Incidental Mutation 'R1401:Ubr1'
| ID |
160092 |
| 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 |
039463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.826)
|
| Stock # |
R1401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120690750-120801196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120786125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 165
(D165V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028728
AA Change: D165V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: D165V
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
| Validation Efficiency |
98% (87/89) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Abcg1 |
T |
A |
17: 31,333,132 (GRCm39) |
I625N |
possibly damaging |
Het |
| Adam33 |
C |
A |
2: 130,893,391 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,528,617 (GRCm39) |
I1185N |
probably damaging |
Het |
| Afp |
A |
T |
5: 90,649,486 (GRCm39) |
|
probably benign |
Het |
| Aggf1 |
A |
G |
13: 95,501,356 (GRCm39) |
V342A |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,619,789 (GRCm39) |
S1333R |
probably benign |
Het |
| Arhgef11 |
C |
A |
3: 87,640,776 (GRCm39) |
S1311* |
probably null |
Het |
| Atp6v1g1 |
T |
C |
4: 63,466,878 (GRCm39) |
Y47H |
probably benign |
Het |
| Atp8b4 |
T |
C |
2: 126,165,013 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
G |
9: 31,770,327 (GRCm39) |
L67P |
probably damaging |
Het |
| Bbs7 |
G |
A |
3: 36,627,706 (GRCm39) |
P694S |
probably benign |
Het |
| Btbd10 |
A |
T |
7: 112,946,266 (GRCm39) |
V33E |
probably benign |
Het |
| C2 |
T |
C |
17: 35,091,457 (GRCm39) |
T69A |
possibly damaging |
Het |
| C8b |
T |
G |
4: 104,641,679 (GRCm39) |
L205R |
possibly damaging |
Het |
| Cct4 |
T |
G |
11: 22,944,333 (GRCm39) |
N72K |
probably damaging |
Het |
| Cd300lg |
C |
A |
11: 101,944,981 (GRCm39) |
P353H |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 104,875,222 (GRCm39) |
I335L |
possibly damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,738,757 (GRCm39) |
H268L |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,036,255 (GRCm39) |
D278E |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,781,359 (GRCm39) |
T482A |
possibly damaging |
Het |
| Cst13 |
T |
A |
2: 148,665,016 (GRCm39) |
F4I |
probably benign |
Het |
| Ctsc |
T |
A |
7: 87,930,706 (GRCm39) |
V95E |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,842,508 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
A |
T |
9: 54,322,712 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
C |
15: 28,402,059 (GRCm39) |
T3407P |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,735,665 (GRCm39) |
Y1344* |
probably null |
Het |
| Eif4g3 |
T |
C |
4: 137,933,395 (GRCm39) |
V1740A |
probably damaging |
Het |
| Epb41l5 |
A |
G |
1: 119,506,634 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fnbp1l |
C |
T |
3: 122,339,955 (GRCm39) |
R499Q |
probably damaging |
Het |
| Gm10033 |
T |
C |
8: 69,826,022 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12790 |
A |
G |
4: 101,825,396 (GRCm39) |
L6P |
probably benign |
Het |
| Gramd4 |
A |
G |
15: 86,009,397 (GRCm39) |
D210G |
probably damaging |
Het |
| Hectd3 |
T |
C |
4: 116,859,466 (GRCm39) |
S697P |
possibly damaging |
Het |
| Hsf4 |
T |
C |
8: 106,002,235 (GRCm39) |
V399A |
probably benign |
Het |
| Hyal6 |
T |
A |
6: 24,743,434 (GRCm39) |
C377S |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
| Mypn |
A |
G |
10: 62,988,636 (GRCm39) |
V463A |
probably damaging |
Het |
| Nav1 |
T |
A |
1: 135,388,163 (GRCm39) |
I1144L |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,942,398 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,401,657 (GRCm39) |
S30T |
probably damaging |
Het |
| Nmt1 |
T |
C |
11: 102,948,307 (GRCm39) |
F277S |
probably damaging |
Het |
| Nploc4 |
A |
C |
11: 120,274,115 (GRCm39) |
|
probably benign |
Het |
| Nup54 |
C |
A |
5: 92,576,080 (GRCm39) |
R137I |
probably damaging |
Het |
| Or52n2b |
T |
C |
7: 104,565,963 (GRCm39) |
Y180C |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pkd1l1 |
G |
T |
11: 8,804,487 (GRCm39) |
Y1701* |
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,340,072 (GRCm39) |
T763A |
probably damaging |
Het |
| Pmepa1 |
C |
T |
2: 173,070,368 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,666,518 (GRCm39) |
E408G |
possibly damaging |
Het |
| Pramel13 |
G |
A |
4: 144,121,658 (GRCm39) |
T122M |
probably benign |
Het |
| Prl8a2 |
G |
A |
13: 27,537,979 (GRCm39) |
V218I |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Shisal2b |
A |
T |
13: 105,000,113 (GRCm39) |
C37S |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,118,082 (GRCm39) |
|
probably null |
Het |
| Slc17a8 |
T |
A |
10: 89,427,076 (GRCm39) |
T342S |
probably damaging |
Het |
| Slc30a9 |
A |
G |
5: 67,510,005 (GRCm39) |
E519G |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc39a5 |
G |
A |
10: 128,233,610 (GRCm39) |
L296F |
probably damaging |
Het |
| Slco6b1 |
A |
C |
1: 96,857,610 (GRCm39) |
|
noncoding transcript |
Het |
| Slco6d1 |
G |
A |
1: 98,418,341 (GRCm39) |
G509D |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,132 (GRCm39) |
V3142A |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,050,250 (GRCm39) |
H1763Q |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,159,124 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,328 (GRCm39) |
|
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,111,106 (GRCm39) |
|
probably benign |
Het |
| Svbp |
T |
A |
4: 119,053,225 (GRCm39) |
|
probably benign |
Het |
| Tm2d1 |
A |
T |
4: 98,258,833 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
C |
A |
11: 73,130,952 (GRCm39) |
|
probably null |
Het |
| Trrap |
A |
G |
5: 144,794,232 (GRCm39) |
D3713G |
possibly damaging |
Het |
| Utrn |
C |
A |
10: 12,524,897 (GRCm39) |
M2195I |
probably benign |
Het |
| Vmn1r229 |
G |
A |
17: 21,034,904 (GRCm39) |
V50I |
possibly damaging |
Het |
| Vmn1r44 |
A |
T |
6: 89,870,632 (GRCm39) |
H126L |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,605,570 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
A |
C |
6: 124,168,591 (GRCm39) |
Y846* |
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,227,859 (GRCm39) |
S126C |
possibly damaging |
Het |
| Xylb |
T |
A |
9: 119,197,133 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
A |
T |
6: 47,867,108 (GRCm39) |
K232* |
probably null |
Het |
| Zfp39 |
C |
A |
11: 58,781,149 (GRCm39) |
V538L |
probably benign |
Het |
| Zfp560 |
T |
C |
9: 20,263,149 (GRCm39) |
N76D |
possibly damaging |
Het |
| Zmym4 |
C |
T |
4: 126,804,962 (GRCm39) |
V433I |
probably benign |
Het |
| Zscan5b |
A |
G |
7: 6,233,425 (GRCm39) |
E83G |
probably 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 |
|
|
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 |
|
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'- CACTCTGTCTCTGTCTCTCCCtttaaga -3'
(R):5'- AATACAGCCAAGAAGTGCGAGTGAAT -3'
Sequencing Primer
(F):5'- tcccgccttgatgataatagac -3'
(R):5'- GAAGTGCGAGTGAATACTTTTTATTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation