Incidental Mutation 'IGL03013:Parpbp'
| ID |
407848 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parpbp
|
| Ensembl Gene |
ENSMUSG00000035365 |
| Gene Name |
PARP1 binding protein |
| Synonyms |
4930547N16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
87927294-87982803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87975840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 91
(I91T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048518]
[ENSMUST00000164121]
[ENSMUST00000164803]
[ENSMUST00000168163]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048518
AA Change: I91T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038375
Gene: ENSMUSG00000035365
AA Change: I91T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_2
|
154 |
268 |
8e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164121
AA Change: I91T
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130777
Gene: ENSMUSG00000035365
AA Change: I91T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1pjr_2
|
154 |
202 |
4e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164803
AA Change: I91T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168163
AA Change: I91T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218993
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| B3galt6 |
G |
A |
4: 156,076,215 (GRCm39) |
Q287* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,435 (GRCm39) |
V353A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,204,995 (GRCm39) |
M118K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,296 (GRCm39) |
N298D |
probably benign |
Het |
| Exog |
T |
C |
9: 119,291,679 (GRCm39) |
S295P |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,537,571 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,632 (GRCm39) |
L360S |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,399,023 (GRCm39) |
I70V |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,103 (GRCm39) |
I205L |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,151,737 (GRCm39) |
V313A |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 141,357,147 (GRCm39) |
I148V |
probably benign |
Het |
| Mapk14 |
G |
T |
17: 28,947,323 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,891 (GRCm39) |
M123K |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,561,690 (GRCm39) |
D205G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,417,665 (GRCm39) |
H3537L |
possibly damaging |
Het |
| Nde1 |
C |
T |
16: 14,009,611 (GRCm39) |
P324L |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,782,750 (GRCm39) |
H888L |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,447,819 (GRCm39) |
F319L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,361 (GRCm39) |
V156A |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,289,945 (GRCm39) |
I99T |
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,432,003 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,037 (GRCm39) |
T128A |
possibly damaging |
Het |
| Pramel33 |
A |
T |
5: 93,630,391 (GRCm39) |
S394T |
probably damaging |
Het |
| Prkcb |
C |
A |
7: 122,226,905 (GRCm39) |
D630E |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,349 (GRCm39) |
V5A |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,446 (GRCm39) |
S100P |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,429,255 (GRCm39) |
T192A |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,381,461 (GRCm39) |
A1046T |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,973,813 (GRCm39) |
F366S |
probably damaging |
Het |
| Serpinb9d |
T |
A |
13: 33,380,521 (GRCm39) |
W136R |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,442,280 (GRCm39) |
V66F |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,976,111 (GRCm39) |
A1187V |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,049 (GRCm39) |
M442I |
possibly damaging |
Het |
|
| Other mutations in Parpbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01386:Parpbp
|
APN |
10 |
87,975,848 (GRCm39) |
nonsense |
probably null |
|
|
IGL02058:Parpbp
|
APN |
10 |
87,979,898 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02222:Parpbp
|
APN |
10 |
87,975,947 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02976:Parpbp
|
APN |
10 |
87,947,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4468001:Parpbp
|
UTSW |
10 |
87,979,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4544001:Parpbp
|
UTSW |
10 |
87,950,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0145:Parpbp
|
UTSW |
10 |
87,928,871 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0201:Parpbp
|
UTSW |
10 |
87,928,758 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0471:Parpbp
|
UTSW |
10 |
87,929,569 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2057:Parpbp
|
UTSW |
10 |
87,960,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2350:Parpbp
|
UTSW |
10 |
87,968,950 (GRCm39) |
splice site |
probably benign |
|
|
R4551:Parpbp
|
UTSW |
10 |
87,929,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4552:Parpbp
|
UTSW |
10 |
87,929,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5843:Parpbp
|
UTSW |
10 |
87,969,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5951:Parpbp
|
UTSW |
10 |
87,975,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6003:Parpbp
|
UTSW |
10 |
87,969,020 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6656:Parpbp
|
UTSW |
10 |
87,946,175 (GRCm39) |
missense |
probably benign |
|
|
R7081:Parpbp
|
UTSW |
10 |
87,929,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7240:Parpbp
|
UTSW |
10 |
87,960,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7334:Parpbp
|
UTSW |
10 |
87,947,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7615:Parpbp
|
UTSW |
10 |
87,929,499 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8025:Parpbp
|
UTSW |
10 |
87,928,970 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8919:Parpbp
|
UTSW |
10 |
87,946,189 (GRCm39) |
missense |
probably null |
0.02 |
|
R8923:Parpbp
|
UTSW |
10 |
87,947,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8970:Parpbp
|
UTSW |
10 |
87,962,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9100:Parpbp
|
UTSW |
10 |
87,968,969 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9404:Parpbp
|
UTSW |
10 |
87,950,411 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9433:Parpbp
|
UTSW |
10 |
87,975,858 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9762:Parpbp
|
UTSW |
10 |
87,960,815 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2016-08-02 |
Incidental Mutation