Incidental Mutation 'R4754:Trp53bp1'
| ID |
357775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53bp1
|
| Ensembl Gene |
ENSMUSG00000043909 |
| Gene Name |
transformation related protein 53 binding protein 1 |
| Synonyms |
53BP1, p53BP1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4754 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121023762-121101888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121038360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1493
(S1493P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000154426]
|
| AlphaFold |
P70399 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110647
AA Change: S1443P
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: S1443P
| 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: S1493P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: S1493P
| 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 |
noncoding transcript
Transcript: ENSMUST00000124411
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135890
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140582
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147554
|
| 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 |
|
| Meta Mutation Damage Score |
0.7052 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (107/109) |
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,856,837 (GRCm39) |
Y63C |
probably damaging |
Het |
| Abcb4 |
C |
A |
5: 8,960,717 (GRCm39) |
F266L |
probably damaging |
Het |
| Adam8 |
A |
T |
7: 139,564,693 (GRCm39) |
I681N |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,402,615 (GRCm39) |
|
probably null |
Het |
| Ang2 |
A |
G |
14: 51,432,974 (GRCm39) |
V136A |
probably damaging |
Het |
| Ankar |
C |
T |
1: 72,737,853 (GRCm39) |
G110R |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,540,468 (GRCm39) |
L130P |
probably damaging |
Het |
| Apc2 |
T |
G |
10: 80,150,192 (GRCm39) |
W1749G |
probably benign |
Het |
| Asb2 |
T |
C |
12: 103,290,096 (GRCm39) |
N565S |
possibly damaging |
Het |
| B3gnt7 |
C |
A |
1: 86,233,279 (GRCm39) |
T58K |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 37,076,615 (GRCm39) |
Q3663* |
probably null |
Het |
| Brpf1 |
T |
A |
6: 113,297,408 (GRCm39) |
N876K |
possibly damaging |
Het |
| Ccdc157 |
T |
C |
11: 4,098,994 (GRCm39) |
I69V |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,912,410 (GRCm39) |
I555F |
probably damaging |
Het |
| Cfap73 |
T |
C |
5: 120,767,729 (GRCm39) |
D274G |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,462,203 (GRCm39) |
I1310N |
probably damaging |
Het |
| Ckap2 |
T |
A |
8: 22,658,911 (GRCm39) |
I611F |
possibly damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,443,200 (GRCm39) |
I964V |
possibly damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,625,287 (GRCm39) |
|
probably null |
Het |
| Dhrs2 |
A |
T |
14: 55,476,205 (GRCm39) |
I142F |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,421,101 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,251,390 (GRCm39) |
S1822P |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,181,112 (GRCm39) |
K581E |
probably damaging |
Het |
| Edem1 |
C |
T |
6: 108,818,658 (GRCm39) |
T222M |
probably damaging |
Het |
| Eif2ak1 |
A |
G |
5: 143,838,621 (GRCm39) |
M592V |
probably damaging |
Het |
| Endou |
T |
G |
15: 97,624,420 (GRCm39) |
D49A |
probably damaging |
Het |
| Ensa |
A |
G |
3: 95,529,865 (GRCm39) |
|
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,544,375 (GRCm39) |
R708L |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,643,224 (GRCm39) |
C668S |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,067,835 (GRCm39) |
C798* |
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,800 (GRCm39) |
D798G |
probably benign |
Het |
| Fshb |
A |
C |
2: 106,887,627 (GRCm39) |
*131E |
probably null |
Het |
| G3bp2 |
C |
T |
5: 92,202,768 (GRCm39) |
V441M |
possibly damaging |
Het |
| Galnt6 |
A |
T |
15: 100,597,105 (GRCm39) |
F354I |
probably damaging |
Het |
| Gm1123 |
C |
A |
9: 98,905,293 (GRCm39) |
|
probably null |
Het |
| Gm1123 |
A |
T |
9: 98,905,294 (GRCm39) |
|
probably null |
Het |
| Gm15130 |
T |
C |
2: 110,973,207 (GRCm39) |
N115S |
unknown |
Het |
| Gm7104 |
A |
G |
12: 88,252,765 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9762 |
A |
T |
3: 78,873,728 (GRCm39) |
|
noncoding transcript |
Het |
| Grip2 |
T |
C |
6: 91,756,173 (GRCm39) |
T505A |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,756,163 (GRCm39) |
V508A |
probably damaging |
Het |
| Haus4 |
A |
G |
14: 54,787,349 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
A |
9: 66,408,488 (GRCm39) |
D4571E |
probably benign |
Het |
| Hnrnpk |
T |
A |
13: 58,546,950 (GRCm39) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,067,321 (GRCm39) |
Y23C |
probably damaging |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,881 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnma1 |
T |
C |
14: 23,413,904 (GRCm39) |
D833G |
probably damaging |
Het |
| Kmt2e |
A |
T |
5: 23,687,439 (GRCm39) |
I430F |
possibly damaging |
Het |
| Lama2 |
C |
A |
10: 26,994,527 (GRCm39) |
R1794L |
possibly damaging |
Het |
| Mcpt1 |
T |
A |
14: 56,256,137 (GRCm39) |
F59I |
probably damaging |
Het |
| Mib2 |
G |
T |
4: 155,739,822 (GRCm39) |
T783K |
possibly damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,349,788 (GRCm38) |
|
noncoding transcript |
Het |
| Nudt16l2 |
A |
T |
9: 105,021,592 (GRCm39) |
F151L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,926,869 (GRCm39) |
I6352V |
possibly damaging |
Het |
| Or2j6 |
C |
T |
7: 139,980,072 (GRCm39) |
A296T |
probably damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,391 (GRCm39) |
H226Q |
probably benign |
Het |
| Or4k1 |
T |
A |
14: 50,377,490 (GRCm39) |
N202I |
possibly damaging |
Het |
| Or4k1 |
T |
G |
14: 50,377,491 (GRCm39) |
N202H |
probably benign |
Het |
| Or52a5 |
T |
C |
7: 103,426,875 (GRCm39) |
I226V |
probably benign |
Het |
| Or5b125-ps1 |
T |
A |
19: 13,056,225 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdh10 |
G |
A |
3: 45,335,072 (GRCm39) |
R462H |
probably damaging |
Het |
| Pcdhga12 |
C |
A |
18: 37,899,604 (GRCm39) |
N145K |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,435,601 (GRCm39) |
L613Q |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,016 (GRCm39) |
D282G |
probably damaging |
Het |
| Plod2 |
T |
G |
9: 92,488,584 (GRCm39) |
Y624* |
probably null |
Het |
| Prkd3 |
C |
A |
17: 79,264,043 (GRCm39) |
V684F |
probably damaging |
Het |
| Ptpn1 |
T |
A |
2: 167,816,080 (GRCm39) |
V198D |
probably damaging |
Het |
| Ptpn12 |
G |
T |
5: 21,203,587 (GRCm39) |
P397Q |
probably benign |
Het |
| Rad1 |
C |
A |
15: 10,493,212 (GRCm39) |
|
probably benign |
Het |
| Rasl11a |
A |
G |
5: 146,783,825 (GRCm39) |
D90G |
probably benign |
Het |
| Rnf181 |
A |
G |
6: 72,337,543 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,587,984 (GRCm39) |
I2652M |
possibly damaging |
Het |
| Siglecg |
C |
T |
7: 43,061,295 (GRCm39) |
|
probably benign |
Het |
| Slc22a3 |
T |
C |
17: 12,726,082 (GRCm39) |
S44G |
probably benign |
Het |
| Slc38a1 |
A |
T |
15: 96,474,663 (GRCm39) |
F463I |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,755,954 (GRCm39) |
|
probably benign |
Het |
| Syk |
T |
C |
13: 52,766,295 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
T |
14: 27,183,052 (GRCm39) |
I504L |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,107,193 (GRCm39) |
I454M |
probably benign |
Het |
| Tmed6 |
C |
A |
8: 107,790,362 (GRCm39) |
D146Y |
probably damaging |
Het |
| Tmem132e |
A |
T |
11: 82,335,677 (GRCm39) |
K828* |
probably null |
Het |
| Tmprss15 |
A |
T |
16: 78,851,012 (GRCm39) |
S294T |
probably damaging |
Het |
| Tshb |
A |
T |
3: 102,685,491 (GRCm39) |
I46N |
probably damaging |
Het |
| Tspan11 |
T |
C |
6: 127,915,183 (GRCm39) |
V99A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,905 (GRCm39) |
T24176A |
probably benign |
Het |
| Vmn1r8 |
T |
C |
6: 57,012,952 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r104 |
A |
T |
17: 20,261,030 (GRCm39) |
Y464* |
probably null |
Het |
| Vmn2r110 |
T |
C |
17: 20,816,458 (GRCm39) |
T22A |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,715 (GRCm39) |
I671K |
probably damaging |
Het |
| Zbtb21 |
T |
C |
16: 97,752,466 (GRCm39) |
N606D |
probably damaging |
Het |
| Zfy2 |
A |
T |
Y: 2,121,477 (GRCm39) |
S139T |
probably benign |
Het |
| Zkscan17 |
G |
A |
11: 59,393,851 (GRCm39) |
R156* |
probably null |
Het |
| Zp2 |
A |
G |
7: 119,737,541 (GRCm39) |
V248A |
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 |
|
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 |
|
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'- GTCCATCTGTAGGGATCTGC -3'
(R):5'- CAAGTCCTTCACCCGCATTATG -3'
Sequencing Primer
(F):5'- AGGGATCTGCTTGTTTCATTACC -3'
(R):5'- GCATTATGCCTCGTGTGCCAG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation