Incidental Mutation 'R1692:Uvrag'
| ID |
191859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uvrag
|
| Ensembl Gene |
ENSMUSG00000035354 |
| Gene Name |
UV radiation resistance associated gene |
| Synonyms |
9530039D02Rik, Uvragl |
| MMRRC Submission |
039725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R1692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
98535949-98790373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98653870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 247
(R247Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037968]
[ENSMUST00000208992]
|
| AlphaFold |
Q8K245 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037968
AA Change: R247Q
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: R247Q
| 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: R40Q
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,489,673 (GRCm39) |
*582R |
probably null |
Het |
| Agfg2 |
A |
G |
5: 137,662,633 (GRCm39) |
Y145H |
probably damaging |
Het |
| Aldh1a1 |
C |
T |
19: 20,608,182 (GRCm39) |
P335S |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,463,018 (GRCm39) |
R732G |
possibly damaging |
Het |
| Ankef1 |
A |
T |
2: 136,392,346 (GRCm39) |
I512F |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,999 (GRCm39) |
D17E |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,602,297 (GRCm39) |
|
probably null |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,157 (GRCm39) |
E111G |
probably benign |
Het |
| Cd79a |
T |
A |
7: 24,600,881 (GRCm39) |
M192K |
probably damaging |
Het |
| Clcn1 |
T |
G |
6: 42,290,032 (GRCm39) |
F822L |
possibly damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,199 (GRCm39) |
Y346C |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,407,594 (GRCm39) |
I918T |
probably benign |
Het |
| Fbxw20 |
G |
T |
9: 109,050,777 (GRCm39) |
T377K |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,293,692 (GRCm39) |
I462V |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,266,553 (GRCm39) |
N251S |
probably benign |
Het |
| Gpx1 |
A |
G |
9: 108,216,674 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,340,856 (GRCm39) |
V4443A |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,807 (GRCm39) |
I17K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,811,793 (GRCm39) |
S927G |
probably null |
Het |
| Map7d1 |
G |
A |
4: 126,136,101 (GRCm39) |
P36S |
probably damaging |
Het |
| Mfsd13a |
C |
A |
19: 46,360,515 (GRCm39) |
H356N |
probably benign |
Het |
| Mtap |
C |
T |
4: 89,095,151 (GRCm39) |
R268C |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,555,203 (GRCm39) |
|
probably null |
Het |
| Myom3 |
T |
C |
4: 135,502,862 (GRCm39) |
L313P |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,569,298 (GRCm39) |
V1391E |
probably damaging |
Het |
| Otoa |
A |
C |
7: 120,690,774 (GRCm39) |
Q3P |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,626,717 (GRCm39) |
E576G |
probably damaging |
Het |
| Pigw |
A |
C |
11: 84,767,892 (GRCm39) |
L479R |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,971,041 (GRCm39) |
I507T |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,123 (GRCm39) |
I157N |
probably benign |
Het |
| Rrm2b |
G |
A |
15: 37,927,566 (GRCm39) |
R115* |
probably null |
Het |
| Sall1 |
C |
T |
8: 89,755,028 (GRCm39) |
S1317N |
probably benign |
Het |
| Serpinb6b |
T |
G |
13: 33,158,978 (GRCm39) |
F179V |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,698,454 (GRCm39) |
F648I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,588,754 (GRCm39) |
T298A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,550,171 (GRCm39) |
L830P |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,003,072 (GRCm39) |
N387K |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,326 (GRCm39) |
T486I |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,921,260 (GRCm39) |
P599S |
probably damaging |
Het |
| Tmem33 |
A |
G |
5: 67,425,897 (GRCm39) |
D38G |
probably null |
Het |
| Vars1 |
T |
C |
17: 35,232,701 (GRCm39) |
V875A |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,074,250 (GRCm39) |
E879G |
probably damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,871 (GRCm39) |
V15I |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,702,593 (GRCm39) |
T20A |
probably damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,299 (GRCm39) |
H445Q |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,350,795 (GRCm39) |
V515E |
probably damaging |
Het |
| Zmym5 |
G |
A |
14: 57,041,650 (GRCm39) |
T151M |
probably damaging |
Het |
| Zxdc |
C |
T |
6: 90,355,933 (GRCm39) |
Q481* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACAaacaacaacaacaacaacaaAAAACC -3'
(R):5'- GTCTTCTGTCCTTCTCTATCTtttcattgct -3'
Sequencing Primer
(F):5'- caacaacaacaacaaAAAACCAAAAC -3'
(R):5'- tcttctgtgtcaactgtcctatc -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation