Incidental Mutation 'R6601:Ubr7'
| ID |
525285 |
| 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 |
044725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R6601 (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 102727723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 82
(C82S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046404]
[ENSMUST00000173969]
[ENSMUST00000174651]
[ENSMUST00000179263]
[ENSMUST00000179306]
|
| AlphaFold |
Q8BU04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046404
AA Change: C82S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: C82S
| 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 |
probably benign
Transcript: ENSMUST00000173969
|
| SMART Domains |
Protein: ENSMUSP00000136425
Gene: ENSMUSG00000091931
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4611
|
3 |
96 |
7.7e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174651
|
| SMART Domains |
Protein: ENSMUSP00000133604
Gene: ENSMUSG00000041716
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4611
|
3 |
73 |
8.6e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179263
|
| SMART Domains |
Protein: ENSMUSP00000137212
Gene: ENSMUSG00000091931
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4611
|
3 |
77 |
7.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179306
|
| SMART Domains |
Protein: ENSMUSP00000136193
Gene: ENSMUSG00000098530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4611
|
3 |
77 |
1.5e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221771
|
| Meta Mutation Damage Score |
0.9680 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
G |
1: 58,102,665 (GRCm39) |
L527R |
probably damaging |
Het |
| Ccdc172 |
T |
A |
19: 58,525,723 (GRCm39) |
C194S |
possibly damaging |
Het |
| Ccnb1ip1 |
G |
T |
14: 51,031,121 (GRCm39) |
T64K |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,806,109 (GRCm39) |
E44G |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,543,421 (GRCm39) |
Y317* |
probably null |
Het |
| Csnk1a1 |
T |
C |
18: 61,711,829 (GRCm39) |
F281S |
probably damaging |
Het |
| Ddx28 |
A |
T |
8: 106,737,248 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
A |
G |
13: 45,084,721 (GRCm39) |
|
probably null |
Het |
| Eif2s1 |
T |
C |
12: 78,930,126 (GRCm39) |
I258T |
possibly damaging |
Het |
| Elp3 |
T |
C |
14: 65,784,488 (GRCm39) |
*554W |
probably null |
Het |
| Golga1 |
T |
C |
2: 38,910,118 (GRCm39) |
M610V |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,935,906 (GRCm39) |
K156N |
probably benign |
Het |
| Hcls1 |
G |
A |
16: 36,782,748 (GRCm39) |
G428D |
probably benign |
Het |
| Il16 |
T |
C |
7: 83,371,677 (GRCm39) |
D43G |
probably damaging |
Het |
| Klhl3 |
C |
A |
13: 58,242,930 (GRCm39) |
K91N |
probably damaging |
Het |
| L3mbtl1 |
C |
T |
2: 162,790,095 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,810,544 (GRCm39) |
F805L |
possibly damaging |
Het |
| Lipg |
T |
C |
18: 75,081,275 (GRCm39) |
M269V |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,148,720 (GRCm39) |
T1203I |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,548,866 (GRCm39) |
L5809Q |
probably benign |
Het |
| Naip6 |
G |
A |
13: 100,420,266 (GRCm39) |
R1335C |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,416 (GRCm39) |
H128R |
probably benign |
Het |
| Nphp4 |
A |
T |
4: 152,587,464 (GRCm39) |
|
probably null |
Het |
| Or8u8 |
T |
A |
2: 86,012,309 (GRCm39) |
I49F |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,230,673 (GRCm39) |
V148A |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,747 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
G |
19: 17,488,744 (GRCm39) |
R1025S |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,405 (GRCm39) |
D1295G |
probably benign |
Het |
| Polr1d |
T |
A |
5: 147,015,359 (GRCm39) |
L14* |
probably null |
Het |
| Rab26 |
T |
A |
17: 24,748,595 (GRCm39) |
K270* |
probably null |
Het |
| Rasgef1c |
T |
A |
11: 49,862,246 (GRCm39) |
N378K |
probably damaging |
Het |
| Rpl7a |
T |
C |
2: 26,801,536 (GRCm39) |
V76A |
probably benign |
Het |
| Samd9l |
T |
A |
6: 3,377,229 (GRCm39) |
I11F |
possibly damaging |
Het |
| Smarca2 |
C |
A |
19: 26,631,777 (GRCm39) |
Q531K |
probably benign |
Het |
| Styxl1 |
C |
G |
5: 135,784,350 (GRCm39) |
G211A |
probably benign |
Het |
| Taar9 |
T |
C |
10: 23,984,945 (GRCm39) |
Y163C |
probably damaging |
Het |
| Tmem198 |
T |
A |
1: 75,457,017 (GRCm39) |
F48I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,595,073 (GRCm39) |
N12032I |
probably damaging |
Het |
| Wwtr1 |
T |
C |
3: 57,483,159 (GRCm39) |
E48G |
possibly damaging |
Het |
| Zfp108 |
T |
C |
7: 23,960,819 (GRCm39) |
V470A |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,816,181 (GRCm39) |
Q424K |
possibly damaging |
Het |
| Zscan4-ps1 |
T |
C |
7: 10,802,761 (GRCm39) |
T13A |
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 |
|
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'- CGAATAGATCTGGGGCTTGAAATAG -3'
(R):5'- ATGAGAAGTTTGAGCCAGTCTC -3'
Sequencing Primer
(F):5'- GCTTGAAATAGTGGTTTTGACCC -3'
(R):5'- TGAGCCAGTCTCCATAATTAAAAGGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation