Incidental Mutation 'R3684:Uvrag'
ID |
269466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uvrag
|
Ensembl Gene |
ENSMUSG00000035354 |
Gene Name |
UV radiation resistance associated gene |
Synonyms |
9530039D02Rik, Uvragl |
MMRRC Submission |
040682-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R3684 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
98535949-98790373 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 98637427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 341
(C341S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037968]
[ENSMUST00000208992]
|
AlphaFold |
Q8K245 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037968
AA Change: C341S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045297 Gene: ENSMUSG00000035354 AA Change: C341S
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
28 |
N/A |
INTRINSIC |
C2
|
42 |
147 |
1.43e-2 |
SMART |
Pfam:Atg14
|
183 |
469 |
4.9e-21 |
PFAM |
low complexity region
|
546 |
557 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207032
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208609
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208992
|
Predicted Effect |
unknown
Transcript: ENSMUST00000209123
AA Change: C134S
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a transposon induced knock-out allele are viable and fertile but exhibit impaired autophagic flux, autophagosome accumulation in the heart, and age-related cardiomyopathy associated with compromised cardiac function and heart inflammation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
C |
T |
14: 68,819,447 (GRCm39) |
V17I |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,793,013 (GRCm39) |
L1418P |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,802,453 (GRCm39) |
S1782P |
probably damaging |
Het |
Btbd9 |
T |
A |
17: 30,553,281 (GRCm39) |
N394Y |
probably damaging |
Het |
Calb2 |
A |
G |
8: 110,883,620 (GRCm39) |
Y35H |
probably benign |
Het |
Cdon |
A |
G |
9: 35,400,328 (GRCm39) |
E1014G |
possibly damaging |
Het |
Cep83 |
A |
G |
10: 94,622,687 (GRCm39) |
T588A |
probably benign |
Het |
Cfap126 |
T |
C |
1: 170,941,600 (GRCm39) |
S32P |
possibly damaging |
Het |
Clcn7 |
T |
C |
17: 25,369,567 (GRCm39) |
L301P |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,488,198 (GRCm39) |
D610G |
probably damaging |
Het |
Dok3 |
A |
G |
13: 55,672,306 (GRCm39) |
S154P |
probably damaging |
Het |
Ggta1 |
T |
A |
2: 35,298,000 (GRCm39) |
T162S |
probably benign |
Het |
Gldn |
G |
A |
9: 54,245,624 (GRCm39) |
E392K |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,205,452 (GRCm39) |
D447E |
probably damaging |
Het |
Itih5 |
A |
T |
2: 10,243,435 (GRCm39) |
N391Y |
possibly damaging |
Het |
Jchain |
G |
A |
5: 88,670,398 (GRCm39) |
P74S |
probably damaging |
Het |
Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,544,910 (GRCm39) |
V236A |
probably benign |
Het |
Mcm3ap |
T |
C |
10: 76,325,260 (GRCm39) |
S954P |
possibly damaging |
Het |
Myh11 |
T |
C |
16: 14,021,098 (GRCm39) |
N1725S |
probably benign |
Het |
Ppcdc |
C |
T |
9: 57,328,408 (GRCm39) |
|
probably null |
Het |
Rhobtb3 |
A |
G |
13: 76,087,600 (GRCm39) |
I129T |
probably damaging |
Het |
Sfxn2 |
A |
G |
19: 46,579,592 (GRCm39) |
R252G |
probably benign |
Het |
Sh2d2a |
C |
A |
3: 87,759,027 (GRCm39) |
|
probably null |
Het |
Sh3gl1 |
T |
C |
17: 56,325,953 (GRCm39) |
K159E |
possibly damaging |
Het |
Slc7a9 |
A |
G |
7: 35,152,926 (GRCm39) |
T115A |
probably benign |
Het |
Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
Synj2 |
A |
T |
17: 6,078,718 (GRCm39) |
D1020V |
probably damaging |
Het |
Tenm2 |
C |
A |
11: 35,942,644 (GRCm39) |
V1342L |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,090,652 (GRCm39) |
I56N |
possibly damaging |
Het |
Traj7 |
A |
G |
14: 54,448,938 (GRCm39) |
|
probably benign |
Het |
Unc5d |
A |
G |
8: 29,184,620 (GRCm39) |
F627L |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,041,062 (GRCm39) |
N698K |
probably benign |
Het |
Usp17la |
A |
T |
7: 104,510,937 (GRCm39) |
N514I |
possibly damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,531 (GRCm39) |
D459G |
probably benign |
Het |
|
Other mutations in Uvrag |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00490:Uvrag
|
APN |
7 |
98,628,948 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01085:Uvrag
|
APN |
7 |
98,767,431 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01362:Uvrag
|
APN |
7 |
98,537,720 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01510:Uvrag
|
APN |
7 |
98,653,796 (GRCm39) |
nonsense |
probably null |
|
IGL02016:Uvrag
|
APN |
7 |
98,748,649 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02164:Uvrag
|
APN |
7 |
98,653,896 (GRCm39) |
nonsense |
probably null |
|
IGL02170:Uvrag
|
APN |
7 |
98,758,297 (GRCm39) |
nonsense |
probably null |
|
IGL02836:Uvrag
|
APN |
7 |
98,628,984 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02963:Uvrag
|
APN |
7 |
98,555,697 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4651001:Uvrag
|
UTSW |
7 |
98,555,727 (GRCm39) |
missense |
probably benign |
0.23 |
R0016:Uvrag
|
UTSW |
7 |
98,641,188 (GRCm39) |
missense |
probably benign |
0.01 |
R0016:Uvrag
|
UTSW |
7 |
98,641,188 (GRCm39) |
missense |
probably benign |
0.01 |
R0304:Uvrag
|
UTSW |
7 |
98,537,180 (GRCm39) |
missense |
probably benign |
0.03 |
R0394:Uvrag
|
UTSW |
7 |
98,653,926 (GRCm39) |
splice site |
probably benign |
|
R0561:Uvrag
|
UTSW |
7 |
98,537,768 (GRCm39) |
missense |
probably damaging |
0.96 |
R1398:Uvrag
|
UTSW |
7 |
98,715,027 (GRCm39) |
nonsense |
probably null |
|
R1646:Uvrag
|
UTSW |
7 |
98,767,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R1692:Uvrag
|
UTSW |
7 |
98,653,870 (GRCm39) |
missense |
probably benign |
0.02 |
R1760:Uvrag
|
UTSW |
7 |
98,537,555 (GRCm39) |
missense |
probably benign |
0.03 |
R1767:Uvrag
|
UTSW |
7 |
98,748,601 (GRCm39) |
missense |
probably damaging |
0.98 |
R2011:Uvrag
|
UTSW |
7 |
98,589,096 (GRCm39) |
critical splice donor site |
probably null |
|
R2484:Uvrag
|
UTSW |
7 |
98,537,668 (GRCm39) |
missense |
probably benign |
0.00 |
R3698:Uvrag
|
UTSW |
7 |
98,589,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R3766:Uvrag
|
UTSW |
7 |
98,537,350 (GRCm39) |
nonsense |
probably null |
|
R3810:Uvrag
|
UTSW |
7 |
98,628,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R4703:Uvrag
|
UTSW |
7 |
98,638,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R5853:Uvrag
|
UTSW |
7 |
98,537,284 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5896:Uvrag
|
UTSW |
7 |
98,637,414 (GRCm39) |
nonsense |
probably null |
|
R6185:Uvrag
|
UTSW |
7 |
98,790,039 (GRCm39) |
critical splice donor site |
probably null |
|
R6248:Uvrag
|
UTSW |
7 |
98,637,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R6457:Uvrag
|
UTSW |
7 |
98,555,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R6812:Uvrag
|
UTSW |
7 |
98,537,689 (GRCm39) |
missense |
probably benign |
|
R7451:Uvrag
|
UTSW |
7 |
98,790,120 (GRCm39) |
missense |
unknown |
|
R7724:Uvrag
|
UTSW |
7 |
98,641,170 (GRCm39) |
missense |
probably benign |
0.06 |
R7769:Uvrag
|
UTSW |
7 |
98,628,928 (GRCm39) |
missense |
probably damaging |
0.98 |
R8094:Uvrag
|
UTSW |
7 |
98,641,174 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8271:Uvrag
|
UTSW |
7 |
98,537,698 (GRCm39) |
missense |
probably benign |
0.00 |
R8874:Uvrag
|
UTSW |
7 |
98,628,943 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTATGTACTTCTAGCTGGGAAAG -3'
(R):5'- TCAGGCATAAGGAACCCCAG -3'
Sequencing Primer
(F):5'- TGTACTTCTAGCTGGGAAAGTACAG -3'
(R):5'- CAGGAAAGCAGTGTACCCGTC -3'
|
Posted On |
2015-02-19 |