Incidental Mutation 'IGL02963:Uvrag'
ID365461
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 #IGL02963
Quality Score
Status
Chromosome7
Chromosomal Location98885021-99141141 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 98906490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037968]
Predicted Effect probably null
Transcript: ENSMUST00000037968
SMART Domains Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354

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: ENSMUST00000207697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209090
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,384,529 L565Q probably damaging Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Arhgap44 A T 11: 65,031,663 I348N probably damaging Het
Bahcc1 T C 11: 120,274,932 S1005P possibly damaging Het
Cdh20 T A 1: 104,934,098 M1K probably null Het
Cpsf3 T C 12: 21,302,422 S387P probably damaging Het
Cyp2j6 T C 4: 96,518,184 E450G probably damaging Het
Cyr61 A G 3: 145,647,875 Y311H probably damaging Het
Dusp13 T C 14: 21,733,807 T147A possibly damaging Het
Eif3c T C 7: 126,556,820 T493A probably benign Het
Ell2 T C 13: 75,769,643 V564A possibly damaging Het
Gm4788 G A 1: 139,731,596 Q732* probably null Het
Gtf2ird1 T G 5: 134,389,687 E478D probably benign Het
Gys2 A T 6: 142,449,428 probably null Het
H2-T3 T C 17: 36,189,634 T104A probably damaging Het
Herc1 T C 9: 66,388,823 S567P probably damaging Het
Kcnq3 A T 15: 66,285,826 probably benign Het
Kdm7a T C 6: 39,143,230 H935R probably damaging Het
Lcat A T 8: 105,939,956 F311L probably damaging Het
Manf A G 9: 106,891,139 S49P possibly damaging Het
Med25 T C 7: 44,892,256 K37E probably damaging Het
Ms4a4b T A 19: 11,454,698 I61K probably damaging Het
Muc5b T C 7: 141,864,264 I3649T probably damaging Het
Myo18a T G 11: 77,842,018 probably benign Het
Ncoa4 T C 14: 32,176,509 C429R probably damaging Het
Olfr113 A G 17: 37,574,854 S190P probably benign Het
Pigk G T 3: 152,766,461 E337* probably null Het
Pigz A T 16: 31,944,535 Y137F probably damaging Het
Ppp1r12b A G 1: 134,886,548 L339P probably damaging Het
Rasa2 C A 9: 96,570,785 L349F probably damaging Het
Reep4 A G 14: 70,547,970 S186G possibly damaging Het
Rfx7 A G 9: 72,617,616 K696R probably benign Het
Rnf220 A G 4: 117,490,192 F8L probably damaging Het
Rprm T C 2: 54,085,214 T31A probably benign Het
Sez6 T A 11: 77,962,949 L148Q possibly damaging Het
Sh2d6 C T 6: 72,517,601 V96I probably benign Het
Slc16a9 G T 10: 70,267,136 V81F probably damaging Het
Slc9a9 T A 9: 95,020,714 probably null Het
Sppl3 T A 5: 115,061,603 L22Q probably damaging Het
Ssc5d T C 7: 4,944,327 S1227P probably benign Het
Tbc1d1 T A 5: 64,264,366 V238E probably damaging Het
Tmco6 G A 18: 36,738,745 probably null Het
Tyr A G 7: 87,483,997 V287A probably benign Het
Vmn1r167 A G 7: 23,505,550 S14P possibly damaging Het
Vmn1r171 A G 7: 23,632,688 T113A possibly damaging Het
Wnk4 A G 11: 101,276,213 probably benign Het
Zan T C 5: 137,456,250 T1431A unknown 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
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
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 On2015-12-18