Incidental Mutation 'R9616:Trp53bp1'
| ID |
724560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53bp1
|
| Ensembl Gene |
ENSMUSG00000043909 |
| Gene Name |
transformation related protein 53 binding protein 1 |
| Synonyms |
53BP1, p53BP1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9616 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121023762-121101888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121066657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 690
(S690A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000129752]
[ENSMUST00000131245]
|
| AlphaFold |
P70399 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110647
AA Change: S690A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: S690A
| 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 benign
Transcript: ENSMUST00000110648
AA Change: S690A
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: S690A
| 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: ENSMUST00000129752
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131245
AA Change: S690A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114457
Gene: ENSMUSG00000043909
AA Change: S690A
| 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 |
probably benign
Transcript: ENSMUST00000142400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147540
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040M04Rik |
T |
A |
1: 151,080,480 (GRCm39) |
D189E |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,240,501 (GRCm39) |
H788L |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,862,779 (GRCm39) |
I154V |
probably benign |
Het |
| Acsm4 |
A |
G |
7: 119,293,872 (GRCm39) |
N81S |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,659,674 (GRCm39) |
H873Y |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,268,020 (GRCm39) |
T200I |
possibly damaging |
Het |
| Arhgap33 |
A |
G |
7: 30,229,367 (GRCm39) |
V336A |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,416,683 (GRCm39) |
E484K |
probably damaging |
Het |
| Capn13 |
T |
A |
17: 73,672,964 (GRCm39) |
D113V |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
G |
A |
7: 16,892,078 (GRCm39) |
E274K |
|
Het |
| Cfh |
A |
T |
1: 140,030,254 (GRCm39) |
I891K |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,670,332 (GRCm39) |
S1041P |
probably damaging |
Het |
| Cldn18 |
T |
C |
9: 99,580,915 (GRCm39) |
D111G |
probably benign |
Het |
| Cnp |
G |
A |
11: 100,467,261 (GRCm39) |
R68Q |
probably benign |
Het |
| Cntn4 |
T |
A |
6: 106,674,525 (GRCm39) |
C1008* |
probably null |
Het |
| Cntnap5a |
T |
C |
1: 116,029,323 (GRCm39) |
I259T |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,319,529 (GRCm39) |
I2897T |
probably benign |
Het |
| Cyp2c39 |
T |
A |
19: 39,501,648 (GRCm39) |
L67Q |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,387,854 (GRCm39) |
C100Y |
probably damaging |
Het |
| Ddc |
C |
T |
11: 11,772,288 (GRCm39) |
W349* |
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,440,563 (GRCm39) |
E1198G |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,026,400 (GRCm39) |
D826G |
probably null |
Het |
| Dpp4 |
T |
C |
2: 62,217,429 (GRCm39) |
Y56C |
probably damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,295 (GRCm39) |
D350G |
possibly damaging |
Het |
| Fat1 |
C |
A |
8: 45,406,075 (GRCm39) |
P942Q |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,916,159 (GRCm39) |
F418L |
probably benign |
Het |
| Fbxo11 |
T |
A |
17: 88,316,098 (GRCm39) |
H368L |
|
Het |
| Fhl2 |
G |
T |
1: 43,167,546 (GRCm39) |
H182Q |
probably damaging |
Het |
| Gabpa |
T |
A |
16: 84,649,461 (GRCm39) |
C223S |
probably damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,356,326 (GRCm39) |
I803T |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,790,038 (GRCm39) |
N3K |
probably damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,684,473 (GRCm39) |
S366R |
probably benign |
Het |
| Il17b |
A |
G |
18: 61,825,363 (GRCm39) |
Q133R |
probably benign |
Het |
| Inha |
T |
A |
1: 75,486,211 (GRCm39) |
S169T |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,650,055 (GRCm39) |
R243H |
probably benign |
Het |
| Kcnu1 |
G |
GA |
8: 26,403,675 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
A |
G |
13: 47,234,030 (GRCm39) |
E788G |
probably damaging |
Het |
| Kdm2a |
A |
T |
19: 4,370,308 (GRCm39) |
I1059N |
probably damaging |
Het |
| Klk1b9 |
G |
T |
7: 43,628,795 (GRCm39) |
G100C |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,994 (GRCm39) |
V565A |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,907,425 (GRCm39) |
N1650Y |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,719 (GRCm39) |
V270A |
probably benign |
Het |
| Lrrc15 |
A |
G |
16: 30,092,517 (GRCm39) |
L274P |
probably damaging |
Het |
| Mertk |
C |
T |
2: 128,643,255 (GRCm39) |
L885F |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,294,361 (GRCm39) |
L31* |
probably null |
Het |
| Ms4a10 |
T |
C |
19: 10,944,440 (GRCm39) |
T115A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,923,263 (GRCm39) |
I1330T |
possibly damaging |
Het |
| Ncam2 |
T |
C |
16: 81,240,142 (GRCm39) |
I201T |
probably damaging |
Het |
| Nefh |
T |
A |
11: 4,889,443 (GRCm39) |
K1059* |
probably null |
Het |
| Nek1 |
T |
C |
8: 61,473,107 (GRCm39) |
Y168H |
probably damaging |
Het |
| Nek11 |
T |
A |
9: 105,082,011 (GRCm39) |
T531S |
probably damaging |
Het |
| Nelfa |
G |
A |
5: 34,059,127 (GRCm39) |
P243S |
possibly damaging |
Het |
| Niban1 |
T |
C |
1: 151,512,193 (GRCm39) |
Y32H |
probably damaging |
Het |
| Notum |
G |
T |
11: 120,550,974 (GRCm39) |
T64K |
|
Het |
| Or13c7d |
T |
A |
4: 43,770,193 (GRCm39) |
K273* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,986,520 (GRCm39) |
Y134* |
probably null |
Het |
| Or9i16 |
A |
G |
19: 13,864,861 (GRCm39) |
S238P |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,539,708 (GRCm39) |
I1035T |
possibly damaging |
Het |
| Otud3 |
A |
G |
4: 138,624,925 (GRCm39) |
Y259H |
probably benign |
Het |
| Per1 |
G |
T |
11: 68,993,554 (GRCm39) |
C368F |
probably damaging |
Het |
| Pitrm1 |
G |
T |
13: 6,605,602 (GRCm39) |
R183L |
probably damaging |
Het |
| Prl3a1 |
C |
T |
13: 27,459,118 (GRCm39) |
A119V |
|
Het |
| Pycard |
C |
T |
7: 127,592,776 (GRCm39) |
G17E |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,740,430 (GRCm39) |
D249G |
possibly damaging |
Het |
| Sdhaf2 |
T |
C |
19: 10,494,689 (GRCm39) |
Y33C |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,691,061 (GRCm39) |
V1838A |
probably benign |
Het |
| Sgo2b |
C |
T |
8: 64,380,274 (GRCm39) |
V853I |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,282,403 (GRCm39) |
T24A |
probably benign |
Het |
| Slc8a1 |
T |
C |
17: 81,955,407 (GRCm39) |
T544A |
probably benign |
Het |
| Sntg2 |
T |
C |
12: 30,326,732 (GRCm39) |
N143S |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,254,989 (GRCm39) |
E920G |
probably damaging |
Het |
| Srgap2 |
T |
A |
1: 131,252,828 (GRCm39) |
H132L |
|
Het |
| Srgap3 |
A |
T |
6: 112,748,524 (GRCm39) |
V376D |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,036,314 (GRCm39) |
K434E |
probably damaging |
Het |
| Tab2 |
A |
T |
10: 7,795,005 (GRCm39) |
N492K |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,037,246 (GRCm39) |
Q666R |
possibly damaging |
Het |
| Tekt4 |
T |
C |
17: 25,692,782 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
G |
A |
3: 154,667,724 (GRCm39) |
Q230* |
probably null |
Het |
| Trpa1 |
C |
A |
1: 14,989,077 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,858,132 (GRCm39) |
V324G |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,966,179 (GRCm39) |
E674G |
possibly damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,299 (GRCm39) |
R839G |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,724 (GRCm39) |
L667P |
probably damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,305 (GRCm39) |
F657L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,824,701 (GRCm39) |
V2923A |
|
Het |
| Xylb |
T |
A |
9: 119,201,022 (GRCm39) |
L220Q |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,316,473 (GRCm39) |
T95M |
probably benign |
Het |
| Zfp263 |
C |
T |
16: 3,567,482 (GRCm39) |
P599L |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,789,639 (GRCm39) |
E1026G |
probably benign |
Het |
| Zfp78 |
A |
G |
7: 6,382,078 (GRCm39) |
N376S |
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 |
|
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 |
|
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'- TGGAGTCCTCAGAAGTAGCTTC -3'
(R):5'- GATTCTGGGAGTCAGGCAGTTC -3'
Sequencing Primer
(F):5'- GAAGTAGCTTCTTCCCAGGTGTC -3'
(R):5'- CACTTTCCAGTGTCTTAGATCAGGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation