Incidental Mutation 'R6543:Ubr7'
| ID |
520964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubr7
|
| Ensembl Gene |
ENSMUSG00000041712 |
| Gene Name |
ubiquitin protein ligase E3 component n-recognin 7 (putative) |
| Synonyms |
5730410I19Rik |
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102724234-102743960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102734494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 256
(K256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046404]
|
| AlphaFold |
Q8BU04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046404
AA Change: K256R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: K256R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
|
Pfam:zf-UBR
|
45 |
113 |
2.4e-15 |
PFAM |
|
PHD
|
134 |
186 |
1.78e-1 |
SMART |
|
low complexity region
|
261 |
267 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221771
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,407,552 (GRCm39) |
P244S |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,220,825 (GRCm39) |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
| Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,784,170 (GRCm39) |
V367A |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
| Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,312,281 (GRCm39) |
Q456* |
probably null |
Het |
| Or6c3b |
C |
A |
10: 129,527,859 (GRCm39) |
G17V |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
| Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,375 (GRCm39) |
T923A |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
| Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
|
| Other mutations in Ubr7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02152:Ubr7
|
APN |
12 |
102,734,535 (GRCm39) |
nonsense |
probably null |
|
|
IGL02493:Ubr7
|
APN |
12 |
102,734,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02750:Ubr7
|
APN |
12 |
102,737,537 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03229:Ubr7
|
APN |
12 |
102,735,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dwindled
|
UTSW |
12 |
102,727,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hair
|
UTSW |
12 |
102,724,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Inch
|
UTSW |
12 |
102,732,099 (GRCm39) |
nonsense |
probably null |
|
|
R0519:Ubr7
|
UTSW |
12 |
102,734,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Ubr7
|
UTSW |
12 |
102,735,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Ubr7
|
UTSW |
12 |
102,735,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1598:Ubr7
|
UTSW |
12 |
102,736,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Ubr7
|
UTSW |
12 |
102,727,764 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4731:Ubr7
|
UTSW |
12 |
102,735,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4834:Ubr7
|
UTSW |
12 |
102,727,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Ubr7
|
UTSW |
12 |
102,741,964 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5662:Ubr7
|
UTSW |
12 |
102,734,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5845:Ubr7
|
UTSW |
12 |
102,732,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5867:Ubr7
|
UTSW |
12 |
102,727,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Ubr7
|
UTSW |
12 |
102,732,099 (GRCm39) |
nonsense |
probably null |
|
|
R6601:Ubr7
|
UTSW |
12 |
102,727,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6849:Ubr7
|
UTSW |
12 |
102,724,342 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7330:Ubr7
|
UTSW |
12 |
102,741,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7576:Ubr7
|
UTSW |
12 |
102,735,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Ubr7
|
UTSW |
12 |
102,736,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Ubr7
|
UTSW |
12 |
102,724,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGTCTTGTTGAACCCAC -3'
(R):5'- TGGGTACTAGAGAACTCAAACCC -3'
Sequencing Primer
(F):5'- CAGTCACCAGGATATCTGCTG -3'
(R):5'- GTCTATCAAGCACTTTGTGACTGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation