Incidental Mutation 'R2191:Ubr1'
| ID |
238079 |
| 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 |
040193-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R2191 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120756528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 700
(S700T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028728
AA Change: S700T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: S700T
| 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: ENSMUST00000154023
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,078,865 (GRCm39) |
S716P |
possibly damaging |
Het |
| Abcb5 |
A |
C |
12: 118,831,691 (GRCm39) |
N1220K |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,676,857 (GRCm39) |
E479D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,218,576 (GRCm39) |
L736* |
probably null |
Het |
| Adcyap1 |
A |
G |
17: 93,507,454 (GRCm39) |
S5G |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,714,409 (GRCm39) |
N958S |
possibly damaging |
Het |
| Armc1 |
T |
A |
3: 19,188,225 (GRCm39) |
N274Y |
probably damaging |
Het |
| Atp9b |
G |
A |
18: 80,796,266 (GRCm39) |
R926W |
probably damaging |
Het |
| Cacna1e |
G |
T |
1: 154,319,591 (GRCm39) |
Q1370K |
probably damaging |
Het |
| Cdip1 |
C |
T |
16: 4,587,927 (GRCm39) |
S12N |
probably benign |
Het |
| Chrna3 |
T |
A |
9: 54,923,329 (GRCm39) |
I160F |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,488,054 (GRCm39) |
I534T |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,845,689 (GRCm39) |
I465F |
possibly damaging |
Het |
| Daw1 |
A |
G |
1: 83,170,384 (GRCm39) |
D232G |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,250,433 (GRCm39) |
T144A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,186 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,645,034 (GRCm39) |
S1001P |
possibly damaging |
Het |
| Dnajb9 |
T |
C |
12: 44,253,856 (GRCm39) |
T184A |
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,675 (GRCm39) |
*1061Q |
probably null |
Het |
| Dvl1 |
G |
A |
4: 155,932,273 (GRCm39) |
V28I |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,672,634 (GRCm39) |
V450D |
probably damaging |
Het |
| Ephb6 |
G |
T |
6: 41,593,019 (GRCm39) |
R419L |
possibly damaging |
Het |
| Fbxo10 |
G |
C |
4: 45,044,811 (GRCm39) |
P608R |
probably damaging |
Het |
| Flrt1 |
A |
G |
19: 7,073,194 (GRCm39) |
I451T |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,681 (GRCm39) |
V161E |
possibly damaging |
Het |
| Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,872,027 (GRCm39) |
L714F |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,723,931 (GRCm39) |
P488S |
probably damaging |
Het |
| Ints6l |
T |
A |
X: 55,550,110 (GRCm39) |
H678Q |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,704 (GRCm39) |
Q475L |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,406,959 (GRCm39) |
|
probably null |
Het |
| Khdrbs3 |
G |
T |
15: 68,964,809 (GRCm39) |
V249F |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,758,930 (GRCm39) |
|
probably null |
Het |
| Laptm4a |
T |
C |
12: 8,972,296 (GRCm39) |
|
probably null |
Het |
| Lrp2bp |
C |
T |
8: 46,466,206 (GRCm39) |
T105I |
probably benign |
Het |
| Lrrc37 |
A |
C |
11: 103,509,793 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,449,032 (GRCm39) |
W244R |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,441 (GRCm39) |
D138G |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,757,587 (GRCm39) |
I275L |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,118,720 (GRCm39) |
R719H |
probably benign |
Het |
| Omt2b |
G |
A |
9: 78,235,457 (GRCm39) |
|
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,999 (GRCm39) |
S108P |
probably benign |
Het |
| Or5h23 |
A |
T |
16: 58,906,038 (GRCm39) |
D269E |
probably benign |
Het |
| Or8g23 |
A |
T |
9: 38,971,701 (GRCm39) |
I87K |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,763,862 (GRCm39) |
L4112F |
unknown |
Het |
| Pglyrp2 |
T |
C |
17: 32,634,931 (GRCm39) |
N477S |
probably benign |
Het |
| Phf20 |
T |
C |
2: 156,118,574 (GRCm39) |
V426A |
probably benign |
Het |
| Pla2g4e |
CTT |
CTTT |
2: 120,021,680 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
A |
C |
10: 13,004,685 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,671,835 (GRCm39) |
V479A |
probably damaging |
Het |
| Prkdc |
A |
C |
16: 15,516,688 (GRCm39) |
T1021P |
probably damaging |
Het |
| Rdh7 |
C |
T |
10: 127,724,467 (GRCm39) |
V6I |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,789,095 (GRCm39) |
H237L |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,113,772 (GRCm39) |
|
probably null |
Het |
| Setd5 |
C |
T |
6: 113,088,390 (GRCm39) |
Q173* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,465 (GRCm39) |
Y918* |
probably null |
Het |
| Slc13a1 |
T |
G |
6: 24,134,396 (GRCm39) |
E162D |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,709,301 (GRCm39) |
A52T |
probably damaging |
Het |
| Srebf1 |
T |
C |
11: 60,111,365 (GRCm39) |
D2G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,864,757 (GRCm39) |
M66K |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,881,227 (GRCm39) |
N601S |
probably damaging |
Het |
| Sv2b |
C |
T |
7: 74,773,836 (GRCm39) |
G545D |
probably damaging |
Het |
| Syt5 |
G |
A |
7: 4,546,088 (GRCm39) |
Q101* |
probably null |
Het |
| Thada |
A |
G |
17: 84,753,949 (GRCm39) |
F341L |
probably benign |
Het |
| Tln2 |
T |
G |
9: 67,262,503 (GRCm39) |
I585L |
probably damaging |
Het |
| Tmem67 |
C |
G |
4: 12,069,413 (GRCm39) |
|
probably null |
Het |
| Tonsl |
G |
T |
15: 76,516,880 (GRCm39) |
L917M |
probably damaging |
Het |
| Ttk |
A |
G |
9: 83,744,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,537,478 (GRCm39) |
T34817A |
probably benign |
Het |
| Unc13b |
C |
A |
4: 43,245,566 (GRCm39) |
C1312* |
probably null |
Het |
| Usp36 |
A |
G |
11: 118,175,849 (GRCm39) |
L104P |
possibly damaging |
Het |
| Vmn1r216 |
T |
C |
13: 23,283,403 (GRCm39) |
F29L |
probably benign |
Het |
| Vmn1r225 |
T |
C |
17: 20,723,147 (GRCm39) |
I196T |
probably damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,121 (GRCm39) |
F289L |
probably benign |
Het |
| Ythdf3 |
T |
C |
3: 16,257,375 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
A |
7: 35,494,268 (GRCm39) |
K258N |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,234,442 (GRCm39) |
H156R |
possibly 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 |
|
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 |
|
|
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'- GACCCCTAGTATGATATATCTGTATGG -3'
(R):5'- TCATCATGCTTCAGGTACCG -3'
Sequencing Primer
(F):5'- CACACCAGTCTCTATTGC -3'
(R):5'- ATGCTTCAGGTACCGTTTCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation