Incidental Mutation 'IGL01510:Uvrag'
ID89167
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: 0.958) question?
Stock #IGL01510
Quality Score
Status
Chromosome7
Chromosomal Location98885021-99141141 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 99004589 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 65 (Q65*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037968] [ENSMUST00000208992]
Predicted Effect probably null
Transcript: ENSMUST00000037968
AA Change: Q272*
SMART Domains Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: Q272*

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: ENSMUST00000207032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208609
Predicted Effect probably benign
Transcript: ENSMUST00000208992
Predicted Effect probably null
Transcript: ENSMUST00000209123
AA Change: Q65*
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,143,979 Q6R probably damaging Het
Adam5 A T 8: 24,804,465 C373S probably damaging Het
Adgre4 T C 17: 55,818,760 probably null Het
Akap10 A T 11: 61,878,020 M614K possibly damaging Het
Amigo2 T C 15: 97,245,081 T487A probably benign Het
Asap1 T C 15: 64,158,928 D300G probably damaging Het
Atp4a C A 7: 30,720,791 L788M probably benign Het
Bcl3 T A 7: 19,809,614 H309L probably damaging Het
Cblc T C 7: 19,785,275 N376S probably benign Het
Cd200r2 A T 16: 44,909,311 I110L probably benign Het
Ceacam3 T C 7: 17,159,842 M426T probably benign Het
Cep295 G A 9: 15,354,626 R29* probably null Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ctps G T 4: 120,558,844 T194K probably damaging Het
Cul3 A G 1: 80,282,679 S318P probably damaging Het
Fasl A T 1: 161,781,953 S155T possibly damaging Het
Gldc C T 19: 30,113,721 probably null Het
Gpr21 T A 2: 37,518,421 C326* probably null Het
Gtf2a1 A G 12: 91,567,833 S216P probably benign Het
Hoxb5 A T 11: 96,303,992 S127C possibly damaging Het
Htt A T 5: 34,907,512 Q3023L probably damaging Het
Kalrn T A 16: 34,235,330 H855L possibly damaging Het
Lars T C 18: 42,242,109 I289V probably benign Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapk7 A T 11: 61,491,160 W309R probably damaging Het
Mmp12 A G 9: 7,358,307 T468A possibly damaging Het
Muc5b A T 7: 141,859,061 N1915Y unknown Het
Naprt A G 15: 75,890,988 probably benign Het
Nfatc1 T C 18: 80,698,188 Y199C probably damaging Het
Olfr857 A T 9: 19,713,279 I151F probably benign Het
Olfr919 T C 9: 38,697,905 I158V probably benign Het
Phip T A 9: 82,913,871 I566F probably benign Het
Pnpla3 T A 15: 84,171,072 probably benign Het
Ptpn13 C T 5: 103,562,300 T1567I probably damaging Het
Ptpn20 A G 14: 33,638,386 probably null Het
Ptprq G T 10: 107,712,048 T163K probably damaging Het
Slc8a1 A G 17: 81,648,365 C415R probably damaging Het
Slco4c1 A G 1: 96,867,953 S127P probably damaging Het
Tcerg1l A T 7: 138,394,305 probably benign Het
Thbd C T 2: 148,406,974 V325M probably damaging Het
Trim37 G A 11: 87,177,860 R344H probably damaging Het
Ttn T C 2: 76,872,765 probably benign Het
Wrap53 G A 11: 69,562,740 S342L possibly damaging Het
Zbtb11 T G 16: 55,990,343 V288G probably damaging 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
IGL01362:Uvrag APN 7 98888513 missense probably benign 0.03
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
Posted On2013-12-03