Incidental Mutation 'R1997:Ubr1'
| ID |
224286 |
| 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 |
040007-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R1997 (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 120776754 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: ENSMUST00000133408
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.2%
|
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,382,005 (GRCm39) |
F1320S |
possibly damaging |
Het |
| Aaas |
C |
T |
15: 102,248,494 (GRCm39) |
V241I |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,504,700 (GRCm39) |
I1233T |
probably benign |
Het |
| Acin1 |
T |
C |
14: 54,884,156 (GRCm39) |
|
probably null |
Het |
| Acly |
A |
T |
11: 100,409,977 (GRCm39) |
I185N |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,386 (GRCm39) |
D897G |
probably benign |
Het |
| Allc |
A |
C |
12: 28,613,482 (GRCm39) |
D153E |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,291,879 (GRCm39) |
S1185P |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,363 (GRCm39) |
Q536L |
probably damaging |
Het |
| Ap1g2 |
T |
C |
14: 55,339,835 (GRCm39) |
E448G |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,270 (GRCm39) |
V50D |
probably benign |
Het |
| Bace2 |
A |
T |
16: 97,216,289 (GRCm39) |
D294V |
possibly damaging |
Het |
| Camsap2 |
T |
C |
1: 136,199,283 (GRCm39) |
K708E |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,678,175 (GRCm39) |
R358C |
probably damaging |
Het |
| Ccdc81 |
A |
T |
7: 89,547,271 (GRCm39) |
V39E |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 109,976,668 (GRCm39) |
D111V |
probably damaging |
Het |
| Cercam |
C |
A |
2: 29,762,935 (GRCm39) |
T223K |
probably benign |
Het |
| Cimip2a |
T |
G |
2: 25,110,217 (GRCm39) |
L43R |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,710,848 (GRCm39) |
H76R |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
| Csrnp3 |
A |
T |
2: 65,779,446 (GRCm39) |
N41Y |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,857,038 (GRCm39) |
|
probably null |
Het |
| Dbn1 |
T |
C |
13: 55,630,254 (GRCm39) |
H38R |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,710,672 (GRCm39) |
V287A |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,755,634 (GRCm39) |
T1609A |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,059,250 (GRCm39) |
|
probably null |
Het |
| Dhcr7 |
T |
G |
7: 143,401,167 (GRCm39) |
D446E |
probably damaging |
Het |
| Dlx5 |
A |
T |
6: 6,879,680 (GRCm39) |
M129K |
possibly damaging |
Het |
| Dnah11 |
C |
G |
12: 118,046,203 (GRCm39) |
G1745A |
possibly damaging |
Het |
| Dnm3 |
T |
C |
1: 162,181,281 (GRCm39) |
T133A |
possibly damaging |
Het |
| Eif3e |
A |
G |
15: 43,129,005 (GRCm39) |
L205P |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,296,044 (GRCm39) |
|
probably null |
Het |
| Fank1 |
C |
T |
7: 133,463,954 (GRCm39) |
T50I |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,473 (GRCm39) |
T940A |
possibly damaging |
Het |
| Fkbp10 |
T |
C |
11: 100,306,841 (GRCm39) |
F78L |
probably damaging |
Het |
| Gabbr2 |
A |
C |
4: 46,787,502 (GRCm39) |
F387C |
probably damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,751,387 (GRCm39) |
L138I |
probably damaging |
Het |
| Gm2832 |
T |
A |
14: 41,002,943 (GRCm39) |
|
probably null |
Het |
| Gm5084 |
T |
A |
13: 60,360,344 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9979 |
T |
C |
13: 40,859,228 (GRCm39) |
|
noncoding transcript |
Het |
| Hepacam2 |
A |
G |
6: 3,487,241 (GRCm39) |
S39P |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,340 (GRCm39) |
N57Y |
probably damaging |
Het |
| Kcnh1 |
G |
A |
1: 191,959,243 (GRCm39) |
V266I |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,392,904 (GRCm39) |
T1168A |
possibly damaging |
Het |
| Kng2 |
A |
T |
16: 22,843,626 (GRCm39) |
F118I |
possibly damaging |
Het |
| Lig3 |
C |
T |
11: 82,678,492 (GRCm39) |
P245S |
probably benign |
Het |
| Loxhd1 |
G |
T |
18: 77,383,465 (GRCm39) |
W121C |
probably damaging |
Het |
| Ltn1 |
A |
G |
16: 87,178,525 (GRCm39) |
V1568A |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,473,882 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
C |
T |
2: 4,998,571 (GRCm39) |
V790M |
probably damaging |
Het |
| Mia3 |
A |
T |
1: 183,125,707 (GRCm39) |
F1223I |
possibly damaging |
Het |
| Mlec |
C |
A |
5: 115,288,405 (GRCm39) |
K150N |
probably damaging |
Het |
| Morn4 |
T |
C |
19: 42,064,977 (GRCm39) |
K70R |
possibly damaging |
Het |
| Mphosph10 |
A |
C |
7: 64,037,195 (GRCm39) |
|
probably null |
Het |
| Myocd |
G |
A |
11: 65,095,147 (GRCm39) |
Q47* |
probably null |
Het |
| Nav2 |
T |
A |
7: 49,198,219 (GRCm39) |
S1283T |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,461,266 (GRCm39) |
H1599R |
probably damaging |
Het |
| Nek10 |
G |
T |
14: 14,827,003 (GRCm38) |
G67V |
probably benign |
Het |
| Nlgn2 |
A |
C |
11: 69,718,876 (GRCm39) |
V271G |
probably damaging |
Het |
| Or1o2 |
A |
G |
17: 37,542,523 (GRCm39) |
V246A |
probably damaging |
Het |
| Or2l5 |
A |
C |
16: 19,333,792 (GRCm39) |
V198G |
probably damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,576,793 (GRCm39) |
M355L |
probably benign |
Het |
| Per2 |
T |
C |
1: 91,368,581 (GRCm39) |
E264G |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,982,384 (GRCm39) |
L113P |
unknown |
Het |
| Piwil2 |
A |
G |
14: 70,664,107 (GRCm39) |
V14A |
possibly damaging |
Het |
| Plekha6 |
G |
A |
1: 133,191,556 (GRCm39) |
A146T |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,042,971 (GRCm39) |
V1473I |
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,850,518 (GRCm39) |
L111P |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,108,979 (GRCm39) |
L533P |
probably damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,774,093 (GRCm39) |
|
probably benign |
Het |
| Ppp2r1b |
T |
A |
9: 50,778,671 (GRCm39) |
M208K |
possibly damaging |
Het |
| Prdm5 |
A |
G |
6: 65,913,072 (GRCm39) |
Y207C |
probably damaging |
Het |
| Prkar2b |
A |
G |
12: 32,013,934 (GRCm39) |
V314A |
probably damaging |
Het |
| Proser1 |
T |
A |
3: 53,386,292 (GRCm39) |
S725T |
probably benign |
Het |
| Psg20 |
A |
G |
7: 18,416,535 (GRCm39) |
F194L |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,050,496 (GRCm39) |
I2255V |
probably damaging |
Het |
| Sardh |
T |
G |
2: 27,134,409 (GRCm39) |
T36P |
probably damaging |
Het |
| Sec23a |
T |
A |
12: 59,048,793 (GRCm39) |
I110L |
probably benign |
Het |
| Slc22a29 |
T |
A |
19: 8,195,162 (GRCm39) |
I158L |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,284,984 (GRCm39) |
D210G |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,704,746 (GRCm39) |
N566S |
probably benign |
Het |
| Tcf20 |
G |
A |
15: 82,741,431 (GRCm39) |
Q7* |
probably null |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Tet2 |
G |
A |
3: 133,192,350 (GRCm39) |
Q695* |
probably null |
Het |
| Tnfaip1 |
T |
C |
11: 78,420,973 (GRCm39) |
Y29C |
probably damaging |
Het |
| Traf3 |
A |
G |
12: 111,227,095 (GRCm39) |
K328E |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,623 (GRCm39) |
E668G |
probably damaging |
Het |
| Ube2o |
T |
A |
11: 116,436,163 (GRCm39) |
E326V |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,033 (GRCm39) |
S195R |
probably damaging |
Het |
| Vmn1r213 |
T |
G |
13: 23,196,473 (GRCm39) |
V352G |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,880 (GRCm39) |
D307E |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,401,376 (GRCm39) |
C4114* |
probably null |
Het |
| Zbed6 |
A |
G |
1: 133,584,451 (GRCm39) |
L962P |
probably damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,799,305 (GRCm39) |
C37S |
probably damaging |
Het |
| Zfp628 |
G |
T |
7: 4,921,831 (GRCm39) |
G18W |
probably damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,114 (GRCm39) |
K138* |
probably null |
Het |
| Zfp867 |
A |
T |
11: 59,354,417 (GRCm39) |
V304D |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,103,027 (GRCm39) |
T102A |
possibly damaging |
Het |
| Zmym5 |
G |
A |
14: 57,035,210 (GRCm39) |
S286L |
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 |
|
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 |
|
|
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'- AGGCCTGGCAAAATATCTGTC -3'
(R):5'- TAAAGCCCAGTTGAGAGCCTG -3'
Sequencing Primer
(F):5'- GGCCTGGCAAAATATCTGTCTAAAG -3'
(R):5'- AGTTGAGAGCCTGTCCTCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation