Incidental Mutation 'R2129:Ubr1'
| ID |
227805 |
| 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 |
040132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R2129 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120773034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 402
(E402G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028728
AA Change: E402G
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: E402G
| 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
|
| Meta Mutation Damage Score |
0.1411 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (91/92) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,066,066 (GRCm39) |
E249G |
possibly damaging |
Het |
| 2610028H24Rik |
A |
G |
10: 76,293,349 (GRCm39) |
M136V |
possibly damaging |
Het |
| 4930523C07Rik |
A |
T |
1: 159,902,945 (GRCm39) |
K72* |
probably null |
Het |
| Abhd14a |
A |
T |
9: 106,318,064 (GRCm39) |
L125Q |
probably null |
Het |
| Abhd17b |
T |
A |
19: 21,658,413 (GRCm39) |
|
probably null |
Het |
| Abo |
G |
A |
2: 26,736,586 (GRCm39) |
T61I |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,815,799 (GRCm39) |
T686A |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
| Anxa2 |
A |
T |
9: 69,383,410 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Aqp3 |
T |
A |
4: 41,098,061 (GRCm39) |
I17F |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,385,373 (GRCm39) |
V339A |
probably benign |
Het |
| Bri3bp |
T |
A |
5: 125,528,735 (GRCm39) |
L48* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,275,605 (GRCm39) |
C185S |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,640,142 (GRCm39) |
Y399H |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chst10 |
A |
G |
1: 38,904,776 (GRCm39) |
Y203H |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,722,526 (GRCm39) |
D282G |
probably damaging |
Het |
| Coq3 |
T |
G |
4: 21,900,342 (GRCm39) |
S190A |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
| Cygb |
A |
G |
11: 116,540,668 (GRCm39) |
L106P |
probably damaging |
Het |
| Dab2 |
G |
T |
15: 6,365,864 (GRCm39) |
E87* |
probably null |
Het |
| Dcst1 |
T |
A |
3: 89,264,852 (GRCm39) |
I299F |
probably damaging |
Het |
| Dennd4a |
T |
G |
9: 64,813,256 (GRCm39) |
|
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,518 (GRCm39) |
S168P |
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,688,290 (GRCm39) |
T429I |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,408,467 (GRCm39) |
Q3484R |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,618,242 (GRCm39) |
M125V |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,175,289 (GRCm39) |
S107P |
possibly damaging |
Het |
| Emb |
T |
C |
13: 117,404,082 (GRCm39) |
V278A |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,794,026 (GRCm39) |
Y518C |
probably damaging |
Het |
| Foxk1 |
C |
A |
5: 142,420,943 (GRCm39) |
S189* |
probably null |
Het |
| Galm |
T |
C |
17: 80,490,647 (GRCm39) |
I268T |
probably benign |
Het |
| Gm5581 |
A |
C |
6: 131,145,247 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
G |
A |
10: 40,947,168 (GRCm39) |
S138L |
possibly damaging |
Het |
| Hesx1 |
C |
A |
14: 26,722,802 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,531,570 (GRCm39) |
D421G |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,111,804 (GRCm39) |
T31A |
probably damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Krtap19-3 |
T |
C |
16: 88,674,863 (GRCm39) |
|
probably benign |
Het |
| Lin28a |
T |
A |
4: 133,745,465 (GRCm39) |
I43F |
probably benign |
Het |
| Lrriq1 |
G |
A |
10: 103,050,718 (GRCm39) |
T678I |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,262,608 (GRCm39) |
|
probably benign |
Het |
| Madcam1 |
A |
G |
10: 79,501,406 (GRCm39) |
E157G |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,030,140 (GRCm39) |
L425P |
probably damaging |
Het |
| Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
| Mybpc1 |
T |
G |
10: 88,387,314 (GRCm39) |
T466P |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,781,885 (GRCm39) |
Y1127H |
probably benign |
Het |
| Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,786,343 (GRCm39) |
Y670H |
probably damaging |
Het |
| Ndufaf4 |
G |
T |
4: 24,898,608 (GRCm39) |
D55Y |
probably damaging |
Het |
| Neurod2 |
G |
T |
11: 98,218,414 (GRCm39) |
A250E |
possibly damaging |
Het |
| Nherf1 |
A |
T |
11: 115,067,270 (GRCm39) |
I174F |
probably damaging |
Het |
| Nipsnap1 |
C |
A |
11: 4,838,932 (GRCm39) |
N119K |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
| Or10ab4 |
T |
A |
7: 107,655,111 (GRCm39) |
N307K |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,948,093 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,437 (GRCm39) |
D125G |
probably damaging |
Het |
| Pald1 |
A |
G |
10: 61,184,085 (GRCm39) |
|
probably null |
Het |
| Palld |
T |
C |
8: 62,330,395 (GRCm39) |
S161G |
probably benign |
Het |
| Paqr9 |
T |
A |
9: 95,443,122 (GRCm39) |
F371I |
probably benign |
Het |
| Pear1 |
A |
T |
3: 87,665,666 (GRCm39) |
C120* |
probably null |
Het |
| Pla2g4e |
A |
T |
2: 120,013,292 (GRCm39) |
F343I |
probably damaging |
Het |
| Plxdc2 |
A |
T |
2: 16,516,902 (GRCm39) |
Y61F |
probably benign |
Het |
| Polh |
G |
A |
17: 46,499,014 (GRCm39) |
Q234* |
probably null |
Het |
| Prkce |
T |
A |
17: 86,803,463 (GRCm39) |
M454K |
possibly damaging |
Het |
| Proser1 |
C |
A |
3: 53,385,366 (GRCm39) |
T416K |
probably benign |
Het |
| Prr14l |
G |
T |
5: 32,989,172 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,527 (GRCm39) |
D90E |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,266,415 (GRCm39) |
V667D |
possibly damaging |
Het |
| Rpp40 |
A |
T |
13: 36,082,604 (GRCm39) |
C256* |
probably null |
Het |
| Rps6ka5 |
A |
G |
12: 100,644,797 (GRCm39) |
L51P |
probably damaging |
Het |
| Rtp2 |
C |
T |
16: 23,746,457 (GRCm39) |
C78Y |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,508,715 (GRCm39) |
|
probably benign |
Het |
| Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
| Slc6a21 |
T |
G |
7: 44,932,197 (GRCm39) |
|
probably null |
Het |
| Smo |
A |
G |
6: 29,757,313 (GRCm39) |
Y476C |
probably damaging |
Het |
| Tacr3 |
A |
T |
3: 134,560,621 (GRCm39) |
T187S |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,890,164 (GRCm39) |
K71E |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,566,743 (GRCm39) |
I1264V |
probably benign |
Het |
| Tmem41a |
T |
C |
16: 21,764,911 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,793,105 (GRCm39) |
N459D |
probably benign |
Het |
| Ube2k |
A |
G |
5: 65,752,269 (GRCm39) |
T151A |
probably damaging |
Het |
| Ulk4 |
T |
A |
9: 120,981,248 (GRCm39) |
I897F |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,649,917 (GRCm39) |
F431S |
probably damaging |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,782 (GRCm39) |
S142G |
probably benign |
Het |
| Wdr17 |
C |
T |
8: 55,085,416 (GRCm39) |
V1236M |
probably damaging |
Het |
| Zbtb32 |
T |
C |
7: 30,290,918 (GRCm39) |
K126E |
possibly damaging |
Het |
| Zeb1 |
A |
T |
18: 5,767,681 (GRCm39) |
S731C |
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 |
|
|
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'- GGTACCACTAGAGTTACTACCCAG -3'
(R):5'- TCAAGTCGTTGAATTCATGTGC -3'
Sequencing Primer
(F):5'- CTACCCAGGTAGATACCACTA -3'
(R):5'- CAAGTCGTTGAATTCATGTGCTAGTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation