Incidental Mutation 'PIT4544001:Parpbp'
ID |
556419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parpbp
|
Ensembl Gene |
ENSMUSG00000035365 |
Gene Name |
PARP1 binding protein |
Synonyms |
4930547N16Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4544001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
87927294-87982803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 87950411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 323
(V323A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048518]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048518
AA Change: V323A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038375 Gene: ENSMUSG00000035365 AA Change: V323A
Domain | Start | End | E-Value | Type |
SCOP:d1pjr_2
|
154 |
268 |
8e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 92.9%
- 3x: 90.6%
- 10x: 84.5%
- 20x: 71.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,222,943 (GRCm39) |
D248G |
probably damaging |
Het |
Abcc12 |
A |
T |
8: 87,231,875 (GRCm39) |
M1358K |
possibly damaging |
Het |
Adgrl2 |
C |
T |
3: 148,596,157 (GRCm39) |
E60K |
probably damaging |
Het |
Aff3 |
C |
T |
1: 38,249,443 (GRCm39) |
A555T |
probably benign |
Het |
Aspn |
A |
T |
13: 49,707,458 (GRCm39) |
K106* |
probably null |
Het |
Atp8b3 |
A |
T |
10: 80,366,420 (GRCm39) |
L281Q |
probably benign |
Het |
Ccdc54 |
A |
T |
16: 50,410,343 (GRCm39) |
C308S |
possibly damaging |
Het |
Cpa1 |
T |
C |
6: 30,641,857 (GRCm39) |
V227A |
probably benign |
Het |
Dld |
G |
A |
12: 31,385,556 (GRCm39) |
Q262* |
probably null |
Het |
Eif4e3 |
A |
T |
6: 99,609,314 (GRCm39) |
W161R |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,471 (GRCm39) |
T178S |
possibly damaging |
Het |
Erbb2 |
A |
T |
11: 98,311,865 (GRCm39) |
T134S |
probably benign |
Het |
Golga3 |
A |
T |
5: 110,336,556 (GRCm39) |
E358D |
possibly damaging |
Het |
Gon7 |
A |
T |
12: 102,720,409 (GRCm39) |
D74E |
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,318,262 (GRCm39) |
E3869G |
probably damaging |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,415 (GRCm39) |
M347I |
possibly damaging |
Het |
Ipo5 |
T |
A |
14: 121,165,949 (GRCm39) |
D331E |
probably damaging |
Het |
Mep1a |
C |
T |
17: 43,793,178 (GRCm39) |
C355Y |
probably damaging |
Het |
Nkain1 |
A |
G |
4: 130,532,098 (GRCm38) |
S196P |
probably damaging |
Het |
Nudt21 |
A |
T |
8: 94,746,225 (GRCm39) |
F158I |
unknown |
Het |
Padi3 |
T |
C |
4: 140,518,794 (GRCm39) |
T443A |
probably benign |
Het |
Phkb |
A |
G |
8: 86,738,266 (GRCm39) |
I520V |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,334,411 (GRCm39) |
S73P |
probably benign |
Het |
Rfk |
T |
C |
19: 17,372,708 (GRCm39) |
S77P |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 141,941,987 (GRCm39) |
N545S |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,380,232 (GRCm39) |
N1349S |
probably damaging |
Het |
Slc22a27 |
T |
A |
19: 7,887,103 (GRCm39) |
Q262L |
probably damaging |
Het |
Slc34a3 |
T |
C |
2: 25,120,607 (GRCm39) |
D440G |
probably benign |
Het |
Slc4a4 |
T |
C |
5: 89,186,402 (GRCm39) |
L161P |
probably damaging |
Het |
Stxbp5 |
A |
C |
10: 9,693,048 (GRCm39) |
|
probably null |
Het |
Tekt1 |
C |
T |
11: 72,245,660 (GRCm39) |
R165H |
probably damaging |
Het |
Tmpo |
T |
C |
10: 90,997,976 (GRCm39) |
N604D |
probably benign |
Het |
Trpm1 |
A |
T |
7: 63,848,998 (GRCm39) |
|
probably benign |
Het |
Ubqln3 |
A |
C |
7: 103,790,550 (GRCm39) |
H513Q |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,129,871 (GRCm39) |
N664D |
possibly damaging |
Het |
Usp37 |
G |
A |
1: 74,509,738 (GRCm39) |
T477I |
possibly damaging |
Het |
Zbtb11 |
T |
G |
16: 55,818,556 (GRCm39) |
L660* |
probably null |
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 |
|
IGL03013:Parpbp
|
APN |
10 |
87,975,840 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4468001:Parpbp
|
UTSW |
10 |
87,979,935 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCTAAGCACCTTAAGTATTAAG -3'
(R):5'- TAGCACTGAGAAGTAAGTTTGAAGC -3'
Sequencing Primer
(F):5'- CTGACTTAAGTAGCAACAGC -3'
(R):5'- AGCTGATCAAAGGCCACA -3'
|
Posted On |
2019-06-07 |