Usp19 |
A |
G |
9: 108,374,369 (GRCm39) |
|
probably null |
Het |
| Zfp13 |
A |
T |
17: 23,795,122 (GRCm39) |
I483N |
probably 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 |
|
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 |
|
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'- ACTGGATCGACTGGGCTTGTAGAC -3'
(R):5'- CCTTTCAGCAATGGCAGGGTAAGTG -3'
Sequencing Primer
(F):5'- ATTGATCCCGAGTCAACTGG -3'
(R):5'- GGTGTCTGAAATTAGGAGGACCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation