Incidental Mutation 'R7278:Trp53bp1'
| ID |
571524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53bp1
|
| Ensembl Gene |
ENSMUSG00000043909 |
| Gene Name |
transformation related protein 53 binding protein 1 |
| Synonyms |
53BP1, p53BP1 |
| MMRRC Submission |
045360-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121023762-121101888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121029516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1838
(I1838N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000110657]
[ENSMUST00000110658]
[ENSMUST00000154426]
[ENSMUST00000186659]
|
| AlphaFold |
P70399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039541
|
| SMART Domains |
Protein: ENSMUSP00000044049
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
573 |
2.8e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110647
AA Change: I1838N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: I1838N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1332 |
N/A |
INTRINSIC |
|
Pfam:53-BP1_Tudor
|
1430 |
1551 |
2.5e-80 |
PFAM |
|
low complexity region
|
1581 |
1601 |
N/A |
INTRINSIC |
|
BRCT
|
1673 |
1785 |
7.13e-1 |
SMART |
|
BRCT
|
1813 |
1901 |
1.03e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110648
AA Change: I1888N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: I1888N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
647 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1112 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1290 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1389 |
1409 |
N/A |
INTRINSIC |
|
Pfam:53-BP1_Tudor
|
1480 |
1601 |
1.5e-80 |
PFAM |
|
low complexity region
|
1631 |
1651 |
N/A |
INTRINSIC |
|
BRCT
|
1723 |
1835 |
7.13e-1 |
SMART |
|
BRCT
|
1863 |
1951 |
1.03e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110657
|
| SMART Domains |
Protein: ENSMUSP00000106285
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
3.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110658
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154426
|
| SMART Domains |
Protein: ENSMUSP00000117548
Gene: ENSMUSG00000043909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:53-BP1_Tudor
|
1 |
70 |
2.5e-44 |
PFAM |
|
low complexity region
|
100 |
120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186659
|
| SMART Domains |
Protein: ENSMUSP00000140417
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (78/79) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutations in this gene result in growth retardation, immunodeficiency, thymic hypoplasia, and increased incidence of thymic lymphomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,237 (GRCm39) |
L142P |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,241,126 (GRCm39) |
R996S |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,151,017 (GRCm39) |
F558L |
possibly damaging |
Het |
| Acp7 |
T |
A |
7: 28,330,307 (GRCm39) |
D2V |
unknown |
Het |
| Acvr1c |
T |
C |
2: 58,174,948 (GRCm39) |
D280G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,781,380 (GRCm39) |
S1124P |
|
Het |
| B4galnt1 |
A |
T |
10: 127,003,657 (GRCm39) |
T207S |
probably benign |
Het |
| C2cd4d |
C |
A |
3: 94,271,445 (GRCm39) |
T237N |
probably benign |
Het |
| C8b |
T |
C |
4: 104,637,824 (GRCm39) |
C99R |
probably damaging |
Het |
| Ccnk |
C |
A |
12: 108,159,964 (GRCm39) |
Q149K |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,288,226 (GRCm39) |
D47G |
probably benign |
Het |
| Chid1 |
A |
T |
7: 141,109,401 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
A |
8: 120,895,342 (GRCm39) |
T187S |
possibly damaging |
Het |
| Cmya5 |
T |
A |
13: 93,232,208 (GRCm39) |
E960V |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,118 (GRCm39) |
S112P |
unknown |
Het |
| Cps1 |
G |
A |
1: 67,210,080 (GRCm39) |
V637I |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,823,102 (GRCm39) |
T390A |
probably benign |
Het |
| Cyp2c54 |
A |
T |
19: 40,058,697 (GRCm39) |
L245* |
probably null |
Het |
| Ddr2 |
G |
T |
1: 169,812,530 (GRCm39) |
T654K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,868,855 (GRCm39) |
|
probably null |
Het |
| Elavl4 |
C |
T |
4: 110,068,622 (GRCm39) |
|
probably null |
Het |
| Emilin1 |
T |
C |
5: 31,078,004 (GRCm39) |
V921A |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,113,939 (GRCm39) |
E1250D |
probably damaging |
Het |
| Fam228a |
C |
T |
12: 4,782,790 (GRCm39) |
G101E |
probably benign |
Het |
| Gemin4 |
T |
C |
11: 76,102,932 (GRCm39) |
T610A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,292,880 (GRCm39) |
M1T |
probably null |
Het |
| Gm14399 |
C |
T |
2: 174,972,252 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,509,849 (GRCm39) |
T170I |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,341 (GRCm39) |
V501A |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,533,356 (GRCm39) |
Q388L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,278,436 (GRCm39) |
D3035E |
probably damaging |
Het |
| Htr4 |
A |
T |
18: 62,545,247 (GRCm39) |
N11Y |
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,230,243 (GRCm39) |
S356P |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,764,173 (GRCm39) |
N34D |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,287,500 (GRCm39) |
D62G |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,316,696 (GRCm39) |
G2095E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,334,536 (GRCm39) |
E4407V |
possibly damaging |
Het |
| Mcm5 |
T |
C |
8: 75,851,487 (GRCm39) |
F631L |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,878,071 (GRCm39) |
S170G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,239 (GRCm39) |
D1395V |
unknown |
Het |
| Muc6 |
G |
A |
7: 141,226,842 (GRCm39) |
T1395M |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,911,468 (GRCm39) |
D300G |
probably damaging |
Het |
| Naa80 |
T |
C |
9: 107,460,498 (GRCm39) |
L131P |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,231,952 (GRCm39) |
T174A |
probably benign |
Het |
| Nek5 |
T |
A |
8: 22,580,500 (GRCm39) |
N406I |
probably benign |
Het |
| Nr2c2 |
G |
A |
6: 92,136,359 (GRCm39) |
V400I |
probably damaging |
Het |
| Or1l4 |
T |
C |
2: 37,092,092 (GRCm39) |
Y280H |
probably damaging |
Het |
| Or1l4b |
G |
T |
2: 37,037,021 (GRCm39) |
V266L |
probably benign |
Het |
| Or51aa2 |
A |
T |
7: 103,187,935 (GRCm39) |
Y169N |
probably benign |
Het |
| Or52m1 |
T |
C |
7: 102,290,190 (GRCm39) |
S246P |
probably damaging |
Het |
| Or6b1 |
G |
A |
6: 42,811,330 (GRCm39) |
|
probably null |
Het |
| Or6c5c |
T |
A |
10: 129,298,620 (GRCm39) |
I25N |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,443,927 (GRCm39) |
|
probably null |
Het |
| Pfkl |
T |
C |
10: 77,827,857 (GRCm39) |
T468A |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,768,340 (GRCm39) |
I2205T |
possibly damaging |
Het |
| Prss16 |
A |
T |
13: 22,187,317 (GRCm39) |
N442K |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,957,342 (GRCm39) |
S370P |
probably damaging |
Het |
| Ripk3 |
G |
T |
14: 56,024,741 (GRCm39) |
Y210* |
probably null |
Het |
| Rps6ka2 |
C |
A |
17: 7,539,034 (GRCm39) |
F317L |
probably damaging |
Het |
| Slc13a3 |
G |
A |
2: 165,287,448 (GRCm39) |
R169W |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,931,904 (GRCm39) |
I256N |
possibly damaging |
Het |
| Slc6a9 |
G |
A |
4: 117,725,303 (GRCm39) |
R589Q |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,875,077 (GRCm39) |
S442P |
probably damaging |
Het |
| Snupn |
T |
A |
9: 56,890,028 (GRCm39) |
M283K |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,162,087 (GRCm39) |
M395K |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
| Tlr1 |
A |
G |
5: 65,084,115 (GRCm39) |
V154A |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,835,382 (GRCm39) |
S1580P |
probably damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Trav14d-3-dv8 |
G |
A |
14: 53,316,218 (GRCm39) |
R26H |
probably benign |
Het |
| Trp53 |
C |
T |
11: 69,482,081 (GRCm39) |
L365F |
probably benign |
Het |
| Ugt1a5 |
A |
T |
1: 88,094,608 (GRCm39) |
K279* |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,591,368 (GRCm39) |
E1141G |
possibly damaging |
Het |
| Vti1b |
T |
C |
12: 79,213,153 (GRCm39) |
D49G |
probably benign |
Het |
| Wnt10a |
A |
T |
1: 74,832,641 (GRCm39) |
H78L |
possibly damaging |
Het |
| Zfp869 |
G |
A |
8: 70,159,128 (GRCm39) |
H482Y |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,598,314 (GRCm39) |
V638A |
probably damaging |
Het |
|
| Other mutations in Trp53bp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Trp53bp1
|
APN |
2 |
121,087,060 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL00690:Trp53bp1
|
APN |
2 |
121,066,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00922:Trp53bp1
|
APN |
2 |
121,038,963 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01475:Trp53bp1
|
APN |
2 |
121,100,800 (GRCm39) |
splice site |
probably null |
|
|
IGL01639:Trp53bp1
|
APN |
2 |
121,033,173 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01662:Trp53bp1
|
APN |
2 |
121,066,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01757:Trp53bp1
|
APN |
2 |
121,041,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01829:Trp53bp1
|
APN |
2 |
121,046,377 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02247:Trp53bp1
|
APN |
2 |
121,067,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02349:Trp53bp1
|
APN |
2 |
121,029,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Trp53bp1
|
APN |
2 |
121,033,191 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
chives
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
concur
|
UTSW |
2 |
121,100,800 (GRCm39) |
splice site |
probably null |
|
|
confirmation
|
UTSW |
2 |
121,035,594 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Infra
|
UTSW |
2 |
121,077,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
Legume
|
UTSW |
2 |
121,029,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
lentil
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
lentil2
|
UTSW |
2 |
121,038,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Profundus
|
UTSW |
2 |
121,038,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
split_pea
|
UTSW |
2 |
121,059,087 (GRCm39) |
nonsense |
probably null |
|
|
verily
|
UTSW |
2 |
121,041,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Trp53bp1
|
UTSW |
2 |
121,101,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Trp53bp1
|
UTSW |
2 |
121,034,978 (GRCm39) |
missense |
probably benign |
|
|
R0060:Trp53bp1
|
UTSW |
2 |
121,035,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Trp53bp1
|
UTSW |
2 |
121,035,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Trp53bp1
|
UTSW |
2 |
121,067,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0103:Trp53bp1
|
UTSW |
2 |
121,067,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0281:Trp53bp1
|
UTSW |
2 |
121,100,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Trp53bp1
|
UTSW |
2 |
121,035,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Trp53bp1
|
UTSW |
2 |
121,066,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Trp53bp1
|
UTSW |
2 |
121,100,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0522:Trp53bp1
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
R0523:Trp53bp1
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
R0525:Trp53bp1
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
R0543:Trp53bp1
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
R0559:Trp53bp1
|
UTSW |
2 |
121,058,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0573:Trp53bp1
|
UTSW |
2 |
121,058,653 (GRCm39) |
splice site |
probably benign |
|
|
R0593:Trp53bp1
|
UTSW |
2 |
121,101,009 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0648:Trp53bp1
|
UTSW |
2 |
121,066,188 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0680:Trp53bp1
|
UTSW |
2 |
121,082,349 (GRCm39) |
missense |
probably null |
0.13 |
|
R0732:Trp53bp1
|
UTSW |
2 |
121,078,745 (GRCm39) |
missense |
probably null |
0.96 |
|
R0905:Trp53bp1
|
UTSW |
2 |
121,034,799 (GRCm39) |
splice site |
probably benign |
|
|
R1377:Trp53bp1
|
UTSW |
2 |
121,101,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1415:Trp53bp1
|
UTSW |
2 |
121,066,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Trp53bp1
|
UTSW |
2 |
121,082,481 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1971:Trp53bp1
|
UTSW |
2 |
121,035,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Trp53bp1
|
UTSW |
2 |
121,034,964 (GRCm39) |
missense |
probably benign |
|
|
R2143:Trp53bp1
|
UTSW |
2 |
121,046,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2282:Trp53bp1
|
UTSW |
2 |
121,100,754 (GRCm39) |
nonsense |
probably null |
|
|
R2296:Trp53bp1
|
UTSW |
2 |
121,039,728 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3106:Trp53bp1
|
UTSW |
2 |
121,067,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Trp53bp1
|
UTSW |
2 |
121,030,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Trp53bp1
|
UTSW |
2 |
121,030,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3946:Trp53bp1
|
UTSW |
2 |
121,059,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4001:Trp53bp1
|
UTSW |
2 |
121,035,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Trp53bp1
|
UTSW |
2 |
121,087,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Trp53bp1
|
UTSW |
2 |
121,038,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Trp53bp1
|
UTSW |
2 |
121,038,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4744:Trp53bp1
|
UTSW |
2 |
121,041,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Trp53bp1
|
UTSW |
2 |
121,058,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Trp53bp1
|
UTSW |
2 |
121,038,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Trp53bp1
|
UTSW |
2 |
121,059,087 (GRCm39) |
nonsense |
probably null |
|
|
R4850:Trp53bp1
|
UTSW |
2 |
121,035,594 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4870:Trp53bp1
|
UTSW |
2 |
121,087,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Trp53bp1
|
UTSW |
2 |
121,033,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4924:Trp53bp1
|
UTSW |
2 |
121,051,701 (GRCm39) |
nonsense |
probably null |
|
|
R4962:Trp53bp1
|
UTSW |
2 |
121,101,027 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5019:Trp53bp1
|
UTSW |
2 |
121,100,800 (GRCm39) |
splice site |
probably null |
|
|
R5111:Trp53bp1
|
UTSW |
2 |
121,041,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5149:Trp53bp1
|
UTSW |
2 |
121,046,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5252:Trp53bp1
|
UTSW |
2 |
121,074,464 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5533:Trp53bp1
|
UTSW |
2 |
121,038,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Trp53bp1
|
UTSW |
2 |
121,067,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5773:Trp53bp1
|
UTSW |
2 |
121,074,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5819:Trp53bp1
|
UTSW |
2 |
121,038,873 (GRCm39) |
nonsense |
probably null |
|
|
R5886:Trp53bp1
|
UTSW |
2 |
121,035,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5908:Trp53bp1
|
UTSW |
2 |
121,067,304 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6012:Trp53bp1
|
UTSW |
2 |
121,087,083 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6351:Trp53bp1
|
UTSW |
2 |
121,100,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Trp53bp1
|
UTSW |
2 |
121,101,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6575:Trp53bp1
|
UTSW |
2 |
121,059,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Trp53bp1
|
UTSW |
2 |
121,077,980 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6626:Trp53bp1
|
UTSW |
2 |
121,038,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Trp53bp1
|
UTSW |
2 |
121,101,057 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6765:Trp53bp1
|
UTSW |
2 |
121,039,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6806:Trp53bp1
|
UTSW |
2 |
121,059,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6860:Trp53bp1
|
UTSW |
2 |
121,029,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Trp53bp1
|
UTSW |
2 |
121,038,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7339:Trp53bp1
|
UTSW |
2 |
121,066,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7357:Trp53bp1
|
UTSW |
2 |
121,041,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Trp53bp1
|
UTSW |
2 |
121,066,827 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7577:Trp53bp1
|
UTSW |
2 |
121,067,119 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7643:Trp53bp1
|
UTSW |
2 |
121,078,295 (GRCm39) |
splice site |
probably null |
|
|
R7728:Trp53bp1
|
UTSW |
2 |
121,038,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Trp53bp1
|
UTSW |
2 |
121,035,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7955:Trp53bp1
|
UTSW |
2 |
121,066,225 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8099:Trp53bp1
|
UTSW |
2 |
121,030,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8200:Trp53bp1
|
UTSW |
2 |
121,066,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8282:Trp53bp1
|
UTSW |
2 |
121,029,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9136:Trp53bp1
|
UTSW |
2 |
121,067,092 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9152:Trp53bp1
|
UTSW |
2 |
121,029,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9292:Trp53bp1
|
UTSW |
2 |
121,046,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9340:Trp53bp1
|
UTSW |
2 |
121,100,460 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9475:Trp53bp1
|
UTSW |
2 |
121,039,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9616:Trp53bp1
|
UTSW |
2 |
121,066,657 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9675:Trp53bp1
|
UTSW |
2 |
121,087,089 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9779:Trp53bp1
|
UTSW |
2 |
121,066,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF046:Trp53bp1
|
UTSW |
2 |
121,046,482 (GRCm39) |
frame shift |
probably null |
|
|
Z1088:Trp53bp1
|
UTSW |
2 |
121,084,126 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Trp53bp1
|
UTSW |
2 |
121,074,541 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGGAGACTATAGAAGCCTG -3'
(R):5'- AGGACTCCCTTTGCAGAGTTG -3'
Sequencing Primer
(F):5'- AACCTACCCTTTTTGAAGGTGGGAC -3'
(R):5'- AGTTGTTAGATATGATGGGCCATAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation