Incidental Mutation 'R5495:Parp10'
| ID |
432308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parp10
|
| Ensembl Gene |
ENSMUSG00000063268 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 10 |
| Synonyms |
|
| MMRRC Submission |
043056-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5495 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76117195-76127640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 76127366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 24
(I24L)
|
| 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 benign
Transcript: ENSMUST00000075689
AA Change: I24L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: I24L
| 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
AA Change: I24L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: I24L
| 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
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.4%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,335,594 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
T |
G |
3: 121,808,578 (GRCm39) |
M844R |
probably damaging |
Het |
| Atp1a1 |
T |
G |
3: 101,498,741 (GRCm39) |
D184A |
probably benign |
Het |
| Bcl11a |
T |
A |
11: 24,115,042 (GRCm39) |
V795E |
possibly damaging |
Het |
| Casp12 |
T |
A |
9: 5,353,797 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ccdc59 |
A |
G |
10: 105,681,239 (GRCm39) |
K164E |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,062,431 (GRCm39) |
G30S |
possibly damaging |
Het |
| Dgkd |
A |
G |
1: 87,854,594 (GRCm39) |
D632G |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,687,258 (GRCm39) |
K56E |
possibly damaging |
Het |
| Egflam |
T |
A |
15: 7,280,722 (GRCm39) |
R434S |
probably damaging |
Het |
| Fancl |
C |
G |
11: 26,347,801 (GRCm39) |
A51G |
probably damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,493,638 (GRCm39) |
Y185C |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,197,673 (GRCm39) |
|
probably null |
Het |
| Galnt15 |
A |
G |
14: 31,751,774 (GRCm39) |
S109G |
probably damaging |
Het |
| Gramd2b |
T |
C |
18: 56,615,694 (GRCm39) |
I163T |
probably damaging |
Het |
| Impa1 |
A |
G |
3: 10,391,230 (GRCm39) |
V80A |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,554,687 (GRCm39) |
M56T |
possibly damaging |
Het |
| Larp1b |
G |
T |
3: 40,990,257 (GRCm39) |
R135I |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,495 (GRCm39) |
A71T |
probably damaging |
Het |
| Lmbr1 |
A |
T |
5: 29,551,851 (GRCm39) |
L78* |
probably null |
Het |
| Lrat |
C |
A |
3: 82,804,289 (GRCm39) |
M229I |
probably benign |
Het |
| Mug2 |
A |
T |
6: 122,056,609 (GRCm39) |
M1185L |
probably damaging |
Het |
| Naprt |
T |
C |
15: 75,765,696 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
A |
G |
8: 108,095,079 (GRCm39) |
I1107V |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,387 (GRCm39) |
Y22C |
probably damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,790,906 (GRCm39) |
Q526K |
probably benign |
Het |
| Or2d4 |
C |
A |
7: 106,543,699 (GRCm39) |
G170* |
probably null |
Het |
| Or3a10 |
G |
A |
11: 73,935,611 (GRCm39) |
T163I |
probably damaging |
Het |
| Or4p21 |
T |
C |
2: 88,276,401 (GRCm39) |
T294A |
probably benign |
Het |
| Or8g36 |
T |
C |
9: 39,422,441 (GRCm39) |
T192A |
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,144,079 (GRCm39) |
T57A |
probably benign |
Het |
| Prdm8 |
A |
G |
5: 98,333,165 (GRCm39) |
E244G |
possibly damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,496,654 (GRCm39) |
S3P |
possibly damaging |
Het |
| Rab11fip3 |
T |
A |
17: 26,235,117 (GRCm39) |
T18S |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,941,004 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
G |
T |
14: 75,279,777 (GRCm39) |
V387F |
possibly damaging |
Het |
| S100a7l2 |
A |
T |
3: 90,997,602 (GRCm39) |
L38M |
possibly damaging |
Het |
| Serpinb12 |
T |
C |
1: 106,884,151 (GRCm39) |
L299P |
probably damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
T |
10: 23,837,181 (GRCm39) |
I264F |
possibly damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,523,570 (GRCm39) |
H124Q |
probably damaging |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,746 (GRCm39) |
Q184L |
probably benign |
Het |
| Vnn1 |
T |
A |
10: 23,774,462 (GRCm39) |
F168L |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,468,670 (GRCm39) |
L267P |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,772,354 (GRCm39) |
S1621G |
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 |
|
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 |
|
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'- GACCCTCTTTGCATCTGTGAGC -3'
(R):5'- TAACTGACTGGCCTGAGACAC -3'
Sequencing Primer
(F):5'- TCTGTGAGCAGAGATGAAAGTGTC -3'
(R):5'- TGAGACACTGGCCTGAGAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation