Incidental Mutation 'R5979:Ubr1'
| ID |
481289 |
| 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 |
044161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R5979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120776863 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 293
(V293I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028728
AA Change: V293I
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: V293I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133408
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (87/87) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,364,029 (GRCm39) |
I103V |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,167,383 (GRCm39) |
N36S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,009,528 (GRCm39) |
V45A |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,681,860 (GRCm39) |
L69* |
probably null |
Het |
| Alkbh5 |
T |
A |
11: 60,429,517 (GRCm39) |
I90N |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,858,120 (GRCm39) |
Y193C |
probably damaging |
Het |
| Ankrd11 |
T |
G |
8: 123,619,139 (GRCm39) |
D1571A |
probably damaging |
Het |
| Brd4 |
T |
C |
17: 32,417,700 (GRCm39) |
D124G |
probably benign |
Het |
| C2cd2 |
G |
A |
16: 97,676,418 (GRCm39) |
T443I |
probably benign |
Het |
| Casp8 |
A |
T |
1: 58,868,071 (GRCm39) |
M171L |
probably benign |
Het |
| Cd200r4 |
G |
A |
16: 44,653,295 (GRCm39) |
V22I |
probably benign |
Het |
| Cdcp2 |
A |
G |
4: 106,962,478 (GRCm39) |
Y217C |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,046,409 (GRCm39) |
V556F |
possibly damaging |
Het |
| Chka |
T |
G |
19: 3,934,513 (GRCm39) |
I182M |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,755,193 (GRCm39) |
|
probably null |
Het |
| Coq10b |
T |
C |
1: 55,092,077 (GRCm39) |
V15A |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,270,710 (GRCm39) |
S309T |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,766,232 (GRCm39) |
H992L |
possibly damaging |
Het |
| Dctn3 |
T |
C |
4: 41,715,393 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
G |
T |
2: 158,684,789 (GRCm39) |
R536L |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 31,034,638 (GRCm39) |
E4186* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,725,307 (GRCm39) |
L4282P |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,312,012 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,199,453 (GRCm39) |
|
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 22,101,887 (GRCm39) |
V214L |
probably benign |
Het |
| Fam131b |
T |
C |
6: 42,298,905 (GRCm39) |
D25G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,089 (GRCm39) |
I283F |
probably damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,254,931 (GRCm39) |
N205K |
possibly damaging |
Het |
| Got1l1 |
C |
T |
8: 27,687,951 (GRCm39) |
|
probably null |
Het |
| Gprin1 |
G |
A |
13: 54,887,791 (GRCm39) |
A161V |
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,476,149 (GRCm39) |
F183I |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,156,279 (GRCm39) |
T82A |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,243,894 (GRCm39) |
E147K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,519,740 (GRCm39) |
A1700T |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,841 (GRCm39) |
V514A |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 27,111,728 (GRCm39) |
D764G |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,773,900 (GRCm39) |
R358H |
probably damaging |
Het |
| Limd1 |
G |
T |
9: 123,308,479 (GRCm39) |
Q59H |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,657,148 (GRCm39) |
Y1814C |
possibly damaging |
Het |
| Lysmd3 |
G |
A |
13: 81,813,393 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
T |
C |
4: 106,578,123 (GRCm39) |
N185S |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,283,493 (GRCm39) |
|
probably null |
Het |
| Muc2 |
G |
A |
7: 141,305,143 (GRCm39) |
G149D |
probably damaging |
Het |
| Nlrp3 |
T |
C |
11: 59,439,797 (GRCm39) |
F458S |
probably benign |
Het |
| Nop58 |
A |
T |
1: 59,741,990 (GRCm39) |
D173V |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,631 (GRCm39) |
R175H |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,307,862 (GRCm39) |
N322S |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,467 (GRCm39) |
S240P |
probably damaging |
Het |
| Or10a5 |
G |
A |
7: 106,635,543 (GRCm39) |
M60I |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,616,083 (GRCm39) |
K90E |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,666 (GRCm39) |
H242R |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,393,595 (GRCm39) |
T177I |
possibly damaging |
Het |
| Parn |
A |
C |
16: 13,424,035 (GRCm39) |
L454R |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,044 (GRCm39) |
L730Q |
possibly damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,827 (GRCm39) |
F1377L |
probably damaging |
Het |
| Pign |
G |
T |
1: 105,516,999 (GRCm39) |
S542R |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,202,596 (GRCm39) |
V502F |
probably damaging |
Het |
| Psmd1 |
A |
T |
1: 86,017,775 (GRCm39) |
I529F |
possibly damaging |
Het |
| Ptafr |
A |
G |
4: 132,306,616 (GRCm39) |
E2G |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,138,960 (GRCm39) |
N380S |
probably benign |
Het |
| Rbm12 |
A |
C |
2: 155,939,679 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,433,244 (GRCm39) |
Y174H |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,632 (GRCm39) |
S457P |
probably damaging |
Het |
| Sall4 |
A |
T |
2: 168,592,263 (GRCm39) |
S964T |
probably benign |
Het |
| Sart1 |
T |
A |
19: 5,431,251 (GRCm39) |
I681F |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,644 (GRCm39) |
L49P |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,036 (GRCm39) |
V154A |
probably benign |
Het |
| Skic2 |
A |
T |
17: 35,060,439 (GRCm39) |
N851K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,358,334 (GRCm39) |
V136I |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,440,627 (GRCm39) |
T1747I |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,283,339 (GRCm39) |
D339E |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,911,060 (GRCm39) |
L195P |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,843 (GRCm39) |
G414W |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
| Tmem39a |
A |
T |
16: 38,396,106 (GRCm39) |
N113I |
probably damaging |
Het |
| Trim14 |
C |
T |
4: 46,507,239 (GRCm39) |
V326M |
probably damaging |
Het |
| Trim58 |
A |
G |
11: 58,536,909 (GRCm39) |
E234G |
probably damaging |
Het |
| Ttr |
T |
C |
18: 20,803,059 (GRCm39) |
L75P |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,990 (GRCm39) |
V303E |
probably benign |
Het |
| Vmn2r30 |
A |
C |
7: 7,315,334 (GRCm39) |
I833S |
probably damaging |
Het |
| Zfp131 |
G |
T |
13: 120,237,982 (GRCm39) |
N125K |
probably benign |
Het |
| Zfp169 |
A |
T |
13: 48,644,516 (GRCm39) |
|
probably benign |
Het |
| Zfp213 |
C |
A |
17: 23,776,885 (GRCm39) |
E386* |
probably null |
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 |
|
|
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 |
|
|
R6994:Ubr1
|
UTSW |
2 |
120,794,074 (GRCm39) |
missense |
probably benign |
|
|
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'- GCAGGCCTGGCAAAATATCTG -3'
(R):5'- TTTCTAGGAGCCTAAGTAGAAAAGCC -3'
Sequencing Primer
(F):5'- GGCCTGGCAAAATATCTGTCTAAAG -3'
(R):5'- AAAGCCAAGTGAGGTTATTGTTGCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation