Incidental Mutation 'R6351:Trp53bp1'
| ID |
514215 |
| 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 # |
R6351 (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 C
at 121100426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 109
(S109R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000131245]
|
| AlphaFold |
P70399 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110647
AA Change: S109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: S109R
| 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: S109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: S109R
| 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: ENSMUST00000124060
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131245
AA Change: S109R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909
AA Change: S109R
| 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
|
991 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140285
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
99% (95/96) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
C |
A |
9: 119,170,630 (GRCm39) |
S17* |
probably null |
Het |
| Adamts16 |
T |
A |
13: 70,984,322 (GRCm39) |
S114C |
probably damaging |
Het |
| Agpat5 |
T |
C |
8: 18,896,724 (GRCm39) |
V50A |
probably benign |
Het |
| Agrn |
T |
C |
4: 156,263,891 (GRCm39) |
N124S |
probably benign |
Het |
| Ak8 |
T |
C |
2: 28,625,638 (GRCm39) |
I227T |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,188,808 (GRCm39) |
E2074G |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,445,265 (GRCm39) |
S702R |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,596,769 (GRCm39) |
I1233T |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,533,698 (GRCm39) |
F318I |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 36,962,377 (GRCm39) |
A493T |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,380 (GRCm39) |
T397A |
probably benign |
Het |
| Bpifb4 |
C |
T |
2: 153,799,054 (GRCm39) |
T528I |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,323 (GRCm39) |
E590G |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,874,589 (GRCm39) |
H887R |
probably benign |
Het |
| Clcn6 |
C |
T |
4: 148,101,957 (GRCm39) |
V376I |
probably benign |
Het |
| Cntln |
T |
G |
4: 85,033,591 (GRCm39) |
C1305W |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,799,928 (GRCm39) |
D1564G |
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,338,646 (GRCm39) |
S582T |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,248 (GRCm39) |
A97T |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,219,826 (GRCm39) |
F781L |
probably damaging |
Het |
| Dsc3 |
G |
T |
18: 20,099,348 (GRCm39) |
H723N |
probably benign |
Het |
| Ear10 |
A |
T |
14: 44,160,512 (GRCm39) |
V105D |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,077,231 (GRCm39) |
V659A |
possibly damaging |
Het |
| Eogt |
A |
T |
6: 97,097,155 (GRCm39) |
F316I |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,897,188 (GRCm39) |
N310D |
possibly damaging |
Het |
| Exoc3l2 |
G |
A |
7: 19,203,633 (GRCm39) |
R75Q |
possibly damaging |
Het |
| Fam186a |
A |
C |
15: 99,839,623 (GRCm39) |
L2207R |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,677,024 (GRCm39) |
Y178H |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,486,532 (GRCm39) |
Q3362L |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,849,694 (GRCm39) |
S3903T |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,823,028 (GRCm39) |
V6254I |
possibly damaging |
Het |
| Gabra5 |
T |
C |
7: 57,063,528 (GRCm39) |
T299A |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,475,464 (GRCm39) |
T295A |
probably benign |
Het |
| Glcci1 |
C |
T |
6: 8,573,203 (GRCm39) |
Q44* |
probably null |
Het |
| Gpc5 |
A |
T |
14: 115,636,612 (GRCm39) |
T432S |
probably benign |
Het |
| Grhl1 |
G |
A |
12: 24,634,857 (GRCm39) |
E228K |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,708 (GRCm39) |
|
probably null |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,230,456 (GRCm39) |
I128V |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,302,850 (GRCm39) |
N130I |
probably damaging |
Het |
| Krba1 |
T |
C |
6: 48,391,062 (GRCm39) |
V717A |
probably benign |
Het |
| Lrp12 |
T |
A |
15: 39,741,584 (GRCm39) |
D377V |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,920,210 (GRCm39) |
D135E |
possibly damaging |
Het |
| Map10 |
T |
A |
8: 126,397,984 (GRCm39) |
L459Q |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,980,873 (GRCm39) |
D238G |
possibly damaging |
Het |
| Ms4a19 |
C |
T |
19: 11,119,765 (GRCm39) |
G14D |
probably damaging |
Het |
| Mylk |
G |
T |
16: 34,742,341 (GRCm39) |
R951L |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,549,235 (GRCm39) |
D1272V |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,550,165 (GRCm39) |
K1009* |
probably null |
Het |
| Ncor1 |
T |
C |
11: 62,264,124 (GRCm39) |
D786G |
probably benign |
Het |
| Oas2 |
G |
A |
5: 120,886,603 (GRCm39) |
R188C |
probably benign |
Het |
| Odf2l |
A |
G |
3: 144,841,479 (GRCm39) |
I300V |
probably benign |
Het |
| Or1j10 |
T |
A |
2: 36,267,208 (GRCm39) |
V140D |
possibly damaging |
Het |
| Or51b17 |
A |
T |
7: 103,542,342 (GRCm39) |
L200* |
probably null |
Het |
| Or51v8 |
A |
G |
7: 103,320,163 (GRCm39) |
I25T |
possibly damaging |
Het |
| Or5p60 |
A |
G |
7: 107,723,637 (GRCm39) |
S278P |
probably damaging |
Het |
| Or9i1 |
A |
G |
19: 13,839,186 (GRCm39) |
T10A |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,865 (GRCm39) |
D574E |
probably benign |
Het |
| Phf20 |
C |
T |
2: 156,136,130 (GRCm39) |
R650C |
possibly damaging |
Het |
| Pias4 |
G |
A |
10: 80,993,098 (GRCm39) |
T248I |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,282,175 (GRCm39) |
T2889A |
probably benign |
Het |
| Plcxd1 |
C |
A |
5: 110,250,033 (GRCm39) |
|
probably null |
Het |
| Plekha7 |
A |
G |
7: 115,776,133 (GRCm39) |
F194L |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,041,973 (GRCm39) |
N1642S |
possibly damaging |
Het |
| Pnpla7 |
A |
T |
2: 24,901,576 (GRCm39) |
D534V |
probably damaging |
Het |
| Ppp2r5c |
A |
T |
12: 110,521,313 (GRCm39) |
S279C |
probably damaging |
Het |
| Ptprq |
T |
A |
10: 107,544,529 (GRCm39) |
T334S |
probably damaging |
Het |
| Rab39 |
T |
C |
9: 53,597,821 (GRCm39) |
D148G |
probably benign |
Het |
| Reep3 |
A |
T |
10: 66,870,432 (GRCm39) |
F121L |
probably benign |
Het |
| Reln |
G |
T |
5: 22,106,661 (GRCm39) |
C3236* |
probably null |
Het |
| Rrp8 |
C |
T |
7: 105,384,016 (GRCm39) |
C162Y |
probably damaging |
Het |
| Scrib |
C |
A |
15: 75,936,835 (GRCm39) |
Q399H |
possibly damaging |
Het |
| Sertad1 |
T |
A |
7: 27,189,224 (GRCm39) |
Y182N |
possibly damaging |
Het |
| Sfrp5 |
A |
G |
19: 42,190,263 (GRCm39) |
V63A |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,069,317 (GRCm39) |
D703G |
probably benign |
Het |
| Slc46a1 |
T |
C |
11: 78,357,985 (GRCm39) |
M346T |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,005,209 (GRCm39) |
L886S |
probably damaging |
Het |
| Teddm1b |
A |
T |
1: 153,750,505 (GRCm39) |
I105F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,828 (GRCm39) |
I46N |
possibly damaging |
Het |
| Tmod4 |
A |
G |
3: 95,035,164 (GRCm39) |
N223S |
probably damaging |
Het |
| Tnfrsf10b |
G |
C |
14: 70,010,850 (GRCm39) |
C85S |
probably damaging |
Het |
| Tox |
T |
C |
4: 6,697,439 (GRCm39) |
T455A |
probably benign |
Het |
| Tox |
T |
C |
4: 6,741,536 (GRCm39) |
Q148R |
probably benign |
Het |
| Tshz2 |
A |
T |
2: 169,726,888 (GRCm39) |
T26S |
probably benign |
Het |
| Tubb4a |
T |
A |
17: 57,388,016 (GRCm39) |
N337Y |
probably damaging |
Het |
| Tubb6 |
T |
A |
18: 67,534,458 (GRCm39) |
V119E |
probably damaging |
Het |
| Unk |
C |
T |
11: 115,945,772 (GRCm39) |
T481I |
probably benign |
Het |
| Vmn2r112 |
C |
T |
17: 22,820,259 (GRCm39) |
T44I |
probably benign |
Het |
| Vstm5 |
G |
A |
9: 15,168,829 (GRCm39) |
G131D |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,650,709 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfp369 |
T |
A |
13: 65,444,044 (GRCm39) |
S396T |
possibly damaging |
Het |
| Zfp932 |
T |
A |
5: 110,157,209 (GRCm39) |
C302* |
probably null |
Het |
| Zfp972 |
A |
T |
2: 177,548,728 (GRCm39) |
|
probably null |
Het |
| Zfyve21 |
C |
A |
12: 111,794,028 (GRCm39) |
A212E |
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 |
|
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 |
|
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'- AAGAGATCCCAGCTCTCAGTC -3'
(R):5'- TTGAAGGCTTGGCTCTCTGC -3'
Sequencing Primer
(F):5'- GAGATCCCAGCTCTCAGTCCTAAAAC -3'
(R):5'- GCAGAACGATTTAAACATGCAGTTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation