Incidental Mutation 'R8874:Uvrag'
| ID |
676472 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uvrag
|
| Ensembl Gene |
ENSMUSG00000035354 |
| Gene Name |
UV radiation resistance associated gene |
| Synonyms |
9530039D02Rik, Uvragl |
| MMRRC Submission |
068744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R8874 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98535949-98790373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98628943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 375
(F375L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037968]
|
| AlphaFold |
Q8K245 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037968
AA Change: F375L
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: F375L
| 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 |
probably benign
Transcript: ENSMUST00000209123
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (53/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,875,671 (GRCm39) |
M615V |
possibly damaging |
Het |
| Bud31 |
T |
C |
5: 145,079,379 (GRCm39) |
|
probably null |
Het |
| Calhm4 |
A |
G |
10: 33,920,264 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc42 |
A |
G |
11: 68,485,396 (GRCm39) |
K105E |
probably damaging |
Het |
| Cenpq |
A |
G |
17: 41,242,551 (GRCm39) |
S93P |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,014,159 (GRCm39) |
F1222L |
probably damaging |
Het |
| Cpxm2 |
A |
T |
7: 131,708,010 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,365,157 (GRCm39) |
D1627G |
possibly damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,737 (GRCm39) |
E190G |
possibly damaging |
Het |
| Dpyd |
G |
C |
3: 118,792,981 (GRCm39) |
A563P |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,640,569 (GRCm39) |
N343K |
|
Het |
| Gbp2b |
A |
G |
3: 142,314,040 (GRCm39) |
E440G |
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,355,891 (GRCm39) |
F30L |
probably benign |
Het |
| Gm3404 |
T |
A |
5: 146,464,953 (GRCm39) |
V231E |
possibly damaging |
Het |
| Gramd4 |
A |
G |
15: 85,985,093 (GRCm39) |
H143R |
probably damaging |
Het |
| Greb1l |
A |
T |
18: 10,544,896 (GRCm39) |
E1408V |
probably benign |
Het |
| Hdgfl1 |
T |
G |
13: 26,954,007 (GRCm39) |
Y22S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,445,793 (GRCm39) |
V1590D |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,943,608 (GRCm39) |
|
probably benign |
Het |
| Igkv8-30 |
C |
A |
6: 70,094,150 (GRCm39) |
R87L |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,506 (GRCm39) |
C179S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,684 (GRCm39) |
K589R |
probably benign |
Het |
| Jph4 |
T |
C |
14: 55,351,534 (GRCm39) |
T161A |
possibly damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,896 (GRCm39) |
M17K |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,056,209 (GRCm39) |
N699S |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,582,643 (GRCm39) |
|
probably null |
Het |
| Lca5 |
A |
G |
9: 83,277,503 (GRCm39) |
F614L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,812,147 (GRCm39) |
V853A |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,455,523 (GRCm39) |
T1406S |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,771,617 (GRCm39) |
I552V |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,472,163 (GRCm39) |
I414L |
|
Het |
| Myom1 |
A |
G |
17: 71,413,199 (GRCm39) |
K1271E |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,675 (GRCm39) |
K64M |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,623 (GRCm39) |
V48E |
possibly damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,069 (GRCm39) |
F192S |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,859,785 (GRCm39) |
D1168E |
possibly damaging |
Het |
| Prr5 |
T |
C |
15: 84,583,916 (GRCm39) |
M181T |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,744,168 (GRCm39) |
I151T |
probably damaging |
Het |
| Ptpn7 |
T |
C |
1: 135,067,004 (GRCm39) |
V287A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,042,747 (GRCm39) |
V2057A |
|
Het |
| Rad17 |
G |
T |
13: 100,754,327 (GRCm39) |
A631E |
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Slc22a2 |
A |
T |
17: 12,828,866 (GRCm39) |
D324V |
probably benign |
Het |
| Strc |
C |
T |
2: 121,205,353 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
G |
18: 14,963,127 (GRCm39) |
D622E |
probably benign |
Het |
| Tgfbrap1 |
A |
C |
1: 43,114,973 (GRCm39) |
N42K |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,877,999 (GRCm39) |
I466T |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,956,617 (GRCm39) |
K2E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,881,772 (GRCm39) |
T1274A |
|
Het |
| Vwa3b |
C |
T |
1: 37,074,839 (GRCm39) |
A2V |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,116,394 (GRCm39) |
V2092A |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,946,135 (GRCm39) |
S1055P |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,754,815 (GRCm39) |
T982A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCTTTCCAGCATACTCAGCG -3'
(R):5'- GTTAGTAGGTGCAGTTTCAAGC -3'
Sequencing Primer
(F):5'- AGCATACTCAGCGTTTCACCATG -3'
(R):5'- GGTGCAGTTTCAAGCCTTATTAATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation