Incidental Mutation 'R2219:Ubr2'
| ID |
241384 |
| 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 |
040221-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R2219 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
47239221-47321482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47296968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 271
(S271T)
|
| 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: S271T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: S271T
| 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: S271T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: S271T
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
A |
G |
7: 42,095,769 (GRCm39) |
Y160H |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,708,912 (GRCm39) |
N34K |
possibly damaging |
Het |
| Ago2 |
T |
A |
15: 73,018,260 (GRCm39) |
E59D |
probably benign |
Het |
| Akap8l |
G |
T |
17: 32,553,605 (GRCm39) |
Q372K |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,388,289 (GRCm39) |
|
probably null |
Het |
| Apc2 |
T |
C |
10: 80,144,943 (GRCm39) |
V618A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 29,764,047 (GRCm39) |
C2140S |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,410,831 (GRCm39) |
L671P |
probably damaging |
Het |
| Capn9 |
C |
T |
8: 125,335,898 (GRCm39) |
R529* |
probably null |
Het |
| Ccdc180 |
T |
A |
4: 45,944,949 (GRCm39) |
N1452K |
probably damaging |
Het |
| Cdh5 |
A |
T |
8: 104,869,538 (GRCm39) |
I755F |
possibly damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,538,741 (GRCm39) |
M473L |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,184 (GRCm39) |
I1614V |
probably damaging |
Het |
| Champ1 |
A |
G |
8: 13,930,017 (GRCm39) |
H725R |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,508,369 (GRCm39) |
T1294S |
possibly damaging |
Het |
| Cops8 |
A |
C |
1: 90,534,341 (GRCm39) |
N94T |
probably benign |
Het |
| Cpne7 |
G |
T |
8: 123,851,177 (GRCm39) |
V155L |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,338 (GRCm39) |
V703A |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,916,703 (GRCm39) |
L575P |
probably damaging |
Het |
| Dmc1 |
T |
A |
15: 79,469,327 (GRCm39) |
H156L |
possibly damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,899,654 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
G |
1: 34,209,514 (GRCm39) |
L869V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,849,142 (GRCm39) |
M180K |
probably benign |
Het |
| Erbb3 |
T |
C |
10: 128,405,740 (GRCm39) |
T1173A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,064,364 (GRCm39) |
K4773N |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,186,035 (GRCm39) |
P1771L |
possibly damaging |
Het |
| Fer1l4 |
T |
G |
2: 155,873,684 (GRCm39) |
Y1207S |
probably damaging |
Het |
| Fermt2 |
G |
A |
14: 45,713,354 (GRCm39) |
T87I |
probably benign |
Het |
| Fpr3 |
T |
A |
17: 18,191,644 (GRCm39) |
M305K |
possibly damaging |
Het |
| Fzd2 |
A |
G |
11: 102,496,249 (GRCm39) |
E231G |
probably benign |
Het |
| Ggcx |
T |
C |
6: 72,404,965 (GRCm39) |
Y458H |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,337,639 (GRCm39) |
S504P |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
| Gm5475 |
A |
G |
15: 100,322,094 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
| Itln1 |
T |
A |
1: 171,359,115 (GRCm39) |
T122S |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,334,027 (GRCm39) |
L2033Q |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,919,565 (GRCm39) |
D2222G |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,247,845 (GRCm39) |
L334P |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,425,249 (GRCm39) |
|
probably null |
Het |
| Man1a |
T |
C |
10: 53,853,145 (GRCm39) |
I324M |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,233,607 (GRCm39) |
E994G |
probably damaging |
Het |
| Mettl21a |
A |
T |
1: 64,655,442 (GRCm39) |
V46E |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,096,801 (GRCm39) |
D398G |
probably benign |
Het |
| Mybpc1 |
T |
A |
10: 88,391,540 (GRCm39) |
D319V |
probably damaging |
Het |
| Or10ad1c |
T |
A |
15: 98,084,848 (GRCm39) |
K277* |
probably null |
Het |
| Or4a47 |
A |
T |
2: 89,665,769 (GRCm39) |
D173E |
probably damaging |
Het |
| Or4a78 |
A |
T |
2: 89,498,211 (GRCm39) |
N6K |
possibly damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,256 (GRCm39) |
V45I |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,752 (GRCm39) |
I98N |
probably damaging |
Het |
| Or5b113 |
T |
A |
19: 13,342,901 (GRCm39) |
I303N |
possibly damaging |
Het |
| Or5p5 |
G |
A |
7: 107,414,429 (GRCm39) |
V213I |
probably benign |
Het |
| Or9m1 |
A |
C |
2: 87,733,269 (GRCm39) |
Y250* |
probably null |
Het |
| Otogl |
C |
T |
10: 107,692,838 (GRCm39) |
C882Y |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,117,783 (GRCm39) |
Y868H |
probably damaging |
Het |
| Pick1 |
T |
A |
15: 79,123,899 (GRCm39) |
I90N |
probably damaging |
Het |
| Piezo1 |
C |
T |
8: 123,218,227 (GRCm39) |
V1170I |
probably benign |
Het |
| Pim3 |
G |
A |
15: 88,747,115 (GRCm39) |
V54I |
possibly damaging |
Het |
| Pinlyp |
T |
C |
7: 24,245,433 (GRCm39) |
|
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,900,488 (GRCm39) |
N87K |
probably benign |
Het |
| Ppfia3 |
G |
A |
7: 45,004,314 (GRCm39) |
Q473* |
probably null |
Het |
| Rab3gap2 |
G |
A |
1: 185,008,113 (GRCm39) |
G1056E |
probably damaging |
Het |
| Ralgapa2 |
G |
A |
2: 146,263,599 (GRCm39) |
T706I |
probably benign |
Het |
| Reln |
T |
C |
5: 22,177,045 (GRCm39) |
T1874A |
possibly damaging |
Het |
| Rftn1 |
C |
A |
17: 50,476,173 (GRCm39) |
M1I |
probably null |
Het |
| Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
| Slc11a1 |
T |
A |
1: 74,419,824 (GRCm39) |
F166I |
probably damaging |
Het |
| Slc17a9 |
A |
G |
2: 180,373,755 (GRCm39) |
T59A |
probably benign |
Het |
| Slc26a5 |
T |
C |
5: 22,028,476 (GRCm39) |
K364R |
probably damaging |
Het |
| Slitrk2 |
T |
C |
X: 65,698,754 (GRCm39) |
I415T |
probably damaging |
Het |
| Stom |
A |
G |
2: 35,211,613 (GRCm39) |
I136T |
possibly damaging |
Het |
| Strc |
G |
T |
2: 121,195,004 (GRCm39) |
P1728T |
probably damaging |
Het |
| Telo2 |
C |
A |
17: 25,322,673 (GRCm39) |
V640F |
probably benign |
Het |
| Tg |
T |
C |
15: 66,553,782 (GRCm39) |
V399A |
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,030,975 (GRCm39) |
K383E |
possibly damaging |
Het |
| Tomm40l |
A |
T |
1: 171,049,550 (GRCm39) |
L13* |
probably null |
Het |
| Tonsl |
A |
T |
15: 76,518,840 (GRCm39) |
N526K |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,258,965 (GRCm39) |
M240L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,312,749 (GRCm39) |
N353K |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,151,191 (GRCm39) |
F266I |
possibly damaging |
Het |
| Vmn2r103 |
C |
T |
17: 20,013,909 (GRCm39) |
R234W |
probably damaging |
Het |
| Zfp109 |
C |
A |
7: 23,927,886 (GRCm39) |
D508Y |
probably damaging |
Het |
| Zfp623 |
T |
C |
15: 75,819,379 (GRCm39) |
S112P |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,601,851 (GRCm39) |
N265S |
possibly damaging |
Het |
| Zfp879 |
A |
G |
11: 50,724,094 (GRCm39) |
C321R |
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 |
|
|
R1500:Ubr2
|
UTSW |
17 |
47,297,615 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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'- TGGAAATACAGCTCACGTGATAC -3'
(R):5'- ACCTGTCGTGAGAGTAAAACAC -3'
Sequencing Primer
(F):5'- TACAGCTCACGTGATACTGGACG -3'
(R):5'- TACACACACACTGGTAGTTTAAGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation