Incidental Mutation 'R4879:Trp53bp1'
| ID |
375109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53bp1
|
| Ensembl Gene |
ENSMUSG00000043909 |
| Gene Name |
transformation related protein 53 binding protein 1 |
| Synonyms |
53BP1, p53BP1 |
| MMRRC Submission |
042488-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121023762-121101888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121033084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1691
(K1691E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039541]
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000110658]
[ENSMUST00000186659]
[ENSMUST00000154426]
|
| 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: K1691E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: K1691E
| 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 |
possibly damaging
Transcript: ENSMUST00000110648
AA Change: K1741E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: K1741E
| 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: ENSMUST00000110658
|
| SMART Domains |
Protein: ENSMUSP00000106286
Gene: ENSMUSG00000027263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Spc97_Spc98
|
4 |
572 |
4.1e-115 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138601
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144076
|
| 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 |
|
| 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: ENSMUST00000147540
|
| Meta Mutation Damage Score |
0.0770 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
97% (86/89) |
| 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 |
|---|
| Abca6 |
T |
A |
11: 110,110,526 (GRCm39) |
Y541F |
probably damaging |
Het |
| Acot12 |
T |
A |
13: 91,911,083 (GRCm39) |
V136E |
probably benign |
Het |
| Aftph |
A |
G |
11: 20,648,311 (GRCm39) |
|
probably null |
Het |
| Ambra1 |
C |
T |
2: 91,603,039 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano9 |
T |
C |
7: 140,690,415 (GRCm39) |
D73G |
probably benign |
Het |
| Asap3 |
G |
A |
4: 135,969,975 (GRCm39) |
D778N |
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,245,918 (GRCm39) |
Y591* |
probably null |
Het |
| Blk |
T |
C |
14: 63,613,414 (GRCm39) |
T365A |
probably benign |
Het |
| C4b |
G |
T |
17: 34,962,621 (GRCm39) |
S27Y |
probably damaging |
Het |
| C6 |
G |
T |
15: 4,833,129 (GRCm39) |
|
probably null |
Het |
| Ccdc33 |
T |
A |
9: 57,974,839 (GRCm39) |
I345F |
possibly damaging |
Het |
| Cetn3 |
T |
A |
13: 81,940,268 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,244,389 (GRCm39) |
I387L |
possibly damaging |
Het |
| Cog8 |
A |
G |
8: 107,782,984 (GRCm39) |
C102R |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,456,321 (GRCm39) |
I789T |
probably benign |
Het |
| Cyp2c55 |
CA |
C |
19: 39,030,522 (GRCm39) |
|
probably null |
Het |
| Defa40 |
T |
A |
8: 21,740,380 (GRCm39) |
L62Q |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,022,534 (GRCm39) |
A1624V |
probably damaging |
Het |
| Dnah1 |
T |
G |
14: 31,022,705 (GRCm39) |
E1144A |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,439,201 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,367,517 (GRCm39) |
T1794I |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,953,019 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
T |
13: 103,971,282 (GRCm39) |
M778K |
probably benign |
Het |
| Fbxw10 |
G |
T |
11: 62,738,573 (GRCm39) |
A156S |
probably damaging |
Het |
| Flnc |
T |
A |
6: 29,460,805 (GRCm39) |
F2632Y |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,534,628 (GRCm39) |
K160E |
probably damaging |
Het |
| Glipr1l2 |
A |
G |
10: 111,943,029 (GRCm39) |
K295E |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,370,119 (GRCm39) |
C465* |
probably null |
Het |
| Hoxb4 |
A |
G |
11: 96,211,014 (GRCm39) |
I205V |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Il36a |
A |
G |
2: 24,106,032 (GRCm39) |
N29S |
probably benign |
Het |
| Ilk |
A |
G |
7: 105,391,011 (GRCm39) |
S292G |
probably benign |
Het |
| Itgb5 |
G |
C |
16: 33,696,348 (GRCm39) |
G180R |
probably damaging |
Het |
| Josd1-ps |
T |
C |
7: 27,648,768 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnip4 |
T |
C |
5: 48,567,207 (GRCm39) |
D120G |
possibly damaging |
Het |
| Kin |
A |
G |
2: 10,085,455 (GRCm39) |
D5G |
probably benign |
Het |
| Lrrtm2 |
C |
A |
18: 35,346,372 (GRCm39) |
G310V |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,186 (GRCm39) |
|
probably benign |
Het |
| Mepce |
C |
A |
5: 137,783,544 (GRCm39) |
|
probably benign |
Het |
| Nckipsd |
T |
A |
9: 108,691,114 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
T |
A |
17: 32,366,937 (GRCm39) |
Q866L |
probably benign |
Het |
| Or52b4 |
A |
T |
7: 102,183,962 (GRCm39) |
T3S |
probably benign |
Het |
| Or5l14 |
A |
T |
2: 87,793,040 (GRCm39) |
H65Q |
possibly damaging |
Het |
| Or8k20 |
A |
T |
2: 86,106,107 (GRCm39) |
C241* |
probably null |
Het |
| Orai1 |
T |
C |
5: 123,149,894 (GRCm39) |
|
probably benign |
Het |
| Pate12 |
G |
A |
9: 36,344,089 (GRCm39) |
C24Y |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
| Pcnx4 |
G |
A |
12: 72,613,959 (GRCm39) |
D635N |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,375,322 (GRCm39) |
I567V |
probably benign |
Het |
| Ppfibp2 |
T |
C |
7: 107,328,390 (GRCm39) |
S485P |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,542,087 (GRCm39) |
Y356C |
probably damaging |
Het |
| Sdcbp |
T |
C |
4: 6,381,056 (GRCm39) |
I67T |
possibly damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,583,679 (GRCm39) |
I537T |
probably benign |
Het |
| Slc66a1 |
A |
T |
4: 139,029,095 (GRCm39) |
|
probably null |
Het |
| Smad4 |
A |
G |
18: 73,774,974 (GRCm39) |
C442R |
probably damaging |
Het |
| Smpd5 |
A |
G |
15: 76,179,070 (GRCm39) |
H146R |
possibly damaging |
Het |
| Snai2 |
A |
G |
16: 14,524,605 (GRCm39) |
Y37C |
probably benign |
Het |
| Snapc4 |
C |
T |
2: 26,256,004 (GRCm39) |
S840N |
possibly damaging |
Het |
| Stpg2 |
T |
C |
3: 138,921,134 (GRCm39) |
I113T |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 55,925,125 (GRCm39) |
|
probably null |
Het |
| Tfg |
A |
T |
16: 56,521,520 (GRCm39) |
S39R |
probably damaging |
Het |
| Thsd7b |
T |
A |
1: 130,116,236 (GRCm39) |
S1330T |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,881,321 (GRCm39) |
T322A |
probably benign |
Het |
| Tpra1 |
A |
G |
6: 88,888,691 (GRCm39) |
Y291C |
probably damaging |
Het |
| Trcg1 |
A |
G |
9: 57,154,003 (GRCm39) |
D658G |
probably damaging |
Het |
| Trip4 |
C |
T |
9: 65,782,304 (GRCm39) |
V143I |
probably benign |
Het |
| Ttc8 |
T |
A |
12: 98,908,562 (GRCm39) |
M77K |
possibly damaging |
Het |
| Tubb2a |
A |
T |
13: 34,258,572 (GRCm39) |
M406K |
probably benign |
Het |
| Txnrd1 |
T |
A |
10: 82,717,751 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
C |
A |
5: 87,479,144 (GRCm39) |
R268L |
probably benign |
Het |
| Usp34 |
T |
G |
11: 23,323,410 (GRCm39) |
M982R |
possibly damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,102 (GRCm39) |
K370N |
probably benign |
Het |
| Vopp1 |
A |
T |
6: 57,739,355 (GRCm39) |
|
probably benign |
Het |
| Vps11 |
A |
C |
9: 44,264,597 (GRCm39) |
C660G |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,926,338 (GRCm39) |
H1137R |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,188,322 (GRCm39) |
Y193H |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,009,444 (GRCm39) |
V470D |
probably benign |
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 |
|
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 |
|
R7278:Trp53bp1
|
UTSW |
2 |
121,029,516 (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'- AGAATCAGTTACCACCTGCC -3'
(R):5'- TAGACAAAGCTTACCAGGACATG -3'
Sequencing Primer
(F):5'- CTGGTGCACTACTCTACCTGGATG -3'
(R):5'- CAAGTAGTGATCTGTGTGCATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation