Incidental Mutation 'IGL02836:Uvrag'
| ID |
361652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uvrag
|
| Ensembl Gene |
ENSMUSG00000035354 |
| Gene Name |
UV radiation resistance associated gene |
| Synonyms |
9530039D02Rik, Uvragl |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL02836
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
98535949-98790373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98628984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 361
(V361A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037968]
|
| AlphaFold |
Q8K245 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037968
AA Change: V361A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: V361A
| 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: ENSMUST00000209123
|
| 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 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,349,782 (GRCm39) |
N346K |
possibly damaging |
Het |
| Abca15 |
A |
G |
7: 119,987,439 (GRCm39) |
M1242V |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,139,374 (GRCm39) |
E33D |
probably damaging |
Het |
| Abca8a |
T |
C |
11: 109,961,177 (GRCm39) |
K582E |
possibly damaging |
Het |
| Abcb6 |
A |
G |
1: 75,154,646 (GRCm39) |
L263P |
probably damaging |
Het |
| Adamts2 |
A |
C |
11: 50,678,106 (GRCm39) |
E795A |
probably damaging |
Het |
| Avil |
T |
A |
10: 126,844,864 (GRCm39) |
I292N |
probably damaging |
Het |
| Cd300ld2 |
T |
C |
11: 114,904,576 (GRCm39) |
D97G |
probably benign |
Het |
| Cfh |
A |
C |
1: 140,030,137 (GRCm39) |
I912R |
probably damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,604 (GRCm39) |
Q156L |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,574,978 (GRCm39) |
I614V |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,660,826 (GRCm39) |
S896T |
probably damaging |
Het |
| Dmtn |
G |
T |
14: 70,853,518 (GRCm39) |
P97Q |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,713,160 (GRCm39) |
V1931E |
probably damaging |
Het |
| Dpep2 |
C |
A |
8: 106,717,227 (GRCm39) |
|
probably null |
Het |
| Dsg1c |
T |
A |
18: 20,400,986 (GRCm39) |
L163Q |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,202,960 (GRCm39) |
|
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,816,783 (GRCm39) |
I2415N |
possibly damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,307 (GRCm39) |
D18G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,682,725 (GRCm39) |
V74A |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,010 (GRCm39) |
V1101A |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,496,987 (GRCm39) |
V399E |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,237 (GRCm39) |
K45N |
probably benign |
Het |
| Gbe1 |
A |
G |
16: 70,357,983 (GRCm39) |
Y669C |
possibly damaging |
Het |
| Gcnt1 |
T |
C |
19: 17,307,493 (GRCm39) |
I77M |
probably benign |
Het |
| Itprid1 |
T |
A |
6: 55,875,075 (GRCm39) |
W342R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,255,405 (GRCm39) |
|
probably null |
Het |
| Muc2 |
A |
T |
7: 141,300,450 (GRCm39) |
|
probably benign |
Het |
| Nacc2 |
C |
T |
2: 25,980,329 (GRCm39) |
V36I |
probably damaging |
Het |
| Nphp1 |
T |
C |
2: 127,611,543 (GRCm39) |
I268V |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,678,332 (GRCm39) |
I5V |
probably benign |
Het |
| Or9m1 |
T |
G |
2: 87,733,724 (GRCm39) |
T99P |
possibly damaging |
Het |
| Pex7 |
A |
G |
10: 19,769,990 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,988,440 (GRCm39) |
K352E |
probably benign |
Het |
| Rheb |
T |
A |
5: 25,008,709 (GRCm39) |
I170F |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,382,714 (GRCm39) |
|
probably null |
Het |
| Rps2 |
T |
A |
17: 24,939,650 (GRCm39) |
L107Q |
probably damaging |
Het |
| Rrp1 |
A |
T |
10: 78,240,874 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
A |
T |
10: 85,779,806 (GRCm39) |
V288D |
possibly damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,020,084 (GRCm39) |
F174L |
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,775,909 (GRCm39) |
V202M |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,325,366 (GRCm39) |
C32S |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,359,875 (GRCm39) |
|
probably benign |
Het |
| Synrg |
C |
A |
11: 83,892,804 (GRCm39) |
|
probably benign |
Het |
| Tmem219 |
A |
T |
7: 126,488,121 (GRCm39) |
F265I |
probably benign |
Het |
| Tmem94 |
T |
C |
11: 115,683,765 (GRCm39) |
I726T |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,087,785 (GRCm39) |
M632T |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,790,846 (GRCm39) |
Q627L |
probably damaging |
Het |
| Yipf3 |
C |
A |
17: 46,562,520 (GRCm39) |
N308K |
possibly damaging |
Het |
| Zfp438 |
A |
G |
18: 5,245,427 (GRCm39) |
|
probably benign |
Het |
| Zmiz1 |
T |
A |
14: 25,657,166 (GRCm39) |
|
probably benign |
Het |
| Zranb3 |
A |
G |
1: 127,888,562 (GRCm39) |
V841A |
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 |
|
|
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 |
|
R3684:Uvrag
|
UTSW |
7 |
98,637,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation