Incidental Mutation 'IGL02170:Uvrag'
ID282895
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 #IGL02170
Quality Score
Status
Chromosome7
Chromosomal Location98885021-99141141 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 99109090 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 81 (Y81*)
Ref Sequence ENSEMBL: ENSMUSP00000146640 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037968] [ENSMUST00000208992]
Predicted Effect probably null
Transcript: ENSMUST00000037968
AA Change: Y81*
SMART Domains Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: Y81*

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: ENSMUST00000208502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208609
Predicted Effect probably null
Transcript: ENSMUST00000208992
AA Change: Y81*
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 17,118,332 P176L probably damaging Het
4932414N04Rik A G 2: 68,731,123 M265V probably benign Het
A2ml1 T C 6: 128,547,210 E1153G possibly damaging Het
Adam22 T C 5: 8,134,845 T452A probably benign Het
Ambra1 A G 2: 91,767,087 T56A possibly damaging Het
Atp1a4 A G 1: 172,234,536 V674A possibly damaging Het
AW549877 C T 15: 3,986,366 V239I probably benign Het
Ccnb1 A T 13: 100,783,486 Y172* probably null Het
Chrdl2 A T 7: 100,034,614 T416S possibly damaging Het
Col6a5 A G 9: 105,928,422 L1095P unknown Het
Dhx16 T C 17: 35,889,469 C901R probably damaging Het
Dip2c A G 13: 9,606,335 T732A probably benign Het
Dnah12 A C 14: 26,773,112 I1376L probably damaging Het
Dock2 A T 11: 34,267,949 L1207Q probably damaging Het
Eif2ak1 A T 5: 143,879,460 H192L probably benign Het
Evi5 T A 5: 107,821,884 T54S probably benign Het
Fam151a T C 4: 106,735,598 probably null Het
Fam98a C T 17: 75,540,192 probably null Het
Frmd4a G A 2: 4,566,177 R306K probably damaging Het
Fxyd7 C A 7: 31,045,007 V28L possibly damaging Het
Gabrb1 T A 5: 72,136,730 I449K probably damaging Het
Gkn3 G T 6: 87,383,511 D167E possibly damaging Het
Gm14496 A T 2: 181,996,351 Y406F probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Gm8603 T A 17: 13,516,811 noncoding transcript Het
Hecw1 T C 13: 14,264,158 N880S possibly damaging Het
Hivep2 C A 10: 14,127,804 Q49K possibly damaging Het
Hscb T A 5: 110,839,626 S35C probably damaging Het
Hspa12a T G 19: 58,804,681 K357N probably benign Het
Kcnu1 A T 8: 25,937,560 I302F probably damaging Het
Krtap5-3 T A 7: 142,202,478 C351S unknown Het
Mvd A G 8: 122,438,008 V142A probably benign Het
Myo1f A T 17: 33,578,272 I143L probably benign Het
Ncoa7 T A 10: 30,689,853 E599D possibly damaging Het
Nfasc A T 1: 132,610,366 C495* probably null Het
Nfx1 G A 4: 41,018,019 G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 noncoding transcript Het
Nup85 T A 11: 115,577,931 V200E probably damaging Het
Olfr262 T C 19: 12,240,756 M302V probably benign Het
Olfr30 T A 11: 58,455,080 I290F probably damaging Het
Pask T C 1: 93,310,884 Q1293R possibly damaging Het
Ppfia2 T A 10: 106,800,785 S232T probably benign Het
Prr12 G A 7: 45,046,188 R1285W unknown Het
Slc1a1 T A 19: 28,902,753 F278I possibly damaging Het
Sos1 G T 17: 80,398,290 T1284N probably damaging Het
Sp2 T A 11: 96,956,210 Q475L probably damaging Het
Sspo A T 6: 48,467,983 T2134S possibly damaging Het
Tbx1 C A 16: 18,582,802 A300S probably benign Het
Tmem5 A T 10: 122,094,643 D126E probably damaging Het
Uap1 A C 1: 170,166,712 V65G probably benign Het
Ubr2 G A 17: 46,967,197 T738I probably benign Het
Vmn2r116 T G 17: 23,384,933 I44S probably benign Het
Xkr8 A T 4: 132,728,377 Y228* probably null Het
Zbtb20 A G 16: 43,609,662 I106V possibly damaging Het
Zc3h7a C T 16: 11,146,395 S683N probably benign Het
Zfp146 A T 7: 30,162,480 C46S possibly damaging Het
Zfp871 T C 17: 32,775,688 E152G possibly damaging Het
Zfp90 T C 8: 106,419,524 V57A probably damaging Het
Zhx3 A T 2: 160,779,798 N816K 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
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
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 On2015-04-16