Incidental Mutation 'R5040:Trp53bp2'
| ID |
393146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53bp2
|
| Ensembl Gene |
ENSMUSG00000026510 |
| Gene Name |
transformation related protein 53 binding protein 2 |
| Synonyms |
53BP2, ASPP2 |
| MMRRC Submission |
042630-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5040 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
182236737-182289997 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 182272271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 460
(R460H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117245]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117245
AA Change: R460H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: R460H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2UWQ|A
|
4 |
89 |
1e-53 |
PDB |
|
Blast:RA
|
10 |
91 |
7e-50 |
BLAST |
|
coiled coil region
|
129 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
512 |
N/A |
INTRINSIC |
|
PDB:4IRV|H
|
728 |
788 |
5e-25 |
PDB |
|
low complexity region
|
865 |
890 |
N/A |
INTRINSIC |
|
ANK
|
964 |
993 |
2.52e-6 |
SMART |
|
ANK
|
997 |
1026 |
7.13e-6 |
SMART |
|
SH3
|
1066 |
1124 |
6.2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191804
|
| Meta Mutation Damage Score |
0.2922 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,669,578 (GRCm39) |
Q159R |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,555,228 (GRCm39) |
I446V |
possibly damaging |
Het |
| Areg |
A |
T |
5: 91,292,198 (GRCm39) |
H166L |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 43,734,825 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
T |
C |
7: 100,526,032 (GRCm39) |
D874G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,872,932 (GRCm39) |
T452A |
probably damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,566 (GRCm39) |
T208S |
probably benign |
Het |
| Chst11 |
T |
A |
10: 83,026,780 (GRCm39) |
L69Q |
probably benign |
Het |
| Clec2d |
G |
A |
6: 129,161,793 (GRCm39) |
R142K |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,785,059 (GRCm39) |
I303F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 6,992,625 (GRCm39) |
Y3979H |
probably benign |
Het |
| Ehmt1 |
A |
T |
2: 24,774,316 (GRCm39) |
C162S |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,824,200 (GRCm39) |
M239I |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,506,284 (GRCm39) |
D41G |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,382,317 (GRCm39) |
D284V |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,476,417 (GRCm39) |
A1821V |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,312,319 (GRCm39) |
A745T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,765,771 (GRCm39) |
L491P |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,863,326 (GRCm39) |
L396P |
probably damaging |
Het |
| Gyg1 |
A |
G |
3: 20,176,823 (GRCm39) |
|
probably benign |
Het |
| Hhip |
C |
A |
8: 80,724,235 (GRCm39) |
V336L |
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,707,816 (GRCm39) |
P660S |
possibly damaging |
Het |
| Hnrnpul1 |
G |
A |
7: 25,442,414 (GRCm39) |
T276I |
possibly damaging |
Het |
| Ifnl2 |
G |
T |
7: 28,208,511 (GRCm39) |
R147S |
possibly damaging |
Het |
| Ilvbl |
A |
G |
10: 78,419,152 (GRCm39) |
D467G |
probably damaging |
Het |
| Kcnh1 |
A |
T |
1: 192,187,783 (GRCm39) |
H748L |
probably benign |
Het |
| Lyg1 |
A |
C |
1: 37,989,892 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
G |
13: 41,183,574 (GRCm39) |
Y544H |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,046,230 (GRCm39) |
|
probably benign |
Het |
| Mogat2 |
T |
C |
7: 98,887,724 (GRCm39) |
T17A |
possibly damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,970 (GRCm39) |
S847P |
probably damaging |
Het |
| Nprl2 |
T |
G |
9: 107,419,599 (GRCm39) |
C9G |
probably null |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,307 (GRCm39) |
|
noncoding transcript |
Het |
| Pcmtd1 |
T |
C |
1: 7,190,599 (GRCm39) |
Y23H |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,790,234 (GRCm39) |
H972Q |
probably benign |
Het |
| Rbm26 |
A |
G |
14: 105,358,452 (GRCm39) |
I929T |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,709 (GRCm39) |
T60A |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,156 (GRCm39) |
I398N |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,350 (GRCm39) |
E206G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,859,915 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
C |
T |
1: 89,071,962 (GRCm39) |
S270L |
probably damaging |
Het |
| Stac3 |
T |
C |
10: 127,343,993 (GRCm39) |
I297T |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,927,914 (GRCm39) |
T566I |
probably benign |
Het |
| Supv3l1 |
A |
T |
10: 62,282,844 (GRCm39) |
V139E |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,358,978 (GRCm39) |
H178Q |
probably damaging |
Het |
| Tamalin |
G |
A |
15: 101,126,923 (GRCm39) |
V134I |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,588,453 (GRCm39) |
M344K |
possibly damaging |
Het |
| Tcstv7a |
C |
T |
13: 120,290,025 (GRCm39) |
W57* |
probably null |
Het |
| Tmc1 |
A |
G |
19: 20,801,394 (GRCm39) |
V502A |
possibly damaging |
Het |
| Tmco4 |
G |
T |
4: 138,747,477 (GRCm39) |
G242V |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,746 (GRCm39) |
C1328S |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,364,875 (GRCm39) |
D12G |
probably damaging |
Het |
| Zfp457 |
C |
T |
13: 67,440,899 (GRCm39) |
A463T |
probably benign |
Het |
|
| Other mutations in Trp53bp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Trp53bp2
|
APN |
1 |
182,268,541 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL00920:Trp53bp2
|
APN |
1 |
182,272,219 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01336:Trp53bp2
|
APN |
1 |
182,259,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01760:Trp53bp2
|
APN |
1 |
182,275,993 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02539:Trp53bp2
|
APN |
1 |
182,276,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02609:Trp53bp2
|
APN |
1 |
182,281,289 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02720:Trp53bp2
|
APN |
1 |
182,281,289 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02962:Trp53bp2
|
APN |
1 |
182,259,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03348:Trp53bp2
|
APN |
1 |
182,281,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ganglion
|
UTSW |
1 |
182,256,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nosa
|
UTSW |
1 |
182,283,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Trp53bp2
|
UTSW |
1 |
182,272,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Trp53bp2
|
UTSW |
1 |
182,272,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:Trp53bp2
|
UTSW |
1 |
182,269,213 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1422:Trp53bp2
|
UTSW |
1 |
182,274,029 (GRCm39) |
missense |
probably benign |
|
|
R1833:Trp53bp2
|
UTSW |
1 |
182,256,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1845:Trp53bp2
|
UTSW |
1 |
182,286,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Trp53bp2
|
UTSW |
1 |
182,259,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1927:Trp53bp2
|
UTSW |
1 |
182,280,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2017:Trp53bp2
|
UTSW |
1 |
182,276,580 (GRCm39) |
missense |
probably benign |
|
|
R2020:Trp53bp2
|
UTSW |
1 |
182,270,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Trp53bp2
|
UTSW |
1 |
182,286,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Trp53bp2
|
UTSW |
1 |
182,269,204 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2504:Trp53bp2
|
UTSW |
1 |
182,269,204 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2970:Trp53bp2
|
UTSW |
1 |
182,259,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3051:Trp53bp2
|
UTSW |
1 |
182,281,347 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3052:Trp53bp2
|
UTSW |
1 |
182,281,347 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3053:Trp53bp2
|
UTSW |
1 |
182,281,347 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3151:Trp53bp2
|
UTSW |
1 |
182,256,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Trp53bp2
|
UTSW |
1 |
182,276,626 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4757:Trp53bp2
|
UTSW |
1 |
182,286,339 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4785:Trp53bp2
|
UTSW |
1 |
182,276,562 (GRCm39) |
missense |
probably benign |
|
|
R4817:Trp53bp2
|
UTSW |
1 |
182,269,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4836:Trp53bp2
|
UTSW |
1 |
182,259,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5882:Trp53bp2
|
UTSW |
1 |
182,269,777 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6007:Trp53bp2
|
UTSW |
1 |
182,283,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Trp53bp2
|
UTSW |
1 |
182,276,562 (GRCm39) |
missense |
probably benign |
|
|
R6886:Trp53bp2
|
UTSW |
1 |
182,256,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6987:Trp53bp2
|
UTSW |
1 |
182,274,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7026:Trp53bp2
|
UTSW |
1 |
182,270,300 (GRCm39) |
missense |
probably benign |
|
|
R7141:Trp53bp2
|
UTSW |
1 |
182,276,073 (GRCm39) |
missense |
|
|
|
R7363:Trp53bp2
|
UTSW |
1 |
182,272,231 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7452:Trp53bp2
|
UTSW |
1 |
182,274,133 (GRCm39) |
nonsense |
probably null |
|
|
R7816:Trp53bp2
|
UTSW |
1 |
182,276,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7838:Trp53bp2
|
UTSW |
1 |
182,283,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8729:Trp53bp2
|
UTSW |
1 |
182,276,587 (GRCm39) |
missense |
probably benign |
|
|
R8850:Trp53bp2
|
UTSW |
1 |
182,256,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Trp53bp2
|
UTSW |
1 |
182,273,971 (GRCm39) |
missense |
|
|
|
R8982:Trp53bp2
|
UTSW |
1 |
182,263,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8988:Trp53bp2
|
UTSW |
1 |
182,268,433 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9135:Trp53bp2
|
UTSW |
1 |
182,286,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9424:Trp53bp2
|
UTSW |
1 |
182,273,864 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9563:Trp53bp2
|
UTSW |
1 |
182,276,378 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGACAGTTTATGAAAGCAC -3'
(R):5'- GACACCCACTGTATTTTCCAATG -3'
Sequencing Primer
(F):5'- GACAGTTTATGAAAGCACTTGGC -3'
(R):5'- TTTGTTCTTCCTCACAGACAATAC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation