Incidental Mutation 'IGL03229:Ubr7'
| ID |
413828 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubr7
|
| Ensembl Gene |
ENSMUSG00000041712 |
| Gene Name |
ubiquitin protein ligase E3 component n-recognin 7 (putative) |
| Synonyms |
5730410I19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
IGL03229
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
102724234-102743960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102735414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 291
(L291P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046404]
|
| AlphaFold |
Q8BU04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046404
AA Change: L291P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: L291P
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,990,936 (GRCm39) |
I832T |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,455,108 (GRCm39) |
S124P |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,704 (GRCm39) |
T238A |
probably benign |
Het |
| Coq4 |
A |
G |
2: 29,678,497 (GRCm39) |
D41G |
probably benign |
Het |
| Cpb1 |
A |
T |
3: 20,304,001 (GRCm39) |
Y354* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,105,719 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,311,456 (GRCm39) |
R1755H |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,863,605 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
T |
C |
10: 110,590,207 (GRCm39) |
V120A |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,808,420 (GRCm39) |
I1580F |
possibly damaging |
Het |
| Gm9755 |
C |
A |
8: 67,967,324 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
T |
G |
10: 51,492,699 (GRCm39) |
N480T |
probably damaging |
Het |
| H2ac20 |
C |
T |
3: 96,127,953 (GRCm39) |
A70T |
probably damaging |
Het |
| H2-T9 |
C |
T |
17: 36,438,614 (GRCm39) |
G259E |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,357,909 (GRCm39) |
I331V |
probably benign |
Het |
| Heatr6 |
G |
T |
11: 83,672,271 (GRCm39) |
G1093V |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,193,366 (GRCm39) |
E162G |
probably damaging |
Het |
| Nckipsd |
T |
C |
9: 108,688,813 (GRCm39) |
V116A |
probably benign |
Het |
| Nek10 |
A |
G |
14: 14,986,686 (GRCm38) |
H997R |
probably benign |
Het |
| Nxph1 |
A |
G |
6: 9,247,830 (GRCm39) |
Y267C |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,265,286 (GRCm39) |
D189G |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,360 (GRCm39) |
C241S |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,656,686 (GRCm39) |
V829E |
probably damaging |
Het |
| Prkcz |
A |
C |
4: 155,346,963 (GRCm39) |
S573A |
probably benign |
Het |
| Prl2c1 |
T |
A |
13: 28,040,612 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,015,925 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,057 (GRCm39) |
I1253F |
probably damaging |
Het |
| Tarm1 |
A |
G |
7: 3,545,413 (GRCm39) |
C146R |
probably damaging |
Het |
| Tor2a |
A |
T |
2: 32,649,704 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc9 |
A |
T |
15: 72,930,305 (GRCm39) |
L17Q |
probably damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,385 (GRCm39) |
L53Q |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,100,798 (GRCm39) |
V1878A |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,064,437 (GRCm39) |
|
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 53,013,811 (GRCm39) |
H42R |
probably benign |
Het |
| Zfp750 |
G |
A |
11: 121,403,778 (GRCm39) |
H366Y |
possibly damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,739,601 (GRCm39) |
C462R |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation