Incidental Mutation 'R5033:Ubr1'
ID |
389333 |
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 |
042624-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.826)
|
Stock # |
R5033 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 120742478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
AlphaFold |
O70481 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028728
|
SMART Domains |
Protein: ENSMUSP00000028728 Gene: ENSMUSG00000027272
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: ENSMUST00000129790
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
9930111J21Rik1 |
G |
A |
11: 48,838,533 (GRCm39) |
R685W |
probably damaging |
Het |
Arhgap10 |
A |
T |
8: 78,109,386 (GRCm39) |
L399H |
probably damaging |
Het |
Arih2 |
AGCCG |
AG |
9: 108,488,859 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,728,132 (GRCm39) |
H575R |
possibly damaging |
Het |
Bbof1 |
G |
A |
12: 84,458,044 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,105,838 (GRCm39) |
E788G |
probably damaging |
Het |
Catsperg2 |
A |
C |
7: 29,409,559 (GRCm39) |
Y545D |
possibly damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,580 (GRCm39) |
I248N |
probably damaging |
Het |
Cdk11b |
A |
T |
4: 155,733,282 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
C |
A |
7: 139,183,776 (GRCm39) |
L90F |
probably benign |
Het |
Cndp2 |
A |
G |
18: 84,688,954 (GRCm39) |
L276P |
possibly damaging |
Het |
Col3a1 |
A |
C |
1: 45,385,270 (GRCm39) |
D129A |
probably damaging |
Het |
Daam1 |
C |
A |
12: 71,993,294 (GRCm39) |
H354Q |
unknown |
Het |
Dnah5 |
T |
A |
15: 28,421,824 (GRCm39) |
F3892Y |
probably damaging |
Het |
Dnajb3 |
A |
G |
1: 88,132,745 (GRCm39) |
V219A |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,544 (GRCm39) |
H179R |
probably damaging |
Het |
Dym |
A |
G |
18: 75,252,232 (GRCm39) |
N333D |
possibly damaging |
Het |
Eif2b3 |
A |
G |
4: 116,909,933 (GRCm39) |
D156G |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,099,007 (GRCm39) |
D830G |
probably damaging |
Het |
F13a1 |
A |
C |
13: 37,172,830 (GRCm39) |
I183M |
probably damaging |
Het |
Fam136b-ps |
T |
A |
15: 31,277,043 (GRCm39) |
|
probably benign |
Het |
Fdft1 |
C |
A |
14: 63,400,853 (GRCm39) |
K93N |
probably damaging |
Het |
Garre1 |
C |
T |
7: 33,945,237 (GRCm39) |
G336S |
probably benign |
Het |
Gcc2 |
A |
G |
10: 58,114,628 (GRCm39) |
D959G |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,053,514 (GRCm39) |
V149A |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,784,751 (GRCm39) |
G308D |
probably damaging |
Het |
Hdac9 |
A |
T |
12: 34,423,906 (GRCm39) |
C587S |
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,050,125 (GRCm39) |
V453A |
possibly damaging |
Het |
Il1r1 |
T |
G |
1: 40,332,684 (GRCm39) |
C121W |
probably damaging |
Het |
Inhca |
A |
G |
9: 103,156,613 (GRCm39) |
V149A |
probably benign |
Het |
Jazf1 |
A |
G |
6: 52,754,525 (GRCm39) |
Y184H |
probably damaging |
Het |
Kel |
A |
T |
6: 41,675,989 (GRCm39) |
Y234N |
probably damaging |
Het |
Khk |
G |
A |
5: 31,087,004 (GRCm39) |
G186D |
probably damaging |
Het |
Klf4 |
A |
T |
4: 55,530,301 (GRCm39) |
M270K |
probably benign |
Het |
Kmt2c |
G |
A |
5: 25,519,706 (GRCm39) |
L2135F |
probably benign |
Het |
Krtap15-1 |
A |
G |
16: 88,626,044 (GRCm39) |
Y37C |
probably damaging |
Het |
Lars1 |
A |
G |
18: 42,347,841 (GRCm39) |
F994S |
possibly damaging |
Het |
Ldc1 |
C |
T |
4: 130,115,408 (GRCm39) |
|
probably null |
Het |
Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
Lrrc2 |
A |
T |
9: 110,809,987 (GRCm39) |
D341V |
probably damaging |
Het |
Map4k4 |
A |
G |
1: 40,046,662 (GRCm39) |
K646R |
probably damaging |
Het |
Mrps9 |
T |
A |
1: 42,934,491 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
T |
A |
2: 87,438,055 (GRCm39) |
C108S |
probably damaging |
Het |
Or11h6 |
T |
A |
14: 50,880,619 (GRCm39) |
Y288N |
probably damaging |
Het |
Or8c20 |
C |
T |
9: 38,260,924 (GRCm39) |
H176Y |
probably damaging |
Het |
Pcnt |
A |
T |
10: 76,235,779 (GRCm39) |
C1401S |
possibly damaging |
Het |
Pdgfrb |
A |
T |
18: 61,210,740 (GRCm39) |
K749M |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,019,412 (GRCm39) |
W969R |
probably null |
Het |
Pigr |
A |
T |
1: 130,772,436 (GRCm39) |
Y218F |
probably damaging |
Het |
Pih1d1 |
A |
G |
7: 44,804,278 (GRCm39) |
|
probably benign |
Het |
Pik3cg |
A |
T |
12: 32,249,195 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
T |
11: 68,424,294 (GRCm39) |
K300* |
probably null |
Het |
Pip5k1c |
A |
G |
10: 81,141,084 (GRCm39) |
D64G |
probably damaging |
Het |
Piwil2 |
A |
T |
14: 70,659,042 (GRCm39) |
I161K |
possibly damaging |
Het |
Pou3f1 |
A |
G |
4: 124,552,449 (GRCm39) |
E317G |
probably damaging |
Het |
Prdm8 |
C |
T |
5: 98,333,071 (GRCm39) |
Q213* |
probably null |
Het |
Prpf6 |
T |
A |
2: 181,291,899 (GRCm39) |
C739S |
possibly damaging |
Het |
Psmc3 |
T |
A |
2: 90,884,953 (GRCm39) |
S40T |
probably benign |
Het |
Psmd3 |
A |
T |
11: 98,573,650 (GRCm39) |
D32V |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rapgef6 |
A |
T |
11: 54,582,207 (GRCm39) |
H1373L |
possibly damaging |
Het |
Rnf207 |
A |
C |
4: 152,397,666 (GRCm39) |
S328A |
probably benign |
Het |
Ros1 |
C |
T |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Ryr2 |
T |
A |
13: 11,602,140 (GRCm39) |
I4581F |
possibly damaging |
Het |
Sacm1l |
C |
T |
9: 123,415,464 (GRCm39) |
R480W |
probably damaging |
Het |
Sec16a |
A |
G |
2: 26,309,661 (GRCm39) |
V664A |
probably benign |
Het |
Selenoo |
T |
A |
15: 88,976,969 (GRCm39) |
M207K |
probably damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,147,962 (GRCm39) |
|
probably null |
Het |
Slc28a2b |
T |
A |
2: 122,353,395 (GRCm39) |
|
probably null |
Het |
Slco2b1 |
G |
T |
7: 99,309,256 (GRCm39) |
Q692K |
probably benign |
Het |
Slfn4 |
A |
T |
11: 83,077,623 (GRCm39) |
D137V |
probably damaging |
Het |
Srrm2 |
G |
A |
17: 24,039,592 (GRCm39) |
A2175T |
probably damaging |
Het |
Stard9 |
T |
A |
2: 120,523,880 (GRCm39) |
C692S |
probably benign |
Het |
Sulf2 |
T |
A |
2: 165,923,542 (GRCm39) |
D559V |
probably benign |
Het |
Tbpl2 |
T |
C |
2: 23,977,170 (GRCm39) |
I283V |
probably benign |
Het |
Tmem19 |
A |
G |
10: 115,195,666 (GRCm39) |
F46S |
probably benign |
Het |
Trp63 |
T |
A |
16: 25,582,056 (GRCm39) |
Y35N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,716,786 (GRCm39) |
|
probably benign |
Het |
Ube2z |
A |
T |
11: 95,941,148 (GRCm39) |
H331Q |
probably benign |
Het |
Vmn1r235 |
A |
T |
17: 21,482,550 (GRCm39) |
I292F |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,501 (GRCm39) |
D787E |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,167,220 (GRCm39) |
V637A |
probably benign |
Het |
Xpnpep1 |
C |
A |
19: 52,994,606 (GRCm39) |
V341L |
probably benign |
Het |
Yme1l1 |
A |
G |
2: 23,084,759 (GRCm39) |
D619G |
probably damaging |
Het |
Zfp597 |
G |
A |
16: 3,684,502 (GRCm39) |
P85S |
probably damaging |
Het |
Zscan20 |
A |
G |
4: 128,479,921 (GRCm39) |
S857P |
probably benign |
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 |
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'- GCTAGGCACATAAATCATTTAAGGGC -3'
(R):5'- CCTCCTTAATTTGAAATGGGTACTC -3'
Sequencing Primer
(F):5'- TGGACTAAGCCTTTGAACCTCTAAGC -3'
(R):5'- ATAAGCTTTGTCCATGTTGGGTTATC -3'
|
Posted On |
2016-06-06 |