Incidental Mutation 'R6994:Ubr1'
| ID |
544020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubr1
|
| Ensembl Gene |
ENSMUSG00000027272 |
| Gene Name |
ubiquitin protein ligase E3 component n-recognin 1 |
| Synonyms |
E3 alpha |
| MMRRC Submission |
045100-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R6994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120794074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 37
(T37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028728
AA Change: T37A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: T37A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_UBR1
|
97 |
167 |
1.24e-35 |
SMART |
|
Pfam:ClpS
|
221 |
301 |
8e-24 |
PFAM |
|
low complexity region
|
918 |
936 |
N/A |
INTRINSIC |
|
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
|
Blast:RING
|
1101 |
1203 |
4e-34 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (82/85) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have 20% lower body weight and reduced muscle and adipose tissue. Skeletal muscle lacks a mechanism for targeting proteins for rapid catabolism. Aberrant regulation of fatty acid synthase upon starvation is also observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
G |
4: 144,349,849 (GRCm39) |
W369G |
probably damaging |
Het |
| Abhd16b |
C |
T |
2: 181,135,461 (GRCm39) |
T121M |
possibly damaging |
Het |
| Adam5 |
A |
T |
8: 25,276,262 (GRCm39) |
C468* |
probably null |
Het |
| Aim2 |
C |
T |
1: 173,283,152 (GRCm39) |
A78V |
possibly damaging |
Het |
| Alg9 |
G |
A |
9: 50,703,422 (GRCm39) |
W254* |
probably null |
Het |
| Ankrd55 |
G |
C |
13: 112,504,834 (GRCm39) |
E499Q |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,791,209 (GRCm39) |
F546S |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,100,164 (GRCm39) |
|
probably benign |
Het |
| Bves |
A |
G |
10: 45,215,514 (GRCm39) |
H63R |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,507,057 (GRCm39) |
M45V |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,664,668 (GRCm39) |
I464L |
possibly damaging |
Het |
| Cmklr1 |
T |
C |
5: 113,752,983 (GRCm39) |
Y6C |
probably damaging |
Het |
| Colgalt1 |
C |
T |
8: 72,076,165 (GRCm39) |
R539C |
probably damaging |
Het |
| Ctsm |
T |
A |
13: 61,687,698 (GRCm39) |
E53D |
probably damaging |
Het |
| Cyp2a22 |
A |
G |
7: 26,638,606 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,115,411 (GRCm39) |
V641A |
probably damaging |
Het |
| Ddx6 |
T |
C |
9: 44,540,020 (GRCm39) |
V316A |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,937,799 (GRCm39) |
D767G |
probably benign |
Het |
| Dnaaf6rt |
T |
C |
1: 31,261,990 (GRCm39) |
|
probably benign |
Het |
| Dtnbp1 |
T |
A |
13: 45,155,405 (GRCm39) |
D15V |
probably damaging |
Het |
| Dtx3l |
C |
T |
16: 35,751,742 (GRCm39) |
|
probably null |
Het |
| Entpd8 |
T |
C |
2: 24,973,321 (GRCm39) |
I162T |
probably damaging |
Het |
| Fam186a |
G |
T |
15: 99,840,347 (GRCm39) |
Q1966K |
probably benign |
Het |
| Fbxo27 |
A |
C |
7: 28,392,785 (GRCm39) |
D22A |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,977,095 (GRCm39) |
I577N |
probably damaging |
Het |
| Frmd8 |
A |
T |
19: 5,923,209 (GRCm39) |
S81T |
probably damaging |
Het |
| Gm5108 |
T |
A |
5: 68,102,012 (GRCm39) |
|
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,718,271 (GRCm39) |
Y135C |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,723 (GRCm39) |
I898F |
probably benign |
Het |
| Kri1 |
C |
T |
9: 21,199,083 (GRCm39) |
|
probably benign |
Het |
| Krt32 |
T |
A |
11: 99,977,271 (GRCm39) |
I210F |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,060,820 (GRCm39) |
C716Y |
|
Het |
| Lamc2 |
G |
A |
1: 153,012,508 (GRCm39) |
T722M |
probably benign |
Het |
| Lpin3 |
C |
T |
2: 160,746,803 (GRCm39) |
P766L |
probably damaging |
Het |
| Macroh2a1 |
T |
C |
13: 56,237,643 (GRCm39) |
N206D |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,946,721 (GRCm39) |
T1169A |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,385,984 (GRCm39) |
V536M |
probably benign |
Het |
| Morc1 |
A |
T |
16: 48,438,909 (GRCm39) |
H768L |
probably benign |
Het |
| Mpped2 |
T |
A |
2: 106,529,878 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Nfatc1 |
G |
T |
18: 80,696,779 (GRCm39) |
|
probably null |
Het |
| Nfkbid |
G |
A |
7: 30,125,192 (GRCm39) |
S263N |
probably benign |
Het |
| Npas3 |
C |
A |
12: 54,115,576 (GRCm39) |
Q802K |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,119 (GRCm39) |
T242A |
probably damaging |
Het |
| Or5ac20 |
T |
G |
16: 59,104,453 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or5p67 |
T |
A |
7: 107,922,101 (GRCm39) |
I261F |
possibly damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,345 (GRCm39) |
V100L |
possibly damaging |
Het |
| Pagr1a |
A |
G |
7: 126,615,613 (GRCm39) |
|
probably null |
Het |
| Pcdh1 |
A |
T |
18: 38,331,553 (GRCm39) |
N483K |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,291,689 (GRCm39) |
P1303T |
probably damaging |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Pnkd |
T |
A |
1: 74,332,335 (GRCm39) |
|
probably null |
Het |
| Pparg |
A |
T |
6: 115,428,011 (GRCm39) |
Q166L |
probably benign |
Het |
| Psenen |
A |
G |
7: 30,262,932 (GRCm39) |
|
probably null |
Het |
| Rab4a |
T |
C |
8: 124,557,105 (GRCm39) |
S142P |
probably damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,132 (GRCm39) |
V21A |
probably benign |
Het |
| Relt |
A |
C |
7: 100,502,321 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
T |
A |
17: 50,344,019 (GRCm39) |
T90S |
possibly damaging |
Het |
| Ripor3 |
T |
G |
2: 167,839,186 (GRCm39) |
D105A |
probably damaging |
Het |
| Rnase10 |
T |
A |
14: 51,247,138 (GRCm39) |
I135N |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rttn |
A |
G |
18: 89,047,023 (GRCm39) |
E895G |
probably damaging |
Het |
| Serpina3a |
G |
A |
12: 104,079,089 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
C |
T |
1: 12,951,617 (GRCm39) |
C562Y |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,220,770 (GRCm39) |
T396A |
unknown |
Het |
| Tgfbr3 |
A |
G |
5: 107,280,892 (GRCm39) |
S623P |
probably damaging |
Het |
| Tmem8b |
A |
G |
4: 43,690,192 (GRCm39) |
I876V |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,416,669 (GRCm39) |
K221R |
probably damaging |
Het |
| Tomm40 |
G |
T |
7: 19,436,831 (GRCm39) |
D40E |
probably damaging |
Het |
| Trav6d-4 |
G |
T |
14: 52,991,048 (GRCm39) |
G28V |
probably damaging |
Het |
| Trav8d-2 |
G |
T |
14: 53,279,933 (GRCm39) |
A17S |
probably benign |
Het |
| Triml2 |
T |
C |
8: 43,643,115 (GRCm39) |
C158R |
possibly damaging |
Het |
| Trip10 |
A |
G |
17: 57,562,331 (GRCm39) |
E283G |
probably damaging |
Het |
| Tubb2b |
T |
C |
13: 34,311,518 (GRCm39) |
Y425C |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,171,403 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,173,203 (GRCm39) |
|
probably benign |
Het |
| Vcan |
A |
T |
13: 89,841,526 (GRCm39) |
D379E |
possibly damaging |
Het |
| Vmn1r44 |
T |
A |
6: 89,871,140 (GRCm39) |
H295Q |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,487,969 (GRCm39) |
S281C |
probably damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,226,876 (GRCm39) |
A321T |
possibly damaging |
Het |
| Vsig10l |
A |
T |
7: 43,114,491 (GRCm39) |
H271L |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,145,596 (GRCm39) |
H91L |
possibly damaging |
Het |
| Zfp957 |
T |
A |
14: 79,451,130 (GRCm39) |
E223V |
probably damaging |
Het |
|
| Other mutations in Ubr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00552:Ubr1
|
APN |
2 |
120,705,888 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL00570:Ubr1
|
APN |
2 |
120,771,574 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00990:Ubr1
|
APN |
2 |
120,761,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Ubr1
|
APN |
2 |
120,745,386 (GRCm39) |
missense |
probably benign |
|
|
IGL01346:Ubr1
|
APN |
2 |
120,703,603 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01368:Ubr1
|
APN |
2 |
120,771,612 (GRCm39) |
splice site |
probably benign |
|
|
IGL01539:Ubr1
|
APN |
2 |
120,756,494 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01862:Ubr1
|
APN |
2 |
120,764,823 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01965:Ubr1
|
APN |
2 |
120,705,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01984:Ubr1
|
APN |
2 |
120,751,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02184:Ubr1
|
APN |
2 |
120,730,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02208:Ubr1
|
APN |
2 |
120,776,830 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02415:Ubr1
|
APN |
2 |
120,801,084 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02517:Ubr1
|
APN |
2 |
120,694,854 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02614:Ubr1
|
APN |
2 |
120,701,460 (GRCm39) |
splice site |
probably benign |
|
|
IGL02627:Ubr1
|
APN |
2 |
120,771,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Ubr1
|
APN |
2 |
120,745,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Ubr1
|
APN |
2 |
120,771,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02939:Ubr1
|
APN |
2 |
120,711,664 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03081:Ubr1
|
APN |
2 |
120,791,637 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03310:Ubr1
|
APN |
2 |
120,694,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03370:Ubr1
|
APN |
2 |
120,725,641 (GRCm39) |
missense |
probably benign |
|
|
I1329:Ubr1
|
UTSW |
2 |
120,764,775 (GRCm39) |
splice site |
probably benign |
|
|
R0022:Ubr1
|
UTSW |
2 |
120,791,654 (GRCm39) |
splice site |
probably benign |
|
|
R0345:Ubr1
|
UTSW |
2 |
120,734,584 (GRCm39) |
splice site |
probably null |
|
|
R0373:Ubr1
|
UTSW |
2 |
120,777,138 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0393:Ubr1
|
UTSW |
2 |
120,737,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Ubr1
|
UTSW |
2 |
120,711,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0559:Ubr1
|
UTSW |
2 |
120,778,364 (GRCm39) |
nonsense |
probably null |
|
|
R0723:Ubr1
|
UTSW |
2 |
120,711,582 (GRCm39) |
nonsense |
probably null |
|
|
R1178:Ubr1
|
UTSW |
2 |
120,756,510 (GRCm39) |
nonsense |
probably null |
|
|
R1401:Ubr1
|
UTSW |
2 |
120,786,125 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1485:Ubr1
|
UTSW |
2 |
120,791,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1572:Ubr1
|
UTSW |
2 |
120,765,800 (GRCm39) |
splice site |
probably benign |
|
|
R1920:Ubr1
|
UTSW |
2 |
120,761,449 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1921:Ubr1
|
UTSW |
2 |
120,761,449 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1997:Ubr1
|
UTSW |
2 |
120,776,754 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2129:Ubr1
|
UTSW |
2 |
120,773,034 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2147:Ubr1
|
UTSW |
2 |
120,694,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Ubr1
|
UTSW |
2 |
120,756,528 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2288:Ubr1
|
UTSW |
2 |
120,739,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Ubr1
|
UTSW |
2 |
120,793,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3930:Ubr1
|
UTSW |
2 |
120,746,951 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3979:Ubr1
|
UTSW |
2 |
120,693,168 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4172:Ubr1
|
UTSW |
2 |
120,777,103 (GRCm39) |
splice site |
probably null |
|
|
R4173:Ubr1
|
UTSW |
2 |
120,777,103 (GRCm39) |
splice site |
probably null |
|
|
R4174:Ubr1
|
UTSW |
2 |
120,777,103 (GRCm39) |
splice site |
probably null |
|
|
R4241:Ubr1
|
UTSW |
2 |
120,764,867 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4366:Ubr1
|
UTSW |
2 |
120,801,084 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4371:Ubr1
|
UTSW |
2 |
120,725,547 (GRCm39) |
splice site |
probably null |
|
|
R4449:Ubr1
|
UTSW |
2 |
120,776,862 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4533:Ubr1
|
UTSW |
2 |
120,772,963 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4656:Ubr1
|
UTSW |
2 |
120,756,494 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4765:Ubr1
|
UTSW |
2 |
120,793,923 (GRCm39) |
nonsense |
probably null |
|
|
R4928:Ubr1
|
UTSW |
2 |
120,745,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4987:Ubr1
|
UTSW |
2 |
120,794,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5033:Ubr1
|
UTSW |
2 |
120,742,478 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5108:Ubr1
|
UTSW |
2 |
120,793,903 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5118:Ubr1
|
UTSW |
2 |
120,712,745 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5211:Ubr1
|
UTSW |
2 |
120,723,651 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5215:Ubr1
|
UTSW |
2 |
120,734,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5449:Ubr1
|
UTSW |
2 |
120,793,981 (GRCm39) |
missense |
probably benign |
|
|
R5452:Ubr1
|
UTSW |
2 |
120,698,783 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5582:Ubr1
|
UTSW |
2 |
120,745,888 (GRCm39) |
missense |
probably benign |
|
|
R5610:Ubr1
|
UTSW |
2 |
120,722,593 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5637:Ubr1
|
UTSW |
2 |
120,793,998 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5808:Ubr1
|
UTSW |
2 |
120,791,573 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5845:Ubr1
|
UTSW |
2 |
120,734,486 (GRCm39) |
missense |
probably benign |
|
|
R5979:Ubr1
|
UTSW |
2 |
120,776,863 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6044:Ubr1
|
UTSW |
2 |
120,693,202 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6146:Ubr1
|
UTSW |
2 |
120,723,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6252:Ubr1
|
UTSW |
2 |
120,737,376 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6389:Ubr1
|
UTSW |
2 |
120,711,520 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6600:Ubr1
|
UTSW |
2 |
120,745,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6670:Ubr1
|
UTSW |
2 |
120,754,611 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6731:Ubr1
|
UTSW |
2 |
120,786,121 (GRCm39) |
missense |
probably null |
0.99 |
|
R6836:Ubr1
|
UTSW |
2 |
120,727,156 (GRCm39) |
splice site |
probably null |
|
|
R7121:Ubr1
|
UTSW |
2 |
120,705,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7204:Ubr1
|
UTSW |
2 |
120,734,558 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7209:Ubr1
|
UTSW |
2 |
120,693,246 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7434:Ubr1
|
UTSW |
2 |
120,693,161 (GRCm39) |
missense |
probably benign |
|
|
R7457:Ubr1
|
UTSW |
2 |
120,748,309 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7464:Ubr1
|
UTSW |
2 |
120,720,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7519:Ubr1
|
UTSW |
2 |
120,705,925 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7574:Ubr1
|
UTSW |
2 |
120,703,672 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8030:Ubr1
|
UTSW |
2 |
120,764,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8085:Ubr1
|
UTSW |
2 |
120,764,898 (GRCm39) |
nonsense |
probably null |
|
|
R8221:Ubr1
|
UTSW |
2 |
120,791,585 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8241:Ubr1
|
UTSW |
2 |
120,793,937 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8291:Ubr1
|
UTSW |
2 |
120,741,596 (GRCm39) |
missense |
probably benign |
|
|
R8293:Ubr1
|
UTSW |
2 |
120,693,202 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8420:Ubr1
|
UTSW |
2 |
120,701,476 (GRCm39) |
missense |
probably benign |
|
|
R8489:Ubr1
|
UTSW |
2 |
120,711,548 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8708:Ubr1
|
UTSW |
2 |
120,696,964 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8856:Ubr1
|
UTSW |
2 |
120,734,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Ubr1
|
UTSW |
2 |
120,697,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9153:Ubr1
|
UTSW |
2 |
120,756,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9155:Ubr1
|
UTSW |
2 |
120,754,615 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9156:Ubr1
|
UTSW |
2 |
120,703,603 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9194:Ubr1
|
UTSW |
2 |
120,778,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Ubr1
|
UTSW |
2 |
120,727,000 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9401:Ubr1
|
UTSW |
2 |
120,765,765 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9430:Ubr1
|
UTSW |
2 |
120,734,506 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9515:Ubr1
|
UTSW |
2 |
120,703,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Ubr1
|
UTSW |
2 |
120,764,820 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9703:Ubr1
|
UTSW |
2 |
120,732,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACGCTCCACTGTGTTTTAATTTC -3'
(R):5'- TTCCTGTTGCAAGTGGAAGAG -3'
Sequencing Primer
(F):5'- TTCTCTAAGCAAATATCCGGATCC -3'
(R):5'- GAAAAGTCTGATTGCCATCT -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation