Incidental Mutation 'R8256:Ubr7'
| ID |
640564 |
| 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 |
067682-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R8256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102724234-102743960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102736170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 364
(M364K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046404]
|
| AlphaFold |
Q8BU04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046404
AA Change: M364K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: M364K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,958,287 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
A |
T |
9: 54,525,345 (GRCm39) |
M402K |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,683,583 (GRCm39) |
V955A |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,880 (GRCm39) |
E1083K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,901,921 (GRCm39) |
A484T |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,727,679 (GRCm39) |
D320E |
probably damaging |
Het |
| Arf4 |
T |
C |
14: 26,377,126 (GRCm39) |
S178P |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,163,563 (GRCm39) |
T179I |
possibly damaging |
Het |
| Atp13a2 |
A |
C |
4: 140,722,922 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,158,236 (GRCm39) |
T1105A |
unknown |
Het |
| Bltp2 |
T |
A |
11: 78,167,979 (GRCm39) |
D1471E |
probably benign |
Het |
| Ccdc68 |
G |
T |
18: 70,072,018 (GRCm39) |
E32* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,129 (GRCm39) |
V363A |
unknown |
Het |
| Cmya5 |
C |
T |
13: 93,229,986 (GRCm39) |
E1701K |
possibly damaging |
Het |
| Def8 |
T |
C |
8: 124,186,368 (GRCm39) |
F369S |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,631,588 (GRCm39) |
P394S |
possibly damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,864,008 (GRCm39) |
R88G |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,951,667 (GRCm39) |
|
probably null |
Het |
| Hira |
A |
G |
16: 18,744,443 (GRCm39) |
T387A |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,590,879 (GRCm39) |
T12A |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,370,950 (GRCm39) |
A89V |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,965,007 (GRCm39) |
Y305F |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,622,236 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,393,169 (GRCm39) |
D1116N |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,561,833 (GRCm39) |
C277R |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,904,522 (GRCm39) |
D204G |
probably damaging |
Het |
| Ncf2 |
G |
A |
1: 152,692,851 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
G |
17: 38,586,411 (GRCm39) |
L250V |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,609,041 (GRCm39) |
L138P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,255 (GRCm39) |
R172G |
probably benign |
Het |
| Ptk6 |
T |
A |
2: 180,837,633 (GRCm39) |
K429* |
probably null |
Het |
| Rasgrp4 |
T |
C |
7: 28,842,500 (GRCm39) |
V258A |
probably damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,265,602 (GRCm39) |
L396S |
probably benign |
Het |
| Samd8 |
A |
T |
14: 21,833,745 (GRCm39) |
|
probably null |
Het |
| Spock1 |
T |
A |
13: 57,588,257 (GRCm39) |
I269F |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,435,006 (GRCm39) |
D683G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,199,579 (GRCm39) |
D455G |
possibly damaging |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,528 (GRCm39) |
V149A |
probably benign |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 81,884,193 (GRCm39) |
N20S |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,359 (GRCm39) |
K629R |
probably benign |
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 |
|
|
R6543:Ubr7
|
UTSW |
12 |
102,734,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
R8334:Ubr7
|
UTSW |
12 |
102,724,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGTGGAAGTTGGAAGATTTC -3'
(R):5'- TCATGCTGAGGGCTTCTTTC -3'
Sequencing Primer
(F):5'- TGACATTCTAAATGGGGGAACTG -3'
(R):5'- TGCTGGGATTAAAGTATGCACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation