Incidental Mutation 'R1500:Ubr2'
ID |
169226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubr2
|
Ensembl Gene |
ENSMUSG00000023977 |
Gene Name |
ubiquitin protein ligase E3 component n-recognin 2 |
Synonyms |
ENSMUSG00000043296, E130209G04Rik, 9930021A08Rik |
MMRRC Submission |
039551-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R1500 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
47239221-47321482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47297615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 253
(T253A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113335]
[ENSMUST00000113337]
[ENSMUST00000225599]
|
AlphaFold |
Q6WKZ8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113335
AA Change: T253A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108961 Gene: ENSMUSG00000023977 AA Change: T253A
Domain | Start | End | E-Value | Type |
ZnF_UBR1
|
97 |
167 |
3.14e-32 |
SMART |
Pfam:ClpS
|
221 |
302 |
2.4e-23 |
PFAM |
low complexity region
|
635 |
646 |
N/A |
INTRINSIC |
low complexity region
|
749 |
760 |
N/A |
INTRINSIC |
low complexity region
|
872 |
886 |
N/A |
INTRINSIC |
coiled coil region
|
1019 |
1046 |
N/A |
INTRINSIC |
RING
|
1108 |
1213 |
7.66e-1 |
SMART |
low complexity region
|
1221 |
1235 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113337
AA Change: T253A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108963 Gene: ENSMUSG00000023977 AA Change: T253A
Domain | Start | End | E-Value | Type |
ZnF_UBR1
|
97 |
167 |
3.14e-32 |
SMART |
Pfam:ClpS
|
222 |
301 |
6.2e-26 |
PFAM |
low complexity region
|
635 |
646 |
N/A |
INTRINSIC |
low complexity region
|
749 |
760 |
N/A |
INTRINSIC |
low complexity region
|
872 |
886 |
N/A |
INTRINSIC |
coiled coil region
|
1019 |
1046 |
N/A |
INTRINSIC |
RING
|
1108 |
1213 |
7.66e-1 |
SMART |
low complexity region
|
1221 |
1235 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224759
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225599
|
Meta Mutation Damage Score |
0.0739 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.1%
|
Validation Efficiency |
95% (81/85) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] PHENOTYPE: On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
A |
G |
17: 31,330,253 (GRCm39) |
D518G |
probably benign |
Het |
Acaca |
T |
A |
11: 84,184,810 (GRCm39) |
D96E |
probably benign |
Het |
Actbl2 |
G |
A |
13: 111,391,854 (GRCm39) |
R63Q |
probably damaging |
Het |
Adamts6 |
T |
A |
13: 104,449,389 (GRCm39) |
H266Q |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,263,205 (GRCm39) |
V75A |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,726,631 (GRCm39) |
S888P |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,325,050 (GRCm39) |
F534S |
probably damaging |
Het |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Bcam |
T |
A |
7: 19,492,889 (GRCm39) |
D484V |
possibly damaging |
Het |
Bltp2 |
C |
A |
11: 78,174,958 (GRCm39) |
Q1698K |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,713 (GRCm39) |
Y1240H |
probably benign |
Het |
Cfh |
T |
C |
1: 140,028,614 (GRCm39) |
Y500C |
probably damaging |
Het |
Chd1l |
G |
A |
3: 97,490,121 (GRCm39) |
A478V |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,038,715 (GRCm39) |
D122G |
probably benign |
Het |
Dnah11 |
A |
T |
12: 117,976,564 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,991,879 (GRCm39) |
K1230E |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
E330020D12Rik |
A |
T |
1: 153,284,125 (GRCm39) |
|
noncoding transcript |
Het |
Ece2 |
T |
C |
16: 20,462,992 (GRCm39) |
L639P |
probably damaging |
Het |
Epha3 |
A |
T |
16: 63,416,025 (GRCm39) |
V658E |
probably benign |
Het |
Erbb2 |
C |
T |
11: 98,319,804 (GRCm39) |
T632I |
probably damaging |
Het |
Erc2 |
A |
G |
14: 27,993,617 (GRCm39) |
T883A |
probably damaging |
Het |
Extl2 |
T |
C |
3: 115,820,789 (GRCm39) |
V198A |
probably benign |
Het |
Fktn |
G |
T |
4: 53,735,065 (GRCm39) |
M234I |
probably benign |
Het |
Ggt7 |
A |
G |
2: 155,340,966 (GRCm39) |
S400P |
probably benign |
Het |
Gldc |
A |
C |
19: 30,091,225 (GRCm39) |
V790G |
possibly damaging |
Het |
Gm14496 |
A |
C |
2: 181,633,026 (GRCm39) |
Q3P |
probably benign |
Het |
H2-D1 |
G |
A |
17: 35,482,564 (GRCm39) |
E95K |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,409,521 (GRCm39) |
E14G |
probably benign |
Het |
Jag1 |
A |
T |
2: 136,957,558 (GRCm39) |
N51K |
possibly damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,800,635 (GRCm39) |
D14G |
possibly damaging |
Het |
Krt84 |
A |
G |
15: 101,438,659 (GRCm39) |
V276A |
probably damaging |
Het |
Lamb1 |
T |
C |
12: 31,348,948 (GRCm39) |
I660T |
possibly damaging |
Het |
Lcmt2 |
A |
T |
2: 120,970,488 (GRCm39) |
S198R |
probably benign |
Het |
Lcn6 |
G |
A |
2: 25,567,131 (GRCm39) |
R44H |
probably benign |
Het |
Lrfn5 |
A |
T |
12: 61,886,527 (GRCm39) |
H105L |
probably damaging |
Het |
Lrit1 |
G |
A |
14: 36,784,091 (GRCm39) |
R473K |
probably benign |
Het |
Marchf1 |
A |
G |
8: 66,921,042 (GRCm39) |
T495A |
probably damaging |
Het |
Marveld3 |
T |
G |
8: 110,675,174 (GRCm39) |
|
probably null |
Het |
Mbd3 |
T |
C |
10: 80,230,420 (GRCm39) |
D160G |
possibly damaging |
Het |
Mrc2 |
T |
G |
11: 105,238,551 (GRCm39) |
C1233G |
probably damaging |
Het |
Ms4a13 |
T |
G |
19: 11,161,225 (GRCm39) |
T105P |
probably damaging |
Het |
Mtbp |
T |
C |
15: 55,480,951 (GRCm39) |
Y306H |
probably damaging |
Het |
Muc3a |
T |
C |
5: 137,244,958 (GRCm39) |
|
probably benign |
Het |
Myo1g |
T |
A |
11: 6,470,811 (GRCm39) |
Y15F |
probably benign |
Het |
Nae1 |
A |
T |
8: 105,250,216 (GRCm39) |
Y226N |
probably benign |
Het |
Nlrp9a |
A |
G |
7: 26,267,316 (GRCm39) |
S715G |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,633 (GRCm39) |
M282L |
probably benign |
Het |
Or2ag17 |
T |
C |
7: 106,390,028 (GRCm39) |
Y60C |
probably damaging |
Het |
Or4s2b |
T |
A |
2: 88,508,219 (GRCm39) |
S7T |
possibly damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,612 (GRCm39) |
S267C |
probably damaging |
Het |
Or8g55 |
G |
T |
9: 39,784,707 (GRCm39) |
M45I |
probably benign |
Het |
Pex5l |
T |
C |
3: 33,069,129 (GRCm39) |
T123A |
probably damaging |
Het |
Pip5kl1 |
A |
T |
2: 32,466,691 (GRCm39) |
N62I |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,408,890 (GRCm39) |
V2459A |
probably damaging |
Het |
Prb1a |
T |
A |
6: 132,184,439 (GRCm39) |
Q398L |
unknown |
Het |
Prkab2 |
T |
C |
3: 97,571,263 (GRCm39) |
L165S |
probably damaging |
Het |
Prl3d2 |
C |
G |
13: 27,305,689 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
G |
A |
13: 67,143,472 (GRCm39) |
G435D |
probably benign |
Het |
Qrfpr |
A |
G |
3: 36,236,729 (GRCm39) |
L224P |
probably damaging |
Het |
Rasl2-9 |
C |
T |
7: 5,128,441 (GRCm39) |
W163* |
probably null |
Het |
Rgs5 |
A |
G |
1: 169,517,983 (GRCm39) |
|
probably null |
Het |
Rnf19b |
T |
C |
4: 128,972,754 (GRCm39) |
L255P |
probably damaging |
Het |
Rp9 |
A |
C |
9: 22,368,751 (GRCm39) |
N69K |
probably damaging |
Het |
Sh3bp4 |
G |
T |
1: 89,073,210 (GRCm39) |
S686I |
probably damaging |
Het |
Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
Spp2 |
C |
A |
1: 88,340,015 (GRCm39) |
Q5K |
possibly damaging |
Het |
Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
Syncrip |
A |
C |
9: 88,361,949 (GRCm39) |
S55R |
probably damaging |
Het |
Tacc3 |
T |
C |
5: 33,818,652 (GRCm39) |
L29P |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,065,120 (GRCm39) |
T1517A |
probably damaging |
Het |
Tmem140 |
A |
G |
6: 34,849,660 (GRCm39) |
M59V |
probably benign |
Het |
Ttn |
G |
T |
2: 76,575,872 (GRCm39) |
A25007E |
probably damaging |
Het |
Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
Usp38 |
A |
G |
8: 81,722,399 (GRCm39) |
L374P |
probably damaging |
Het |
Vmn1r42 |
T |
A |
6: 89,822,483 (GRCm39) |
I29L |
probably benign |
Het |
Vmn2r94 |
C |
T |
17: 18,477,242 (GRCm39) |
V390M |
probably benign |
Het |
Vmp1 |
A |
G |
11: 86,552,026 (GRCm39) |
Y113H |
possibly damaging |
Het |
Wdr20 |
T |
C |
12: 110,760,464 (GRCm39) |
M450T |
probably benign |
Het |
Ylpm1 |
T |
C |
12: 85,061,770 (GRCm39) |
V557A |
unknown |
Het |
Zpld1 |
T |
C |
16: 55,053,935 (GRCm39) |
N286D |
probably damaging |
Het |
|
Other mutations in Ubr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Ubr2
|
APN |
17 |
47,296,986 (GRCm39) |
splice site |
probably benign |
|
IGL00332:Ubr2
|
APN |
17 |
47,301,916 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00518:Ubr2
|
APN |
17 |
47,303,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00693:Ubr2
|
APN |
17 |
47,283,907 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00785:Ubr2
|
APN |
17 |
47,255,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01144:Ubr2
|
APN |
17 |
47,268,247 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01459:Ubr2
|
APN |
17 |
47,241,435 (GRCm39) |
splice site |
probably benign |
|
IGL01637:Ubr2
|
APN |
17 |
47,267,580 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01710:Ubr2
|
APN |
17 |
47,254,335 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01726:Ubr2
|
APN |
17 |
47,303,907 (GRCm39) |
splice site |
probably benign |
|
IGL01925:Ubr2
|
APN |
17 |
47,265,875 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01960:Ubr2
|
APN |
17 |
47,284,893 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02170:Ubr2
|
APN |
17 |
47,278,123 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02308:Ubr2
|
APN |
17 |
47,245,119 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02387:Ubr2
|
APN |
17 |
47,274,076 (GRCm39) |
missense |
probably benign |
|
IGL02696:Ubr2
|
APN |
17 |
47,274,691 (GRCm39) |
missense |
probably benign |
|
IGL02726:Ubr2
|
APN |
17 |
47,283,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02750:Ubr2
|
APN |
17 |
47,280,208 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02934:Ubr2
|
APN |
17 |
47,268,266 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02959:Ubr2
|
APN |
17 |
47,286,877 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03018:Ubr2
|
APN |
17 |
47,264,972 (GRCm39) |
missense |
possibly damaging |
0.64 |
IGL03343:Ubr2
|
APN |
17 |
47,262,844 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4280001:Ubr2
|
UTSW |
17 |
47,255,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Ubr2
|
UTSW |
17 |
47,303,911 (GRCm39) |
splice site |
probably benign |
|
R0044:Ubr2
|
UTSW |
17 |
47,303,911 (GRCm39) |
splice site |
probably benign |
|
R0446:Ubr2
|
UTSW |
17 |
47,294,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R0513:Ubr2
|
UTSW |
17 |
47,297,705 (GRCm39) |
nonsense |
probably null |
|
R0565:Ubr2
|
UTSW |
17 |
47,266,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R0600:Ubr2
|
UTSW |
17 |
47,278,174 (GRCm39) |
missense |
probably damaging |
0.99 |
R0690:Ubr2
|
UTSW |
17 |
47,249,579 (GRCm39) |
missense |
probably damaging |
0.97 |
R0710:Ubr2
|
UTSW |
17 |
47,249,607 (GRCm39) |
missense |
probably damaging |
0.96 |
R0761:Ubr2
|
UTSW |
17 |
47,294,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R0798:Ubr2
|
UTSW |
17 |
47,280,102 (GRCm39) |
splice site |
probably benign |
|
R0862:Ubr2
|
UTSW |
17 |
47,278,009 (GRCm39) |
nonsense |
probably null |
|
R0947:Ubr2
|
UTSW |
17 |
47,252,038 (GRCm39) |
missense |
probably damaging |
0.99 |
R0972:Ubr2
|
UTSW |
17 |
47,245,187 (GRCm39) |
splice site |
probably null |
|
R1514:Ubr2
|
UTSW |
17 |
47,311,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1533:Ubr2
|
UTSW |
17 |
47,278,173 (GRCm39) |
nonsense |
probably null |
|
R1554:Ubr2
|
UTSW |
17 |
47,283,877 (GRCm39) |
missense |
probably benign |
|
R1575:Ubr2
|
UTSW |
17 |
47,243,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R1602:Ubr2
|
UTSW |
17 |
47,251,987 (GRCm39) |
missense |
probably benign |
0.30 |
R1941:Ubr2
|
UTSW |
17 |
47,284,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Ubr2
|
UTSW |
17 |
47,265,845 (GRCm39) |
missense |
probably benign |
0.05 |
R2041:Ubr2
|
UTSW |
17 |
47,296,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Ubr2
|
UTSW |
17 |
47,274,071 (GRCm39) |
critical splice donor site |
probably null |
|
R2111:Ubr2
|
UTSW |
17 |
47,274,071 (GRCm39) |
critical splice donor site |
probably null |
|
R2189:Ubr2
|
UTSW |
17 |
47,254,290 (GRCm39) |
missense |
probably benign |
0.01 |
R2219:Ubr2
|
UTSW |
17 |
47,296,968 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2307:Ubr2
|
UTSW |
17 |
47,277,141 (GRCm39) |
nonsense |
probably null |
|
R3426:Ubr2
|
UTSW |
17 |
47,279,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R3428:Ubr2
|
UTSW |
17 |
47,279,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R3608:Ubr2
|
UTSW |
17 |
47,255,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Ubr2
|
UTSW |
17 |
47,299,648 (GRCm39) |
missense |
probably benign |
0.05 |
R4330:Ubr2
|
UTSW |
17 |
47,278,204 (GRCm39) |
missense |
probably null |
1.00 |
R4383:Ubr2
|
UTSW |
17 |
47,250,313 (GRCm39) |
missense |
probably benign |
0.01 |
R4460:Ubr2
|
UTSW |
17 |
47,255,971 (GRCm39) |
critical splice donor site |
probably null |
|
R4794:Ubr2
|
UTSW |
17 |
47,241,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R4902:Ubr2
|
UTSW |
17 |
47,296,922 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4913:Ubr2
|
UTSW |
17 |
47,270,385 (GRCm39) |
splice site |
probably null |
|
R5092:Ubr2
|
UTSW |
17 |
47,280,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R5209:Ubr2
|
UTSW |
17 |
47,279,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R5226:Ubr2
|
UTSW |
17 |
47,294,196 (GRCm39) |
missense |
probably benign |
0.04 |
R5250:Ubr2
|
UTSW |
17 |
47,241,368 (GRCm39) |
missense |
probably benign |
0.01 |
R5437:Ubr2
|
UTSW |
17 |
47,274,623 (GRCm39) |
missense |
probably benign |
0.00 |
R5607:Ubr2
|
UTSW |
17 |
47,245,126 (GRCm39) |
nonsense |
probably null |
|
R5848:Ubr2
|
UTSW |
17 |
47,267,581 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6089:Ubr2
|
UTSW |
17 |
47,293,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6382:Ubr2
|
UTSW |
17 |
47,268,241 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6552:Ubr2
|
UTSW |
17 |
47,277,194 (GRCm39) |
splice site |
probably null |
|
R6630:Ubr2
|
UTSW |
17 |
47,262,910 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6892:Ubr2
|
UTSW |
17 |
47,245,034 (GRCm39) |
missense |
probably damaging |
0.99 |
R6936:Ubr2
|
UTSW |
17 |
47,283,957 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7039:Ubr2
|
UTSW |
17 |
47,321,139 (GRCm39) |
missense |
probably benign |
0.01 |
R7050:Ubr2
|
UTSW |
17 |
47,272,528 (GRCm39) |
missense |
probably benign |
0.30 |
R7078:Ubr2
|
UTSW |
17 |
47,266,779 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7126:Ubr2
|
UTSW |
17 |
47,284,982 (GRCm39) |
splice site |
probably null |
|
R7219:Ubr2
|
UTSW |
17 |
47,246,360 (GRCm39) |
nonsense |
probably null |
|
R7262:Ubr2
|
UTSW |
17 |
47,311,665 (GRCm39) |
missense |
probably damaging |
0.97 |
R7352:Ubr2
|
UTSW |
17 |
47,241,352 (GRCm39) |
missense |
probably benign |
0.19 |
R7366:Ubr2
|
UTSW |
17 |
47,266,771 (GRCm39) |
missense |
probably damaging |
0.99 |
R7449:Ubr2
|
UTSW |
17 |
47,275,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R7496:Ubr2
|
UTSW |
17 |
47,301,917 (GRCm39) |
critical splice donor site |
probably null |
|
R7759:Ubr2
|
UTSW |
17 |
47,296,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R7869:Ubr2
|
UTSW |
17 |
47,301,934 (GRCm39) |
missense |
probably benign |
0.00 |
R7916:Ubr2
|
UTSW |
17 |
47,279,308 (GRCm39) |
critical splice donor site |
probably null |
|
R8236:Ubr2
|
UTSW |
17 |
47,262,835 (GRCm39) |
missense |
probably benign |
|
R8376:Ubr2
|
UTSW |
17 |
47,253,721 (GRCm39) |
missense |
probably benign |
0.07 |
R9026:Ubr2
|
UTSW |
17 |
47,245,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Ubr2
|
UTSW |
17 |
47,292,285 (GRCm39) |
missense |
probably benign |
0.36 |
R9339:Ubr2
|
UTSW |
17 |
47,284,865 (GRCm39) |
missense |
probably benign |
0.30 |
R9558:Ubr2
|
UTSW |
17 |
47,262,843 (GRCm39) |
missense |
probably benign |
|
R9606:Ubr2
|
UTSW |
17 |
47,245,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R9644:Ubr2
|
UTSW |
17 |
47,266,706 (GRCm39) |
critical splice donor site |
probably null |
|
R9731:Ubr2
|
UTSW |
17 |
47,274,071 (GRCm39) |
critical splice donor site |
probably null |
|
X0027:Ubr2
|
UTSW |
17 |
47,311,555 (GRCm39) |
missense |
probably damaging |
0.99 |
X0061:Ubr2
|
UTSW |
17 |
47,281,037 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1177:Ubr2
|
UTSW |
17 |
47,311,692 (GRCm39) |
missense |
possibly damaging |
0.76 |
Z1177:Ubr2
|
UTSW |
17 |
47,270,435 (GRCm39) |
missense |
probably benign |
|
Z1177:Ubr2
|
UTSW |
17 |
47,321,069 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGGCCAGCTTATCTGTACGAAGTTC -3'
(R):5'- ACCGTCTAGCTAACAGCCTGCATC -3'
Sequencing Primer
(F):5'- ccagactttgggaggtagaaac -3'
(R):5'- TCTGGCCCGCACTTAAGC -3'
|
Posted On |
2014-04-13 |