Incidental Mutation 'R0513:Ubr2'
| ID |
48059 |
| 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 |
038707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R0513 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
47239221-47321482 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 47297705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 223
(K223*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113335]
[ENSMUST00000113337]
[ENSMUST00000225599]
|
| AlphaFold |
Q6WKZ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000113335
AA Change: K223*
|
| SMART Domains |
Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: K223*
| 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 null
Transcript: ENSMUST00000113337
AA Change: K223*
|
| SMART Domains |
Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: K223*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
99% (122/123) |
| 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: 118 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,195 (GRCm39) |
T146A |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,192,984 (GRCm39) |
S121P |
possibly damaging |
Het |
| Actr2 |
T |
C |
11: 20,030,124 (GRCm39) |
T212A |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,347,088 (GRCm39) |
D368E |
probably benign |
Het |
| Albfm1 |
A |
T |
5: 90,725,786 (GRCm39) |
T333S |
probably benign |
Het |
| Anapc15 |
T |
C |
7: 101,547,747 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,256,678 (GRCm39) |
R67G |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,286,459 (GRCm39) |
D697G |
probably damaging |
Het |
| Arhgap42 |
A |
T |
9: 9,005,766 (GRCm39) |
S755T |
probably benign |
Het |
| Atm |
A |
G |
9: 53,415,248 (GRCm39) |
V881A |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,809,948 (GRCm39) |
|
probably benign |
Het |
| Cfap20dc |
A |
C |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,877,215 (GRCm39) |
N491K |
possibly damaging |
Het |
| Chgb |
T |
C |
2: 132,627,897 (GRCm39) |
|
probably benign |
Het |
| Chrna1 |
C |
A |
2: 73,398,426 (GRCm39) |
|
probably benign |
Het |
| Chst10 |
A |
G |
1: 38,904,844 (GRCm39) |
L283P |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,466,323 (GRCm39) |
|
probably null |
Het |
| Crppa |
A |
T |
12: 36,440,467 (GRCm39) |
H125L |
probably damaging |
Het |
| Cryzl1 |
G |
T |
16: 91,496,175 (GRCm39) |
A1E |
possibly damaging |
Het |
| Csnk1a1 |
T |
C |
18: 61,709,618 (GRCm39) |
Y213H |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,805,375 (GRCm39) |
Q2062R |
probably benign |
Het |
| Ctnnal1 |
A |
G |
4: 56,835,348 (GRCm39) |
C310R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,228 (GRCm39) |
E906G |
probably benign |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,755 (GRCm39) |
|
probably benign |
Het |
| Dag1 |
G |
A |
9: 108,085,684 (GRCm39) |
P486S |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,804,361 (GRCm39) |
L33P |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,051,164 (GRCm39) |
G856R |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,258,612 (GRCm39) |
|
probably benign |
Het |
| Dtl |
A |
T |
1: 191,301,819 (GRCm39) |
Y79* |
probably null |
Het |
| Egfr |
T |
G |
11: 16,822,855 (GRCm39) |
L406R |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,800,695 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,310,621 (GRCm39) |
|
probably null |
Het |
| Frs2 |
T |
C |
10: 116,910,570 (GRCm39) |
E264G |
possibly damaging |
Het |
| Fscn2 |
G |
T |
11: 120,252,706 (GRCm39) |
V58L |
probably damaging |
Het |
| Gm17324 |
G |
A |
9: 78,356,007 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,425,086 (GRCm39) |
N357K |
probably benign |
Het |
| Gm9956 |
G |
T |
10: 56,621,291 (GRCm39) |
|
|
Het |
| Gsg1l |
C |
T |
7: 125,619,795 (GRCm39) |
|
probably null |
Het |
| Herc1 |
G |
A |
9: 66,352,927 (GRCm39) |
V2138M |
possibly damaging |
Het |
| Htr2a |
T |
C |
14: 74,943,764 (GRCm39) |
L448P |
probably benign |
Het |
| Ing3 |
C |
T |
6: 21,970,034 (GRCm39) |
S255L |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,859,384 (GRCm39) |
D271G |
probably damaging |
Het |
| Lmbrd2 |
T |
A |
15: 9,194,816 (GRCm39) |
L606H |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,252,906 (GRCm39) |
N53K |
probably damaging |
Het |
| Lsr |
G |
C |
7: 30,657,763 (GRCm39) |
A467G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,823,038 (GRCm39) |
|
probably null |
Het |
| Mill1 |
T |
A |
7: 17,998,802 (GRCm39) |
Y337* |
probably null |
Het |
| Mlxipl |
A |
T |
5: 135,166,117 (GRCm39) |
Q833L |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,874,515 (GRCm39) |
V278M |
probably damaging |
Het |
| Mxra8 |
A |
C |
4: 155,926,190 (GRCm39) |
M180L |
probably benign |
Het |
| Myo18a |
A |
T |
11: 77,702,420 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
G |
11: 75,556,657 (GRCm39) |
|
probably null |
Het |
| Myo1g |
T |
C |
11: 6,460,203 (GRCm39) |
T782A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,975,401 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,198,699 (GRCm39) |
D414G |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,328,256 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,741,185 (GRCm39) |
K343R |
possibly damaging |
Het |
| Nfasc |
A |
T |
1: 132,531,584 (GRCm39) |
D733E |
possibly damaging |
Het |
| Nolc1 |
G |
A |
19: 46,072,598 (GRCm39) |
D699N |
probably damaging |
Het |
| Nrbp2 |
C |
T |
15: 75,960,825 (GRCm39) |
A45T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,952,348 (GRCm39) |
V3907A |
possibly damaging |
Het |
| Or2b6 |
A |
T |
13: 21,823,119 (GRCm39) |
D191E |
probably benign |
Het |
| Or2y6 |
T |
C |
11: 52,104,576 (GRCm39) |
Q80R |
possibly damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pank2 |
C |
T |
2: 131,124,526 (GRCm39) |
T290I |
probably damaging |
Het |
| Pbx4 |
T |
C |
8: 70,317,529 (GRCm39) |
V171A |
probably benign |
Het |
| Pcgf1 |
G |
T |
6: 83,057,555 (GRCm39) |
V75F |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,515,660 (GRCm39) |
S778P |
probably damaging |
Het |
| Pld6 |
T |
C |
11: 59,676,047 (GRCm39) |
I141M |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,914,864 (GRCm39) |
V2508E |
probably damaging |
Het |
| Prkca |
C |
G |
11: 107,905,202 (GRCm39) |
D179H |
possibly damaging |
Het |
| Pspn |
T |
C |
17: 57,306,720 (GRCm39) |
S70G |
probably damaging |
Het |
| Ptchd4 |
C |
T |
17: 42,814,637 (GRCm39) |
T846I |
probably benign |
Het |
| Reg3g |
A |
C |
6: 78,444,827 (GRCm39) |
Y50* |
probably null |
Het |
| Rev3l |
C |
T |
10: 39,704,139 (GRCm39) |
H2062Y |
probably benign |
Het |
| Rsph4a |
C |
T |
10: 33,788,987 (GRCm39) |
Q611* |
probably null |
Het |
| Scart1 |
C |
A |
7: 139,804,873 (GRCm39) |
C625* |
probably null |
Het |
| Scgb1b20 |
G |
A |
7: 33,072,739 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
C |
6: 85,246,955 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,857,651 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,762 (GRCm39) |
I37V |
probably benign |
Het |
| Slc35f5 |
T |
C |
1: 125,503,906 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
A |
C |
7: 15,891,264 (GRCm39) |
D768A |
probably damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,924,909 (GRCm39) |
|
noncoding transcript |
Het |
| Smurf2 |
T |
A |
11: 106,726,931 (GRCm39) |
T453S |
probably benign |
Het |
| Spag16 |
A |
G |
1: 70,532,927 (GRCm39) |
|
probably benign |
Het |
| Spindoc |
G |
A |
19: 7,351,509 (GRCm39) |
T205I |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,870,902 (GRCm39) |
I1316V |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,646,900 (GRCm39) |
R187G |
probably damaging |
Het |
| Tcea2 |
A |
C |
2: 181,326,274 (GRCm39) |
T93P |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,830 (GRCm39) |
M2311T |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,788,026 (GRCm39) |
Q260R |
probably benign |
Het |
| Tnpo2 |
A |
T |
8: 85,780,158 (GRCm39) |
H698L |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,700 (GRCm39) |
D215G |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,227,071 (GRCm39) |
I727N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,773,669 (GRCm39) |
K2271N |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,144,186 (GRCm39) |
M1410V |
possibly damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,151,271 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
T |
A |
9: 120,981,391 (GRCm39) |
H880L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,661,633 (GRCm39) |
C1686Y |
possibly damaging |
Het |
| Upf2 |
T |
A |
2: 5,962,478 (GRCm39) |
L60Q |
unknown |
Het |
| Usf2 |
A |
T |
7: 30,654,161 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,586 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
T |
A |
1: 171,110,588 (GRCm39) |
|
probably benign |
Het |
| Vmn2r118 |
T |
A |
17: 55,917,970 (GRCm39) |
K181* |
probably null |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,991 (GRCm39) |
S693T |
possibly damaging |
Het |
| Vmn2r76 |
C |
A |
7: 85,877,987 (GRCm39) |
G470V |
probably benign |
Het |
| Vps13c |
A |
C |
9: 67,838,017 (GRCm39) |
I1856L |
probably benign |
Het |
| Vps50 |
C |
T |
6: 3,520,210 (GRCm39) |
L119F |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,038,655 (GRCm39) |
S2012C |
probably damaging |
Het |
| Zfp1008 |
A |
C |
13: 62,753,029 (GRCm39) |
V99G |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,714 (GRCm39) |
V924A |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp235 |
T |
C |
7: 23,841,644 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfp39 |
C |
T |
11: 58,780,813 (GRCm39) |
V650I |
probably benign |
Het |
| Zfp82 |
A |
T |
7: 29,756,265 (GRCm39) |
N272K |
probably damaging |
Het |
| Zfyve21 |
A |
C |
12: 111,789,698 (GRCm39) |
D54A |
possibly damaging |
Het |
| Zfyve26 |
C |
T |
12: 79,291,258 (GRCm39) |
D2116N |
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 |
|
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 |
|
|
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'- gactatgcagtgagacccc -3'
(R):5'- TAACAGCCTGCATCAGCCG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation