Incidental Mutation 'IGL01085:Uvrag'
| ID |
51481 |
| 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 # |
IGL01085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
98535949-98790373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98767431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 67
(T67A)
|
| 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: T67A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: T67A
| 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: ENSMUST00000207435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208609
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208992
AA Change: T67A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6971 |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,944,763 (GRCm39) |
|
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,310,478 (GRCm39) |
Y453C |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,337,576 (GRCm39) |
D683G |
probably damaging |
Het |
| Cacna1b |
G |
T |
2: 24,569,006 (GRCm39) |
R974S |
probably damaging |
Het |
| Ceacam23 |
A |
T |
7: 17,649,616 (GRCm39) |
H729L |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,297 (GRCm39) |
E350G |
possibly damaging |
Het |
| Cep112 |
G |
T |
11: 108,377,432 (GRCm39) |
R270L |
probably damaging |
Het |
| Crem |
T |
C |
18: 3,299,236 (GRCm39) |
T26A |
probably damaging |
Het |
| Crot |
T |
C |
5: 9,023,955 (GRCm39) |
H387R |
probably damaging |
Het |
| Fdxr |
A |
T |
11: 115,160,402 (GRCm39) |
V351E |
probably benign |
Het |
| Fkbpl |
T |
C |
17: 34,864,718 (GRCm39) |
L162P |
probably damaging |
Het |
| Fmn2 |
T |
A |
1: 174,523,220 (GRCm39) |
N1358K |
probably damaging |
Het |
| Hectd4 |
G |
T |
5: 121,469,764 (GRCm39) |
G2553V |
probably damaging |
Het |
| Ifna16 |
A |
T |
4: 88,594,969 (GRCm39) |
I42K |
probably benign |
Het |
| Igfals |
C |
T |
17: 25,100,634 (GRCm39) |
T575I |
probably benign |
Het |
| Il6 |
G |
T |
5: 30,218,487 (GRCm39) |
V28F |
probably damaging |
Het |
| Irx1 |
A |
G |
13: 72,107,816 (GRCm39) |
S289P |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,219,303 (GRCm39) |
T1245A |
possibly damaging |
Het |
| Nr3c2 |
G |
T |
8: 77,634,983 (GRCm39) |
R28L |
probably benign |
Het |
| Nudt5 |
G |
A |
2: 5,869,238 (GRCm39) |
V155I |
probably benign |
Het |
| Or9s13 |
G |
T |
1: 92,547,921 (GRCm39) |
V98F |
possibly damaging |
Het |
| Pcm1 |
T |
C |
8: 41,762,640 (GRCm39) |
S1395P |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,426,148 (GRCm39) |
|
probably null |
Het |
| Prodh |
A |
T |
16: 17,894,208 (GRCm39) |
V339E |
probably damaging |
Het |
| Rbm48 |
C |
T |
5: 3,634,762 (GRCm39) |
V401M |
probably benign |
Het |
| Retreg3 |
G |
A |
11: 100,991,751 (GRCm39) |
Q61* |
probably null |
Het |
| Rif1 |
A |
G |
2: 51,975,152 (GRCm39) |
M354V |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,626,926 (GRCm39) |
V507M |
probably damaging |
Het |
| Safb2 |
T |
A |
17: 56,872,242 (GRCm39) |
R197* |
probably null |
Het |
| Slc22a26 |
A |
G |
19: 7,767,464 (GRCm39) |
V314A |
probably benign |
Het |
| Slfnl1 |
G |
T |
4: 120,390,553 (GRCm39) |
R68L |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,181,997 (GRCm39) |
Q10K |
possibly damaging |
Het |
| Swi5 |
T |
C |
2: 32,170,739 (GRCm39) |
M95V |
possibly damaging |
Het |
| Thpo |
T |
C |
16: 20,547,205 (GRCm39) |
D52G |
probably damaging |
Het |
| Tmem101 |
A |
T |
11: 102,045,486 (GRCm39) |
L121Q |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,133 (GRCm39) |
I187V |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,074,206 (GRCm39) |
K351E |
possibly damaging |
Het |
| Vcan |
T |
C |
13: 89,828,077 (GRCm39) |
D2163G |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,385,771 (GRCm39) |
V61I |
probably benign |
Het |
| Zfp804b |
A |
G |
5: 6,820,931 (GRCm39) |
S675P |
probably damaging |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation