Incidental Mutation 'R4928:Ubr1'
| ID |
380965 |
| 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 |
042529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.833)
|
| Stock # |
R4928 (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 120745419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 890
(I890F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028728]
|
| AlphaFold |
O70481 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028728
AA Change: I890F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028728
Gene: ENSMUSG00000027272
AA Change: I890F
| 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
|
| Meta Mutation Damage Score |
0.4906 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| Validation Efficiency |
98% (123/126) |
| 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: 110 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530021J07Rik |
G |
T |
7: 82,805,086 (GRCm39) |
|
noncoding transcript |
Het |
| Aasdh |
T |
A |
5: 77,044,535 (GRCm39) |
K118N |
possibly damaging |
Het |
| Abca14 |
A |
T |
7: 119,923,803 (GRCm39) |
N1620I |
possibly damaging |
Het |
| Acap1 |
A |
T |
11: 69,776,641 (GRCm39) |
S149T |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,751,064 (GRCm39) |
Y579* |
probably null |
Het |
| Aifm3 |
T |
C |
16: 17,318,296 (GRCm39) |
|
probably benign |
Het |
| Aldh16a1 |
A |
G |
7: 44,791,385 (GRCm39) |
W107R |
probably damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,894 (GRCm39) |
H363L |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,152,957 (GRCm39) |
|
probably null |
Het |
| Arhgef6 |
A |
T |
X: 56,280,238 (GRCm39) |
D742E |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,647,644 (GRCm39) |
N731K |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,105,954 (GRCm39) |
T904A |
possibly damaging |
Het |
| Atr |
C |
T |
9: 95,789,352 (GRCm39) |
R1503W |
probably damaging |
Het |
| Cdh3 |
G |
T |
8: 107,263,242 (GRCm39) |
R97L |
probably benign |
Het |
| Chst2 |
C |
T |
9: 95,288,059 (GRCm39) |
V96I |
probably benign |
Het |
| Cit |
T |
A |
5: 116,123,856 (GRCm39) |
N1464K |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,658,897 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
G |
A |
1: 82,688,698 (GRCm39) |
|
probably benign |
Het |
| Copz1 |
T |
A |
15: 103,199,757 (GRCm39) |
S57R |
probably damaging |
Het |
| Cpped1 |
A |
T |
16: 11,646,143 (GRCm39) |
F227Y |
probably damaging |
Het |
| Cyp2j12 |
A |
T |
4: 95,990,388 (GRCm39) |
|
probably null |
Het |
| Dctn1 |
T |
A |
6: 83,166,189 (GRCm39) |
I195N |
possibly damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,742,751 (GRCm39) |
I148V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,918,259 (GRCm39) |
D4096G |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,110,837 (GRCm39) |
N145D |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,827,073 (GRCm39) |
V1020A |
probably damaging |
Het |
| Entrep2 |
G |
T |
7: 64,409,116 (GRCm39) |
S426* |
probably null |
Het |
| Ercc6l2 |
T |
C |
13: 64,042,627 (GRCm39) |
|
probably benign |
Het |
| Fads6 |
T |
G |
11: 115,187,387 (GRCm39) |
I103L |
probably benign |
Het |
| Fat4 |
T |
G |
3: 39,064,614 (GRCm39) |
Y4857D |
probably damaging |
Het |
| Fbxl14 |
T |
A |
6: 119,457,671 (GRCm39) |
L284Q |
probably damaging |
Het |
| Fkbp9 |
T |
C |
6: 56,826,655 (GRCm39) |
V85A |
possibly damaging |
Het |
| Galnt13 |
T |
A |
2: 54,406,577 (GRCm39) |
V9E |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,373 (GRCm39) |
S507R |
probably benign |
Het |
| Gm15142 |
T |
A |
X: 153,421,415 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
T |
C |
12: 81,425,612 (GRCm39) |
E182G |
probably benign |
Het |
| Gm6811 |
C |
A |
17: 21,314,893 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9791 |
A |
T |
3: 34,059,218 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxb7 |
A |
T |
11: 96,180,336 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,892,819 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
C |
T |
11: 99,265,458 (GRCm39) |
V70I |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,032,664 (GRCm39) |
S459P |
probably damaging |
Het |
| Lrfn3 |
C |
T |
7: 30,060,048 (GRCm39) |
R59H |
possibly damaging |
Het |
| Mavs |
T |
C |
2: 131,088,663 (GRCm39) |
V489A |
probably benign |
Het |
| Mcm8 |
C |
T |
2: 132,681,399 (GRCm39) |
P625L |
probably benign |
Het |
| Megf10 |
G |
T |
18: 57,373,745 (GRCm39) |
R181L |
probably benign |
Het |
| Mgrn1 |
G |
A |
16: 4,745,726 (GRCm39) |
G440D |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,700,642 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,371,639 (GRCm39) |
Y2613* |
probably null |
Het |
| Myh14 |
C |
T |
7: 44,284,926 (GRCm39) |
G662S |
probably benign |
Het |
| Myod1 |
T |
A |
7: 46,026,474 (GRCm39) |
N126K |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,242,774 (GRCm39) |
H439Q |
possibly damaging |
Het |
| Narf |
T |
A |
11: 121,135,765 (GRCm39) |
V136E |
possibly damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,983,031 (GRCm39) |
C926* |
probably null |
Het |
| Ndufv2 |
C |
A |
17: 66,399,653 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,102,987 (GRCm39) |
S449G |
possibly damaging |
Het |
| Nek10 |
C |
T |
14: 14,930,577 (GRCm38) |
P698L |
probably damaging |
Het |
| Nox3 |
T |
A |
17: 3,685,550 (GRCm39) |
E566V |
probably null |
Het |
| Oas1a |
C |
T |
5: 121,043,787 (GRCm39) |
R115H |
probably benign |
Het |
| Or10ag60 |
C |
A |
2: 87,438,487 (GRCm39) |
L252I |
probably benign |
Het |
| Or51b6 |
A |
G |
7: 103,555,879 (GRCm39) |
T78A |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,698,574 (GRCm39) |
M80V |
probably benign |
Het |
| Or8k30 |
T |
A |
2: 86,339,469 (GRCm39) |
L222H |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,778 (GRCm39) |
H142R |
probably damaging |
Het |
| Pcdha4 |
C |
T |
18: 37,087,869 (GRCm39) |
T684M |
probably benign |
Het |
| Phc3 |
G |
T |
3: 31,005,068 (GRCm39) |
T175N |
probably damaging |
Het |
| Pigs |
G |
T |
11: 78,219,828 (GRCm39) |
V68L |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,913,528 (GRCm39) |
D857E |
possibly damaging |
Het |
| Pitpnm3 |
G |
A |
11: 71,953,998 (GRCm39) |
P550S |
probably damaging |
Het |
| Pla2g15 |
G |
A |
8: 106,889,850 (GRCm39) |
W374* |
probably null |
Het |
| Ptpn14 |
G |
A |
1: 189,554,839 (GRCm39) |
C133Y |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,336,446 (GRCm39) |
N95S |
probably benign |
Het |
| Ptrh2 |
G |
T |
11: 86,580,862 (GRCm39) |
V160F |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,655,256 (GRCm39) |
D486G |
probably damaging |
Het |
| Rev3l |
T |
G |
10: 39,699,981 (GRCm39) |
S1493A |
probably benign |
Het |
| Rgs9 |
T |
A |
11: 109,116,570 (GRCm39) |
D411V |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,669,514 (GRCm39) |
Y291N |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,849 (GRCm39) |
Y1185H |
probably damaging |
Het |
| Rpusd3 |
A |
G |
6: 113,393,167 (GRCm39) |
|
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,299,136 (GRCm39) |
I72T |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,842,758 (GRCm39) |
|
probably benign |
Het |
| Sfmbt2 |
T |
C |
2: 10,450,556 (GRCm39) |
L277P |
probably benign |
Het |
| Sgf29 |
A |
G |
7: 126,264,154 (GRCm39) |
E73G |
probably damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,183,306 (GRCm39) |
F764L |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,640,340 (GRCm39) |
|
probably null |
Het |
| Slc9a3 |
T |
G |
13: 74,305,838 (GRCm39) |
V285G |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,395,772 (GRCm39) |
T608A |
probably benign |
Het |
| Slfnl1 |
C |
T |
4: 120,392,882 (GRCm39) |
R325C |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,051,898 (GRCm39) |
F344I |
probably benign |
Het |
| Snrnp70 |
A |
T |
7: 45,026,705 (GRCm39) |
|
probably null |
Het |
| Sod2 |
C |
T |
17: 13,227,073 (GRCm39) |
T9M |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,205,199 (GRCm39) |
S633T |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,018,622 (GRCm39) |
I531L |
probably benign |
Het |
| Stra8 |
A |
G |
6: 34,910,091 (GRCm39) |
E60G |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,845,482 (GRCm39) |
I126F |
probably benign |
Het |
| Syt1 |
T |
C |
10: 108,340,373 (GRCm39) |
H315R |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,758,588 (GRCm39) |
L783P |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,899,162 (GRCm39) |
C646Y |
probably damaging |
Het |
| Ticam2 |
T |
A |
18: 46,693,989 (GRCm39) |
K33* |
probably null |
Het |
| Trim17 |
T |
C |
11: 58,845,127 (GRCm39) |
|
probably benign |
Het |
| Tsr1 |
G |
A |
11: 74,798,705 (GRCm39) |
M691I |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,592,763 (GRCm39) |
I20790F |
probably damaging |
Het |
| Tubb2b |
A |
T |
13: 34,312,168 (GRCm39) |
Y208* |
probably null |
Het |
| Usp54 |
T |
C |
14: 20,612,260 (GRCm39) |
E852G |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,603,835 (GRCm39) |
V671A |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,470,475 (GRCm39) |
K315E |
probably benign |
Het |
| Xrn2 |
T |
C |
2: 146,893,638 (GRCm39) |
V735A |
possibly damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,347,973 (GRCm39) |
D2117E |
possibly damaging |
Het |
| Zfp287 |
A |
T |
11: 62,604,962 (GRCm39) |
C648* |
probably null |
Het |
| Zfp369 |
A |
G |
13: 65,444,614 (GRCm39) |
T586A |
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 |
|
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 |
|
|
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'- ATGGAAGAAACTTGGGCCAC -3'
(R):5'- CCCTTGACATTGATGTTTTCAGTGC -3'
Sequencing Primer
(F):5'- GGGCCACAGATAAACTACTTTAATG -3'
(R):5'- ACATTGATGTTTTCAGTGCTTTGAAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation