Incidental Mutation 'R5092:Ubr2'
ID |
387879 |
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 |
042681-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R5092 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
47239221-47321482 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47280173 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 659
(C659S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113335]
[ENSMUST00000113337]
[ENSMUST00000225599]
|
AlphaFold |
Q6WKZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113335
AA Change: C659S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108961 Gene: ENSMUSG00000023977 AA Change: C659S
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 |
probably damaging
Transcript: ENSMUST00000113337
AA Change: C659S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108963 Gene: ENSMUSG00000023977 AA Change: C659S
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: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
T |
7: 40,637,091 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
A |
11: 9,208,535 (GRCm39) |
L236Q |
probably damaging |
Het |
Acp2 |
A |
T |
2: 91,038,391 (GRCm39) |
T255S |
probably benign |
Het |
Acsf3 |
A |
C |
8: 123,544,131 (GRCm39) |
R536S |
probably benign |
Het |
Adgrb1 |
T |
G |
15: 74,401,664 (GRCm39) |
V220G |
probably benign |
Het |
Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
Atp5f1b |
A |
G |
10: 127,919,854 (GRCm39) |
Q74R |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,054,234 (GRCm39) |
M3118L |
probably benign |
Het |
Brf1 |
G |
A |
12: 112,943,352 (GRCm39) |
T166M |
probably damaging |
Het |
Capn9 |
A |
G |
8: 125,324,264 (GRCm39) |
K188R |
probably damaging |
Het |
Casp8 |
A |
T |
1: 58,883,835 (GRCm39) |
N381Y |
possibly damaging |
Het |
Ccdc88b |
A |
G |
19: 6,825,600 (GRCm39) |
S1218P |
probably damaging |
Het |
Cdc42bpg |
C |
T |
19: 6,363,250 (GRCm39) |
P403S |
probably benign |
Het |
Cdkal1 |
T |
A |
13: 30,030,222 (GRCm39) |
Y91F |
probably damaging |
Het |
Cdyl2 |
T |
C |
8: 117,350,679 (GRCm39) |
N151D |
possibly damaging |
Het |
Cnot1 |
T |
A |
8: 96,479,396 (GRCm39) |
R875S |
possibly damaging |
Het |
Cpd |
A |
G |
11: 76,702,530 (GRCm39) |
S613P |
possibly damaging |
Het |
Cyp2e1 |
G |
T |
7: 140,354,648 (GRCm39) |
R492L |
probably damaging |
Het |
D5Ertd579e |
G |
A |
5: 36,760,047 (GRCm39) |
T1371M |
probably benign |
Het |
Dcaf8 |
A |
G |
1: 172,014,476 (GRCm39) |
T394A |
probably benign |
Het |
Dgka |
T |
C |
10: 128,571,702 (GRCm39) |
E117G |
probably damaging |
Het |
Dock4 |
G |
A |
12: 40,894,440 (GRCm39) |
V1867I |
probably benign |
Het |
E2f2 |
G |
T |
4: 135,914,248 (GRCm39) |
A333S |
probably benign |
Het |
Eif3l |
T |
C |
15: 78,968,354 (GRCm39) |
S208P |
probably benign |
Het |
Elovl3 |
A |
T |
19: 46,122,961 (GRCm39) |
H179L |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,758,875 (GRCm39) |
D1766G |
probably damaging |
Het |
Eno4 |
A |
G |
19: 58,934,023 (GRCm39) |
T75A |
probably benign |
Het |
Fam135a |
C |
T |
1: 24,067,888 (GRCm39) |
D94N |
probably benign |
Het |
Fasn |
G |
T |
11: 120,705,862 (GRCm39) |
Q1136K |
probably benign |
Het |
Fcer1a |
T |
G |
1: 173,053,022 (GRCm39) |
N58T |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,272,941 (GRCm39) |
D763V |
probably damaging |
Het |
Gm43518 |
A |
G |
5: 124,076,297 (GRCm39) |
T115A |
probably damaging |
Het |
Gria4 |
C |
T |
9: 4,472,176 (GRCm39) |
E438K |
probably benign |
Het |
Grin2d |
T |
C |
7: 45,503,692 (GRCm39) |
E681G |
probably damaging |
Het |
Gtf3c5 |
G |
T |
2: 28,472,885 (GRCm39) |
N35K |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,309,300 (GRCm39) |
T4031A |
probably benign |
Het |
Igfn1 |
G |
T |
1: 135,892,564 (GRCm39) |
N2185K |
probably benign |
Het |
Il17rb |
T |
C |
14: 29,724,333 (GRCm39) |
T174A |
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,946,515 (GRCm39) |
C835S |
probably benign |
Het |
Lgi2 |
A |
T |
5: 52,695,429 (GRCm39) |
I510N |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,979,054 (GRCm39) |
E1164G |
probably benign |
Het |
Mpv17l |
T |
A |
16: 13,758,537 (GRCm39) |
M1K |
probably null |
Het |
Myoc |
T |
A |
1: 162,467,203 (GRCm39) |
L124Q |
probably damaging |
Het |
Nbeal2 |
C |
A |
9: 110,455,796 (GRCm39) |
|
probably null |
Het |
Nek10 |
A |
G |
14: 14,820,851 (GRCm38) |
K13E |
possibly damaging |
Het |
Nt5dc2 |
A |
G |
14: 30,860,989 (GRCm39) |
H491R |
possibly damaging |
Het |
Or4f61 |
A |
C |
2: 111,922,452 (GRCm39) |
M198R |
possibly damaging |
Het |
Or51b6 |
T |
A |
7: 103,556,406 (GRCm39) |
Y250* |
probably null |
Het |
Or8k21 |
T |
C |
2: 86,144,706 (GRCm39) |
Q308R |
probably benign |
Het |
Pclo |
T |
A |
5: 14,727,322 (GRCm39) |
|
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
Phf20l1 |
T |
A |
15: 66,508,762 (GRCm39) |
S873T |
possibly damaging |
Het |
Plch1 |
T |
C |
3: 63,606,131 (GRCm39) |
T1249A |
probably benign |
Het |
Plekhn1 |
A |
T |
4: 156,309,222 (GRCm39) |
I228N |
possibly damaging |
Het |
Ppp1r12a |
A |
T |
10: 108,103,263 (GRCm39) |
|
probably null |
Het |
Ptchd3 |
T |
C |
11: 121,721,972 (GRCm39) |
Y282H |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,468,769 (GRCm39) |
N1396K |
probably damaging |
Het |
Rap1gap2 |
T |
C |
11: 74,329,121 (GRCm39) |
E81G |
probably damaging |
Het |
Rpf2 |
T |
C |
10: 40,122,971 (GRCm39) |
M1V |
probably null |
Het |
Rpgrip1l |
G |
A |
8: 91,948,012 (GRCm39) |
Q1224* |
probably null |
Het |
Rreb1 |
A |
G |
13: 38,112,254 (GRCm39) |
D286G |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Senp5 |
A |
T |
16: 31,807,960 (GRCm39) |
N431K |
probably benign |
Het |
Serpina1f |
A |
C |
12: 103,659,809 (GRCm39) |
S158A |
probably damaging |
Het |
Sertad3 |
T |
A |
7: 27,176,145 (GRCm39) |
I193N |
probably damaging |
Het |
Slc22a8 |
T |
A |
19: 8,571,528 (GRCm39) |
N86K |
probably damaging |
Het |
Slc6a2 |
T |
C |
8: 93,721,347 (GRCm39) |
V492A |
possibly damaging |
Het |
Slf2 |
T |
A |
19: 44,940,523 (GRCm39) |
D773E |
probably benign |
Het |
Slmap |
A |
C |
14: 26,184,744 (GRCm39) |
L272R |
probably damaging |
Het |
Smyd5 |
T |
C |
6: 85,422,185 (GRCm39) |
|
probably benign |
Het |
Snx21 |
G |
T |
2: 164,628,666 (GRCm39) |
R103L |
probably damaging |
Het |
Sphk2 |
T |
A |
7: 45,361,777 (GRCm39) |
|
probably null |
Het |
Stab1 |
T |
C |
14: 30,867,812 (GRCm39) |
K1653E |
probably benign |
Het |
Syde1 |
A |
G |
10: 78,425,252 (GRCm39) |
V253A |
probably benign |
Het |
Sympk |
G |
T |
7: 18,776,584 (GRCm39) |
R492L |
probably benign |
Het |
Taar7f |
T |
C |
10: 23,925,451 (GRCm39) |
I15T |
probably benign |
Het |
Tas2r140 |
A |
G |
6: 40,468,200 (GRCm39) |
D10G |
probably benign |
Het |
Tbcc |
A |
G |
17: 47,202,600 (GRCm39) |
S329G |
probably benign |
Het |
Teddm3 |
G |
A |
16: 20,971,900 (GRCm39) |
T223M |
probably benign |
Het |
Tex14 |
G |
T |
11: 87,405,668 (GRCm39) |
C860F |
probably benign |
Het |
Thada |
A |
T |
17: 84,751,896 (GRCm39) |
L360Q |
probably damaging |
Het |
Thop1 |
C |
A |
10: 80,916,412 (GRCm39) |
H473Q |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,163,310 (GRCm39) |
D1075G |
probably benign |
Het |
Tmem130 |
G |
A |
5: 144,680,528 (GRCm39) |
T292I |
probably benign |
Het |
Tmem198b |
T |
C |
10: 128,637,305 (GRCm39) |
N278S |
probably benign |
Het |
Ttc21a |
A |
T |
9: 119,771,731 (GRCm39) |
T177S |
probably benign |
Het |
Vmn2r4 |
T |
C |
3: 64,298,373 (GRCm39) |
K585R |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,282,456 (GRCm39) |
I720T |
probably damaging |
Het |
Wdr35 |
G |
T |
12: 9,037,327 (GRCm39) |
W311L |
probably damaging |
Het |
Zfp39 |
A |
T |
11: 58,782,028 (GRCm39) |
F245I |
possibly damaging |
Het |
Zftraf1 |
A |
T |
15: 76,530,512 (GRCm39) |
F269L |
probably benign |
Het |
Zmym5 |
G |
A |
14: 57,034,236 (GRCm39) |
T325I |
probably benign |
Het |
Zng1 |
A |
T |
19: 24,898,383 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- GATGCAAAATCCTCAATGGCTATG -3'
(R):5'- TTTCTCATAAAGAATGCCTCTCACC -3'
Sequencing Primer
(F):5'- CCTCAATGGCTATGTCCATTTAAAAC -3'
(R):5'- TCTCACCCTCAAATAGATGGAGCTG -3'
|
Posted On |
2016-06-06 |