Incidental Mutation 'R5867:Ubr7'
ID |
454238 |
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 |
043233-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R5867 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
102724234-102743960 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102727753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 92
(Y92N)
|
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: Y92N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041247 Gene: ENSMUSG00000041712 AA Change: Y92N
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
C |
19: 8,987,416 (GRCm39) |
V2900A |
probably damaging |
Het |
Akip1 |
A |
G |
7: 109,306,684 (GRCm39) |
H127R |
probably benign |
Het |
Alad |
A |
T |
4: 62,431,203 (GRCm39) |
Y56N |
probably damaging |
Het |
Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
Ap1g1 |
C |
T |
8: 110,545,614 (GRCm39) |
A89V |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Cd209b |
T |
C |
8: 3,974,246 (GRCm39) |
I89V |
possibly damaging |
Het |
Cd36 |
T |
C |
5: 17,990,733 (GRCm39) |
K469R |
probably benign |
Het |
Cdh20 |
T |
A |
1: 109,976,581 (GRCm39) |
I82N |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,748,014 (GRCm39) |
P511H |
probably damaging |
Het |
Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
Cyp2a5 |
T |
C |
7: 26,542,383 (GRCm39) |
F462L |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,699,166 (GRCm39) |
*709Q |
probably null |
Het |
Drd1 |
T |
C |
13: 54,208,182 (GRCm39) |
T4A |
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,402,733 (GRCm39) |
V513I |
possibly damaging |
Het |
Fam43a |
T |
A |
16: 30,420,277 (GRCm39) |
V287E |
probably benign |
Het |
Gm5134 |
A |
G |
10: 75,844,450 (GRCm39) |
E602G |
probably benign |
Het |
Gtsf2 |
C |
T |
15: 103,348,063 (GRCm39) |
G149E |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Klhl6 |
T |
C |
16: 19,801,570 (GRCm39) |
T62A |
probably benign |
Het |
Lamb1 |
T |
A |
12: 31,348,954 (GRCm39) |
I662N |
possibly damaging |
Het |
Lmod3 |
A |
G |
6: 97,224,963 (GRCm39) |
V286A |
probably damaging |
Het |
Mefv |
T |
C |
16: 3,533,797 (GRCm39) |
D158G |
probably damaging |
Het |
Mff |
T |
C |
1: 82,728,327 (GRCm39) |
|
probably null |
Het |
Mfsd6l |
G |
T |
11: 68,448,036 (GRCm39) |
V296L |
possibly damaging |
Het |
Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
Or5m3b |
A |
G |
2: 85,871,795 (GRCm39) |
I45M |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,487,452 (GRCm39) |
H266L |
probably benign |
Het |
Pdrg1 |
T |
C |
2: 152,855,975 (GRCm39) |
N40D |
probably damaging |
Het |
Pi4k2a |
T |
C |
19: 42,093,924 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
T |
A |
8: 117,781,750 (GRCm39) |
D765V |
probably damaging |
Het |
Pspc1 |
A |
T |
14: 56,999,498 (GRCm39) |
|
probably null |
Het |
Ptprm |
T |
C |
17: 67,352,976 (GRCm39) |
|
probably null |
Het |
Spata31d1d |
T |
C |
13: 59,875,054 (GRCm39) |
K827R |
possibly damaging |
Het |
Srebf2 |
T |
A |
15: 82,053,987 (GRCm39) |
F46Y |
probably damaging |
Het |
Tfrc |
T |
A |
16: 32,439,230 (GRCm39) |
C365S |
possibly damaging |
Het |
Ttc7 |
A |
G |
17: 87,629,900 (GRCm39) |
H294R |
possibly damaging |
Het |
Vmn1r42 |
A |
C |
6: 89,821,761 (GRCm39) |
Y269* |
probably null |
Het |
Vmn2r1 |
A |
G |
3: 64,011,990 (GRCm39) |
E617G |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,889,904 (GRCm39) |
|
probably null |
Het |
Vps50 |
T |
C |
6: 3,536,965 (GRCm39) |
L312P |
probably damaging |
Het |
Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
Zcchc3 |
A |
G |
2: 152,256,444 (GRCm39) |
F85S |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,520,078 (GRCm39) |
L400P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCGAATAGATCTGGGGC -3'
(R):5'- AGAAGTTTGAGCCAGTCTCC -3'
Sequencing Primer
(F):5'- GCTTGAAATAGTGGTTTTGACCC -3'
(R):5'- TGAGCCAGTCTCCATAATTAAAAGGC -3'
|
Posted On |
2017-02-10 |