Incidental Mutation 'R1971:Trp53bp1'
| ID |
220799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53bp1
|
| Ensembl Gene |
ENSMUSG00000043909 |
| Gene Name |
transformation related protein 53 binding protein 1 |
| Synonyms |
53BP1, p53BP1 |
| MMRRC Submission |
039984-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1971 (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 121035517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 47
(Y47C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117548
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110647]
[ENSMUST00000110648]
[ENSMUST00000154426]
|
| AlphaFold |
P70399 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110647
AA Change: Y1528C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106277
Gene: ENSMUSG00000043909
AA Change: Y1528C
| 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: Y1578C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106278
Gene: ENSMUSG00000043909
AA Change: Y1578C
| 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 |
probably benign
Transcript: ENSMUST00000147540
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154426
AA Change: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117548
Gene: ENSMUSG00000043909
AA Change: Y47C
| 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 |
noncoding transcript
Transcript: ENSMUST00000147554
|
| Meta Mutation Damage Score |
0.5245 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (115/116) |
| 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: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,686,566 (GRCm39) |
I242N |
probably benign |
Het |
| 2510009E07Rik |
G |
T |
16: 21,472,048 (GRCm39) |
Y217* |
probably null |
Het |
| 4931429L15Rik |
C |
T |
9: 46,220,086 (GRCm39) |
V149M |
probably benign |
Het |
| Abcg8 |
G |
T |
17: 85,002,587 (GRCm39) |
|
probably benign |
Het |
| Acox1 |
A |
G |
11: 116,089,087 (GRCm39) |
F77S |
probably benign |
Het |
| Adgrb3 |
G |
T |
1: 25,586,525 (GRCm39) |
H389Q |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,692,504 (GRCm39) |
N186S |
probably damaging |
Het |
| Apobr |
A |
G |
7: 126,185,397 (GRCm39) |
T303A |
probably benign |
Het |
| Arnt |
C |
T |
3: 95,355,704 (GRCm39) |
S16L |
possibly damaging |
Het |
| Bcl9l |
T |
C |
9: 44,419,996 (GRCm39) |
|
probably null |
Het |
| Bco2 |
T |
C |
9: 50,457,284 (GRCm39) |
D86G |
probably damaging |
Het |
| Bmpr1b |
T |
A |
3: 141,563,333 (GRCm39) |
I204F |
probably damaging |
Het |
| Bpifb5 |
C |
A |
2: 154,072,264 (GRCm39) |
Q324K |
probably benign |
Het |
| Cacna2d2 |
G |
A |
9: 107,389,205 (GRCm39) |
V223I |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,311,228 (GRCm39) |
D105G |
possibly damaging |
Het |
| Ccdc40 |
G |
T |
11: 119,153,901 (GRCm39) |
|
probably null |
Het |
| Ccdc83 |
T |
A |
7: 89,893,362 (GRCm39) |
S132C |
probably damaging |
Het |
| Ckap2l |
A |
G |
2: 129,127,342 (GRCm39) |
S279P |
possibly damaging |
Het |
| Cldn12 |
C |
A |
5: 5,558,137 (GRCm39) |
A97S |
probably benign |
Het |
| Clec2l |
T |
G |
6: 38,640,309 (GRCm39) |
S47A |
probably benign |
Het |
| Csnk1d |
C |
A |
11: 120,863,274 (GRCm39) |
R222M |
possibly damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,287,580 (GRCm39) |
D96E |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,145,078 (GRCm39) |
D1316G |
probably damaging |
Het |
| Ddx4 |
C |
T |
13: 112,736,547 (GRCm39) |
V608I |
probably damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,198,989 (GRCm39) |
E48G |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,995,361 (GRCm39) |
Q996E |
probably benign |
Het |
| Dnah9 |
G |
C |
11: 65,739,197 (GRCm39) |
N4180K |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,371,809 (GRCm39) |
|
probably null |
Het |
| Drd2 |
T |
C |
9: 49,318,359 (GRCm39) |
F434L |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,534,742 (GRCm39) |
T344A |
unknown |
Het |
| Eri3 |
A |
G |
4: 117,421,964 (GRCm39) |
T81A |
probably benign |
Het |
| Fam20a |
T |
C |
11: 109,576,237 (GRCm39) |
Y174C |
probably damaging |
Het |
| Fam234a |
G |
C |
17: 26,435,629 (GRCm39) |
|
probably null |
Het |
| Fam76a |
A |
T |
4: 132,631,294 (GRCm39) |
I217N |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,148,466 (GRCm39) |
S694T |
probably benign |
Het |
| Fcgbpl1 |
C |
A |
7: 27,830,937 (GRCm39) |
A50E |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,258 (GRCm39) |
S420P |
probably benign |
Het |
| Foxp4 |
C |
T |
17: 48,186,796 (GRCm39) |
R378Q |
unknown |
Het |
| Gm136 |
T |
G |
4: 34,755,986 (GRCm39) |
D9A |
probably benign |
Het |
| Gstt2 |
G |
T |
10: 75,668,499 (GRCm39) |
T116N |
probably benign |
Het |
| Hs3st6 |
A |
G |
17: 24,972,267 (GRCm39) |
T70A |
probably benign |
Het |
| Hspa14 |
A |
G |
2: 3,490,804 (GRCm39) |
V461A |
possibly damaging |
Het |
| Itih5 |
A |
T |
2: 10,243,379 (GRCm39) |
D372V |
probably damaging |
Het |
| Kcna2 |
A |
T |
3: 107,012,140 (GRCm39) |
R240S |
probably damaging |
Het |
| Kctd18 |
T |
C |
1: 58,006,779 (GRCm39) |
I24V |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,663,508 (GRCm39) |
|
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,437,946 (GRCm39) |
S119P |
probably damaging |
Het |
| Lig3 |
G |
C |
11: 82,686,544 (GRCm39) |
D642H |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,630,724 (GRCm39) |
L58H |
probably damaging |
Het |
| Map4k5 |
G |
T |
12: 69,873,102 (GRCm39) |
P468Q |
possibly damaging |
Het |
| Med31 |
G |
A |
11: 72,106,244 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
T |
7: 135,315,688 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
G |
A |
2: 14,249,103 (GRCm39) |
|
probably null |
Het |
| Msh3 |
A |
G |
13: 92,359,784 (GRCm39) |
I16T |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,386,328 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
A |
T |
9: 107,790,411 (GRCm39) |
I675F |
probably benign |
Het |
| Myb |
A |
C |
10: 21,016,555 (GRCm39) |
S652A |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,080,004 (GRCm39) |
S1099I |
possibly damaging |
Het |
| Myl6b |
A |
G |
10: 128,330,512 (GRCm39) |
V181A |
probably damaging |
Het |
| Myt1l |
A |
T |
12: 29,877,091 (GRCm39) |
K247N |
unknown |
Het |
| Nanos2 |
G |
T |
7: 18,721,629 (GRCm39) |
V34L |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,460,091 (GRCm39) |
T411A |
probably benign |
Het |
| Nedd9 |
T |
A |
13: 41,492,424 (GRCm39) |
I23F |
probably damaging |
Het |
| Nes |
G |
A |
3: 87,885,634 (GRCm39) |
V1254I |
possibly damaging |
Het |
| Nol6 |
A |
G |
4: 41,119,542 (GRCm39) |
F588S |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,658,529 (GRCm39) |
A1605V |
probably damaging |
Het |
| Ofd1 |
T |
C |
X: 165,210,210 (GRCm39) |
Y205C |
probably benign |
Het |
| Olr1 |
T |
C |
6: 129,470,498 (GRCm39) |
E223G |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,616 (GRCm39) |
M284K |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,276,877 (GRCm39) |
N272I |
probably damaging |
Het |
| Or4c118 |
A |
T |
2: 88,975,078 (GRCm39) |
C96* |
probably null |
Het |
| Or51k2 |
A |
T |
7: 103,596,150 (GRCm39) |
I126F |
probably damaging |
Het |
| Or51l4 |
C |
T |
7: 103,404,527 (GRCm39) |
W88* |
probably null |
Het |
| Pate6 |
T |
A |
9: 35,700,309 (GRCm39) |
H92L |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,487 (GRCm39) |
T3987A |
unknown |
Het |
| Pik3cg |
A |
T |
12: 32,242,152 (GRCm39) |
V986D |
probably damaging |
Het |
| Pitpnm1 |
T |
A |
19: 4,162,450 (GRCm39) |
D1093E |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,793,651 (GRCm39) |
D571G |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,126 (GRCm39) |
E875G |
probably damaging |
Het |
| Rnf145 |
T |
A |
11: 44,439,642 (GRCm39) |
I146N |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,108,557 (GRCm39) |
R1587H |
probably benign |
Het |
| Safb |
A |
G |
17: 56,912,821 (GRCm39) |
H883R |
probably benign |
Het |
| Sdhb |
A |
G |
4: 140,700,260 (GRCm39) |
D120G |
possibly damaging |
Het |
| Serpine3 |
A |
G |
14: 62,902,533 (GRCm39) |
N48S |
probably damaging |
Het |
| Sgms1 |
T |
A |
19: 32,137,357 (GRCm39) |
I70L |
probably benign |
Het |
| Slc1a7 |
G |
T |
4: 107,825,782 (GRCm39) |
D14Y |
probably benign |
Het |
| Smtnl2 |
C |
T |
11: 72,302,183 (GRCm39) |
A93T |
probably benign |
Het |
| Srpra |
T |
C |
9: 35,124,834 (GRCm39) |
|
probably null |
Het |
| Taf6l |
A |
G |
19: 8,752,866 (GRCm39) |
|
probably null |
Het |
| Tbc1d10b |
A |
T |
7: 126,807,036 (GRCm39) |
V167E |
probably benign |
Het |
| Tbc1d9 |
G |
A |
8: 83,976,139 (GRCm39) |
R566H |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,689,348 (GRCm39) |
Y2080H |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,402,431 (GRCm39) |
N506S |
probably damaging |
Het |
| Thada |
G |
T |
17: 84,617,470 (GRCm39) |
P1349T |
probably damaging |
Het |
| Tjp1 |
G |
T |
7: 64,973,826 (GRCm39) |
T476K |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,691 (GRCm39) |
T226S |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,843,680 (GRCm39) |
Q1394* |
probably null |
Het |
| Tmem161a |
C |
T |
8: 70,629,559 (GRCm39) |
R58W |
probably damaging |
Het |
| Tmem219 |
T |
C |
7: 126,496,422 (GRCm39) |
S13G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,731,922 (GRCm39) |
|
probably benign |
Het |
| Ush1g |
A |
G |
11: 115,209,280 (GRCm39) |
S305P |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,479,127 (GRCm39) |
Y948* |
probably null |
Het |
| Vav1 |
A |
T |
17: 57,634,697 (GRCm39) |
Y805F |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,038 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,034,121 (GRCm39) |
Y467F |
probably damaging |
Het |
| Vps35l |
A |
C |
7: 118,374,557 (GRCm39) |
R352S |
probably damaging |
Het |
| Vps54 |
C |
A |
11: 21,242,051 (GRCm39) |
L389I |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,162,694 (GRCm39) |
|
probably benign |
Het |
| Wdr19 |
G |
T |
5: 65,398,503 (GRCm39) |
|
probably benign |
Het |
| Wnt2b |
A |
T |
3: 104,861,933 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,342,039 (GRCm39) |
R1427G |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,087,560 (GRCm39) |
S1115P |
probably damaging |
Het |
| Zfp946 |
T |
A |
17: 22,674,406 (GRCm39) |
C387S |
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 |
|
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 |
|
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'- GAACCATTCCTCCCTTTAAGCG -3'
(R):5'- GTGTTGTAAACCACTTGGCAGG -3'
Sequencing Primer
(F):5'- CGAAGCCTGGATCCACAG -3'
(R):5'- CCAAGTTCAGCCCATGGTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation