Incidental Mutation 'R0600:Ubr2'
ID |
55348 |
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 |
038789-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R0600 (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 47278174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 721
(Y721C)
|
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: Y721C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108961 Gene: ENSMUSG00000023977 AA Change: Y721C
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: Y721C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108963 Gene: ENSMUSG00000023977 AA Change: Y721C
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 |
0.1950 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.5%
|
Validation Efficiency |
99% (95/96) |
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057M21Rik |
A |
G |
7: 130,959,389 (GRCm39) |
S150P |
probably damaging |
Het |
5530400C23Rik |
T |
G |
6: 133,270,174 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
A |
C |
1: 179,591,033 (GRCm39) |
|
probably null |
Het |
Ang5 |
T |
C |
14: 44,200,206 (GRCm39) |
V90A |
probably benign |
Het |
Ano9 |
C |
T |
7: 140,684,623 (GRCm39) |
G442R |
probably damaging |
Het |
Apaf1 |
G |
A |
10: 90,895,914 (GRCm39) |
T386I |
probably damaging |
Het |
Apob |
C |
A |
12: 8,056,440 (GRCm39) |
H1608N |
probably damaging |
Het |
Arhgap12 |
C |
A |
18: 6,064,433 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
T |
A |
2: 153,241,824 (GRCm39) |
D791E |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,713,891 (GRCm39) |
V383A |
probably benign |
Het |
Btbd1 |
A |
C |
7: 81,465,754 (GRCm39) |
D197E |
probably damaging |
Het |
Camta2 |
T |
C |
11: 70,564,785 (GRCm39) |
I938V |
possibly damaging |
Het |
Ccn5 |
G |
A |
2: 163,667,233 (GRCm39) |
C78Y |
probably damaging |
Het |
Cdca7 |
C |
A |
2: 72,313,811 (GRCm39) |
A200D |
possibly damaging |
Het |
Cep104 |
A |
T |
4: 154,091,249 (GRCm39) |
Y923F |
possibly damaging |
Het |
Cep135 |
G |
C |
5: 76,769,152 (GRCm39) |
V601L |
probably benign |
Het |
Ces2b |
G |
A |
8: 105,562,542 (GRCm39) |
G291S |
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,638,639 (GRCm39) |
G1400D |
probably damaging |
Het |
Cyth2 |
T |
C |
7: 45,462,541 (GRCm39) |
E1G |
probably damaging |
Het |
Dand5 |
A |
T |
8: 85,542,921 (GRCm39) |
L185Q |
probably damaging |
Het |
Dck |
T |
C |
5: 88,929,080 (GRCm39) |
V253A |
probably benign |
Het |
Ddx20 |
A |
G |
3: 105,586,396 (GRCm39) |
S650P |
probably damaging |
Het |
Dicer1 |
G |
A |
12: 104,673,123 (GRCm39) |
P799S |
probably damaging |
Het |
Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
Eya2 |
G |
A |
2: 165,611,157 (GRCm39) |
C477Y |
probably damaging |
Het |
Fip1l1 |
T |
A |
5: 74,756,503 (GRCm39) |
N498K |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
Galntl6 |
T |
C |
8: 58,290,217 (GRCm39) |
|
probably null |
Het |
Gda |
A |
T |
19: 21,411,667 (GRCm39) |
F44I |
possibly damaging |
Het |
Gli2 |
G |
A |
1: 118,768,119 (GRCm39) |
R703C |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,736,633 (GRCm39) |
L1960Q |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,219,651 (GRCm39) |
D341G |
probably damaging |
Het |
Grid2 |
G |
T |
6: 63,480,419 (GRCm39) |
A78S |
probably benign |
Het |
Hao2 |
A |
T |
3: 98,790,876 (GRCm39) |
|
probably benign |
Het |
Hook3 |
A |
G |
8: 26,609,014 (GRCm39) |
V10A |
probably benign |
Het |
Kif20a |
A |
G |
18: 34,762,262 (GRCm39) |
E425G |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,403,252 (GRCm39) |
D2107G |
probably benign |
Het |
Lrriq3 |
T |
C |
3: 154,893,373 (GRCm39) |
I358T |
possibly damaging |
Het |
Mad2l2 |
A |
G |
4: 148,225,381 (GRCm39) |
D17G |
possibly damaging |
Het |
Mastl |
G |
T |
2: 23,023,358 (GRCm39) |
T455K |
probably benign |
Het |
Mkln1 |
G |
T |
6: 31,409,862 (GRCm39) |
|
probably benign |
Het |
Mmp1b |
A |
T |
9: 7,387,947 (GRCm39) |
Y16N |
possibly damaging |
Het |
Mmp24 |
C |
T |
2: 155,634,517 (GRCm39) |
A79V |
probably benign |
Het |
Mrps35 |
T |
A |
6: 146,972,232 (GRCm39) |
C292S |
possibly damaging |
Het |
Myom1 |
T |
C |
17: 71,427,643 (GRCm39) |
F1435L |
possibly damaging |
Het |
Nars2 |
C |
T |
7: 96,689,130 (GRCm39) |
H351Y |
probably damaging |
Het |
Nat2 |
A |
T |
8: 67,953,919 (GRCm39) |
I10F |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Olfm5 |
A |
T |
7: 103,803,076 (GRCm39) |
Y462* |
probably null |
Het |
Or13p5 |
C |
T |
4: 118,591,986 (GRCm39) |
H87Y |
probably damaging |
Het |
Or1j12 |
C |
A |
2: 36,342,660 (GRCm39) |
A21E |
probably benign |
Het |
Or2w3 |
C |
A |
11: 58,556,986 (GRCm39) |
F200L |
probably damaging |
Het |
Or4c122 |
C |
A |
2: 89,079,742 (GRCm39) |
E87* |
probably null |
Het |
Or4e1 |
T |
C |
14: 52,700,966 (GRCm39) |
I167V |
probably benign |
Het |
Or5p70 |
T |
A |
7: 107,994,438 (GRCm39) |
I37N |
probably damaging |
Het |
Or7g35 |
T |
C |
9: 19,496,600 (GRCm39) |
S256P |
possibly damaging |
Het |
Or8d2b |
T |
A |
9: 38,789,111 (GRCm39) |
I213N |
probably damaging |
Het |
Or8g20 |
A |
T |
9: 39,396,284 (GRCm39) |
F85L |
probably benign |
Het |
Otog |
A |
T |
7: 45,900,819 (GRCm39) |
|
probably benign |
Het |
Pdcd2l |
A |
T |
7: 33,892,232 (GRCm39) |
D212E |
possibly damaging |
Het |
Pex5 |
T |
C |
6: 124,381,596 (GRCm39) |
N213S |
probably benign |
Het |
Pkn3 |
C |
T |
2: 29,971,146 (GRCm39) |
P238S |
probably benign |
Het |
Pramel32 |
A |
T |
4: 88,547,536 (GRCm39) |
I45K |
probably damaging |
Het |
Prl2b1 |
A |
T |
13: 27,574,723 (GRCm39) |
|
probably null |
Het |
Ptprb |
A |
T |
10: 116,204,712 (GRCm39) |
I1849L |
possibly damaging |
Het |
Rasal3 |
G |
T |
17: 32,612,500 (GRCm39) |
S787Y |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,532,177 (GRCm39) |
D596E |
possibly damaging |
Het |
Sdhd |
A |
T |
9: 50,515,064 (GRCm39) |
V9D |
possibly damaging |
Het |
Serinc5 |
T |
C |
13: 92,844,565 (GRCm39) |
S436P |
probably damaging |
Het |
Slc27a1 |
C |
T |
8: 72,036,808 (GRCm39) |
P348L |
probably damaging |
Het |
Slc28a2b |
A |
T |
2: 122,344,879 (GRCm39) |
I162F |
probably damaging |
Het |
Smg1 |
G |
A |
7: 117,759,606 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,955,196 (GRCm39) |
|
probably benign |
Het |
Sprtn |
T |
A |
8: 125,626,957 (GRCm39) |
H112Q |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,626,054 (GRCm39) |
F1299I |
probably benign |
Het |
Tet2 |
A |
G |
3: 133,173,363 (GRCm39) |
M1633T |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,173,486 (GRCm39) |
D1592V |
probably benign |
Het |
Tmem68 |
A |
T |
4: 3,569,667 (GRCm39) |
C8S |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,771,039 (GRCm39) |
I943N |
probably benign |
Het |
Trib2 |
A |
T |
12: 15,844,069 (GRCm39) |
V191D |
probably damaging |
Het |
Tsc22d4 |
T |
C |
5: 137,760,917 (GRCm39) |
S113P |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,069,914 (GRCm39) |
R250G |
probably damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,660 (GRCm39) |
I63F |
probably damaging |
Het |
Ush1c |
G |
A |
7: 45,874,332 (GRCm39) |
P171S |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,603,323 (GRCm39) |
N1843K |
probably damaging |
Het |
Vangl1 |
A |
G |
3: 102,074,253 (GRCm39) |
Y285H |
probably damaging |
Het |
Virma |
A |
G |
4: 11,498,769 (GRCm39) |
D70G |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,898,277 (GRCm39) |
F431L |
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,114,530 (GRCm39) |
I662T |
probably damaging |
Het |
Wdr87-ps |
T |
A |
7: 29,232,690 (GRCm39) |
|
noncoding transcript |
Het |
Zfp160 |
G |
A |
17: 21,247,268 (GRCm39) |
R606H |
probably benign |
Het |
Zfp369 |
C |
T |
13: 65,444,248 (GRCm39) |
R464C |
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 |
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 |
|
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'- CTCACCCACAAGCATGATGATGAGG -3'
(R):5'- GCAGCGAAATTCATAGCCGTGTCC -3'
Sequencing Primer
(F):5'- AGGTAGAGCATCTCTTCGATCAG -3'
(R):5'- CTCTTGGCAGCCACATGATATAG -3'
|
Posted On |
2013-07-11 |