Incidental Mutation 'R2147:Ubr1'
| ID |
233889 |
| 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 |
040150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R2147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120694811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 1707
(D1707A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028728
AA Change: D1707A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: D1707A
| 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: ENSMUST00000124795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171483
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,903,003 (GRCm39) |
M91K |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,474 (GRCm39) |
R437G |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,167,362 (GRCm39) |
D1045E |
probably benign |
Het |
| Adam23 |
A |
T |
1: 63,573,521 (GRCm39) |
|
probably null |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Alg11 |
G |
A |
8: 22,555,309 (GRCm39) |
G108D |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,210,771 (GRCm39) |
I316N |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,408,677 (GRCm39) |
F1943L |
unknown |
Het |
| Armh4 |
T |
C |
14: 49,989,028 (GRCm39) |
D647G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,867,867 (GRCm39) |
|
probably benign |
Het |
| Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,449,288 (GRCm39) |
|
probably null |
Het |
| Cdadc1 |
A |
G |
14: 59,835,202 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
G |
10: 41,616,895 (GRCm39) |
Y131H |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,394,254 (GRCm39) |
V381A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,272,047 (GRCm39) |
R1267G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,854 (GRCm39) |
L1658Q |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
T |
A |
5: 24,797,033 (GRCm39) |
F660I |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,717,015 (GRCm39) |
D302E |
probably benign |
Het |
| Cpne3 |
T |
A |
4: 19,536,562 (GRCm39) |
M233L |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
G |
15: 73,395,336 (GRCm39) |
L143R |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,855,024 (GRCm39) |
|
probably null |
Het |
| Fbxl15 |
A |
T |
19: 46,317,627 (GRCm39) |
D103V |
probably damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,414 (GRCm39) |
|
noncoding transcript |
Het |
| Hpca |
A |
G |
4: 129,012,278 (GRCm39) |
I86T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,087,946 (GRCm39) |
A38E |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,935,159 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
T |
C |
2: 32,835,891 (GRCm39) |
K292R |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,265,598 (GRCm39) |
H316Q |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,580,063 (GRCm39) |
Y525* |
probably null |
Het |
| Mrps14 |
T |
C |
1: 160,022,862 (GRCm39) |
L9P |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,401,055 (GRCm39) |
D2992G |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,966,543 (GRCm39) |
L1327Q |
probably damaging |
Het |
| Nradd |
A |
T |
9: 110,451,243 (GRCm39) |
F42I |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,842 (GRCm39) |
I77F |
probably damaging |
Het |
| Pank1 |
T |
C |
19: 34,804,754 (GRCm39) |
H134R |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 58,286,458 (GRCm39) |
M1178K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,717,633 (GRCm39) |
I1084N |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,958,165 (GRCm39) |
K950E |
unknown |
Het |
| Pitpnc1 |
C |
T |
11: 107,103,344 (GRCm39) |
A252T |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,357 (GRCm39) |
I231V |
probably benign |
Het |
| Scin |
T |
A |
12: 40,130,984 (GRCm39) |
M310L |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,483 (GRCm39) |
I50N |
probably benign |
Het |
| Skint8 |
C |
G |
4: 111,794,274 (GRCm39) |
N221K |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,366,990 (GRCm39) |
V673M |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,929,361 (GRCm39) |
D368G |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,776,015 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,705,583 (GRCm39) |
K1005N |
possibly damaging |
Het |
| Stim2 |
T |
C |
5: 54,262,717 (GRCm39) |
Y320H |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,919,357 (GRCm39) |
D512V |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,601,701 (GRCm39) |
S216P |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,861 (GRCm39) |
I217V |
probably benign |
Het |
| Tmem45b |
A |
G |
9: 31,340,277 (GRCm39) |
V128A |
probably benign |
Het |
| Tnfaip2 |
T |
C |
12: 111,412,456 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,840,116 (GRCm39) |
I427L |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,132,139 (GRCm39) |
N1180I |
possibly damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,583 (GRCm39) |
I82M |
probably benign |
Het |
| Vmn2r129 |
T |
C |
4: 156,687,014 (GRCm39) |
|
noncoding transcript |
Het |
| Vps41 |
G |
T |
13: 19,023,904 (GRCm39) |
|
probably null |
Het |
| Wnt5a |
A |
G |
14: 28,235,274 (GRCm39) |
Y86C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,616 (GRCm39) |
H731R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,960 (GRCm39) |
E189G |
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 |
|
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'- TGTCTCACTGTCTCACCAGG -3'
(R):5'- GTTTTCATCCACGGCTGTATTG -3'
Sequencing Primer
(F):5'- TGGGCTCAGTGGTTAAGATACTAAC -3'
(R):5'- ACTGAGCATGTCTTGTCTTTAAC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation