Incidental Mutation 'R6656:Parpbp'
ID |
526630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parpbp
|
Ensembl Gene |
ENSMUSG00000035365 |
Gene Name |
PARP1 binding protein |
Synonyms |
4930547N16Rik |
MMRRC Submission |
044777-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6656 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
87927294-87982803 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87946175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 415
(T415A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038375
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048518]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048518
AA Change: T415A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038375 Gene: ENSMUSG00000035365 AA Change: T415A
Domain | Start | End | E-Value | Type |
SCOP:d1pjr_2
|
154 |
268 |
8e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
Cyp2b19 |
C |
T |
7: 26,466,280 (GRCm39) |
T361I |
probably benign |
Het |
D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
Ehf |
T |
C |
2: 103,113,928 (GRCm39) |
N23S |
probably damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
Fbxo4 |
C |
T |
15: 4,005,305 (GRCm39) |
V192M |
probably damaging |
Het |
Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
Keg1 |
C |
T |
19: 12,686,994 (GRCm39) |
Q8* |
probably null |
Het |
Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
Tktl2 |
T |
C |
8: 66,965,381 (GRCm39) |
V313A |
probably benign |
Het |
Tmem63b |
C |
A |
17: 45,978,634 (GRCm39) |
R325L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
probably 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 |
|
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 |
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 |
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'- CCTACGGACACAGCTTCTTTG -3'
(R):5'- ACTGCCCTCAGCCCTTTTAAAG -3'
Sequencing Primer
(F):5'- CAGTAAATTAACATGCCACAGATAGG -3'
(R):5'- AAAGGCCTTCCCTCTTCCTGG -3'
|
Posted On |
2018-07-23 |