Incidental Mutation 'IGL01376:Parp10'
| ID |
78720 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parp10
|
| Ensembl Gene |
ENSMUSG00000063268 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 10 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
IGL01376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76117195-76127640 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76125877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 437
(T437K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075689]
[ENSMUST00000165738]
|
| AlphaFold |
Q8CIE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075689
AA Change: T437K
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000075110
Gene: ENSMUSG00000063268
AA Change: T437K
| 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: T437K
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129765
Gene: ENSMUSG00000063268
AA Change: T437K
| 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
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
| Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
| Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
| Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
| Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
| Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
| Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
| Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
| Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
| Mlkl |
A |
G |
8: 112,046,379 (GRCm39) |
L298P |
probably damaging |
Het |
| Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
| Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
| Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
| Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
probably benign |
Het |
|
| Other mutations in Parp10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation