Incidental Mutation 'IGL01362:Uvrag'
ID75798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uvrag
Ensembl Gene ENSMUSG00000035354
Gene NameUV radiation resistance associated gene
Synonyms9530039D02Rik, Uvragl
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL01362
Quality Score
Status
Chromosome7
Chromosomal Location98885021-99141141 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 98888513 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 492 (S492P)
Ref Sequence ENSEMBL: ENSMUSP00000045297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037968]
Predicted Effect probably benign
Transcript: ENSMUST00000037968
AA Change: S492P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: S492P

DomainStartEndE-ValueType
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: ENSMUST00000207919
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 86,534,693 D733V probably benign Het
Baz2a G A 10: 128,121,964 G1062D probably damaging Het
Bmp8a C A 4: 123,313,301 R389L probably damaging Het
Ccdc148 A G 2: 58,829,799 V488A probably benign Het
Cdh24 T C 14: 54,638,432 I227V probably benign Het
Dnah6 A G 6: 73,092,178 F2509L probably damaging Het
Dusp1 A G 17: 26,506,644 I247T probably benign Het
Erich6 G A 3: 58,622,360 probably null Het
Fam186b T C 15: 99,280,318 T376A probably benign Het
Gbp9 T C 5: 105,080,206 E570G probably damaging Het
Gm5117 G T 8: 31,737,919 noncoding transcript Het
Gpr37l1 A G 1: 135,161,478 V283A probably benign Het
Heatr5b A G 17: 78,816,338 probably benign Het
Ifit1bl2 G A 19: 34,619,484 T244I probably benign Het
Mcoln1 T C 8: 3,507,558 V188A possibly damaging Het
Mon1a T C 9: 107,902,684 L484P probably damaging Het
Mrgprg T A 7: 143,765,069 D102V probably damaging Het
Mto1 T A 9: 78,452,774 S181R probably benign Het
Myh11 C T 16: 14,277,722 V59I probably benign Het
Myo7a G A 7: 98,097,702 T163I probably damaging Het
Nr4a3 A C 4: 48,051,586 Q142H possibly damaging Het
Olfr1387 A G 11: 49,460,443 I255V probably benign Het
Olfr145 A G 9: 37,898,063 I220V probably benign Het
Olfr237-ps1 A G 6: 43,153,635 E110G probably damaging Het
Olfr295 A T 7: 86,585,439 T55S possibly damaging Het
Pkd1l2 A G 8: 117,021,856 S1859P probably damaging Het
Pkhd1l1 A G 15: 44,532,982 T1967A probably benign Het
Plppr3 C T 10: 79,865,961 R349Q probably damaging Het
Ppp2r5d A G 17: 46,685,517 probably null Het
Prl2c2 C T 13: 13,002,243 C33Y probably damaging Het
Prl3d2 T A 13: 27,122,455 L55* probably null Het
Ralgapb C T 2: 158,435,465 R250C probably damaging Het
Scamp3 C T 3: 89,179,134 P63S probably benign Het
Slc22a6 A G 19: 8,621,208 I210V possibly damaging Het
Stard13 T A 5: 151,189,952 H48L probably benign Het
Tm6sf2 G A 8: 70,077,915 R215H probably damaging Het
Twist2 T C 1: 91,801,928 L101P probably damaging Het
Zan T C 5: 137,452,450 T1622A unknown Het
Zswim2 T A 2: 83,915,346 T583S probably benign Het
Other mutations in Uvrag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Uvrag APN 7 98979741 missense probably damaging 0.99
IGL01085:Uvrag APN 7 99118224 missense probably damaging 1.00
IGL01510:Uvrag APN 7 99004589 nonsense probably null
IGL02016:Uvrag APN 7 99099442 missense probably benign 0.06
IGL02164:Uvrag APN 7 99004689 nonsense probably null
IGL02170:Uvrag APN 7 99109090 nonsense probably null
IGL02836:Uvrag APN 7 98979777 missense possibly damaging 0.83
IGL02963:Uvrag APN 7 98906490 critical splice donor site probably null
PIT4651001:Uvrag UTSW 7 98906520 missense probably benign 0.23
R0016:Uvrag UTSW 7 98991981 missense probably benign 0.01
R0016:Uvrag UTSW 7 98991981 missense probably benign 0.01
R0304:Uvrag UTSW 7 98887973 missense probably benign 0.03
R0394:Uvrag UTSW 7 99004719 splice site probably benign
R0561:Uvrag UTSW 7 98888561 missense probably damaging 0.96
R1398:Uvrag UTSW 7 99065820 nonsense probably null
R1646:Uvrag UTSW 7 99118224 missense probably damaging 1.00
R1692:Uvrag UTSW 7 99004663 missense probably benign 0.02
R1760:Uvrag UTSW 7 98888348 missense probably benign 0.03
R1767:Uvrag UTSW 7 99099394 missense probably damaging 0.98
R2011:Uvrag UTSW 7 98939889 critical splice donor site probably null
R2484:Uvrag UTSW 7 98888461 missense probably benign 0.00
R3684:Uvrag UTSW 7 98988220 missense probably damaging 1.00
R3698:Uvrag UTSW 7 98939943 missense probably damaging 1.00
R3766:Uvrag UTSW 7 98888143 nonsense probably null
R3810:Uvrag UTSW 7 98979712 missense probably damaging 1.00
R4703:Uvrag UTSW 7 98989587 missense probably damaging 1.00
R5853:Uvrag UTSW 7 98888077 missense possibly damaging 0.80
R5896:Uvrag UTSW 7 98988207 nonsense probably null
R6185:Uvrag UTSW 7 99140832 critical splice donor site probably null
R6248:Uvrag UTSW 7 98988191 missense probably damaging 0.99
R6457:Uvrag UTSW 7 98906519 missense probably damaging 1.00
R6812:Uvrag UTSW 7 98888482 missense probably benign
R7451:Uvrag UTSW 7 99140913 missense unknown
R7724:Uvrag UTSW 7 98991963 missense probably benign 0.06
R7769:Uvrag UTSW 7 98979721 missense probably damaging 0.98
R8094:Uvrag UTSW 7 98991967 missense possibly damaging 0.70
R8271:Uvrag UTSW 7 98888491 missense probably benign 0.00
Posted On2013-10-07