Incidental Mutation 'IGL02164:Uvrag'
ID282575
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: 0.962) question?
Stock #IGL02164
Quality Score
Status
Chromosome7
Chromosomal Location98885021-99141141 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 99004689 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 31 (C31*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037968] [ENSMUST00000208992]
Predicted Effect probably null
Transcript: ENSMUST00000037968
AA Change: C238*
SMART Domains Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: C238*

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: C31*
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik T C 13: 98,984,207 K104E probably damaging Het
4930578C19Rik T A X: 18,418,953 R421* probably null Het
5730480H06Rik T A 5: 48,380,182 V187E probably benign Het
Abcc12 T A 8: 86,527,404 D917V probably damaging Het
Abhd15 A T 11: 77,516,014 E272D probably benign Het
Adat3 T A 10: 80,606,627 S100T probably benign Het
Adgrg6 T C 10: 14,523,555 probably benign Het
Alpl C T 4: 137,753,979 V121M probably damaging Het
Ano1 A T 7: 144,637,181 Y388N possibly damaging Het
Arrdc4 C T 7: 68,739,537 probably benign Het
Asxl2 A G 12: 3,502,079 M1274V probably benign Het
BC048403 A G 10: 121,750,770 Y194C probably damaging Het
Bmt2 G T 6: 13,628,879 N268K possibly damaging Het
Bpifb2 C A 2: 153,883,562 L176M probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cd14 T C 18: 36,725,785 R206G possibly damaging Het
Cfap65 G T 1: 74,928,145 T215K possibly damaging Het
Chd9 T C 8: 90,933,221 S270P possibly damaging Het
Cidea C T 18: 67,366,511 S156L probably damaging Het
Col5a3 A G 9: 20,792,643 probably null Het
Cspg5 T C 9: 110,251,036 V424A probably damaging Het
Ctc1 A G 11: 69,026,096 H272R probably damaging Het
D5Ertd579e A T 5: 36,614,959 S697R probably damaging Het
Dennd3 T C 15: 73,544,448 S516P probably benign Het
Dlgap4 G A 2: 156,711,139 R509H probably damaging Het
Dus3l T C 17: 56,767,943 probably benign Het
Dync1h1 G T 12: 110,662,559 W4183C probably damaging Het
Eif2s3x A T X: 94,205,072 M152K possibly damaging Het
Epb41l1 C T 2: 156,494,949 probably benign Het
Ephx2 A G 14: 66,103,720 probably benign Het
Fabp12 T A 3: 10,246,015 Y129F probably damaging Het
Fat3 A G 9: 16,031,424 probably benign Het
Fat4 T C 3: 38,996,205 probably null Het
Gnb1 T A 4: 155,557,174 probably null Het
Gpr107 C A 2: 31,178,286 Y253* probably null Het
Grb10 C T 11: 11,943,962 E320K probably damaging Het
Gucy2g G T 19: 55,238,023 H154N probably benign Het
Hemk1 T A 9: 107,331,536 H154L probably benign Het
Hk2 A T 6: 82,743,939 probably null Het
Htr5a A G 5: 27,842,465 N6S probably damaging Het
Htra3 T C 5: 35,653,066 D424G probably benign Het
Ift52 A G 2: 163,025,464 probably null Het
Igdcc4 A G 9: 65,124,782 probably benign Het
Itpr1 A G 6: 108,389,483 K124E probably benign Het
Kcnc2 T A 10: 112,455,685 N259K possibly damaging Het
Lmod2 A T 6: 24,603,910 I295F possibly damaging Het
Lrp1 T C 10: 127,563,667 E2324G probably benign Het
Lss T C 10: 76,536,260 S150P probably damaging Het
Macf1 T C 4: 123,480,272 N1515S probably benign Het
Mapk11 T C 15: 89,145,448 probably null Het
Mc3r T A 2: 172,249,394 F179I probably damaging Het
Mtmr9 T A 14: 63,530,288 N291Y probably damaging Het
Myo1h T C 5: 114,334,096 F396L probably damaging Het
Nek2 A G 1: 191,827,304 K307R probably benign Het
Olfr102 C A 17: 37,313,687 M232I probably benign Het
Osmr G A 15: 6,842,048 T296I probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pfkp C T 13: 6,597,915 V542M probably damaging Het
Pmpca C T 2: 26,395,569 S519L probably benign Het
Ptgds A T 2: 25,469,112 Y44N probably damaging Het
Raly T A 2: 154,859,929 Y116* probably null Het
Rock2 A G 12: 16,965,529 D809G probably damaging Het
Sgsm2 T G 11: 74,865,416 N369T possibly damaging Het
Slc6a15 A G 10: 103,418,222 D673G probably benign Het
Spire2 A T 8: 123,332,964 D67V probably damaging Het
St7l T C 3: 104,922,281 probably null Het
Stau2 A G 1: 16,345,828 L469P probably damaging Het
Tefm A G 11: 80,140,089 L107S probably damaging Het
Ticam1 A T 17: 56,270,019 V692D unknown Het
Tipin T A 9: 64,294,349 D143E probably damaging Het
Tmem132c C A 5: 127,536,377 T448K probably damaging Het
Trav8-1 A T 14: 53,469,756 M1L unknown Het
Ttn C A 2: 76,738,797 V27251F probably damaging Het
Zap70 T C 1: 36,771,186 Y126H probably damaging Het
Zfp644 A G 5: 106,638,099 V194A probably benign Het
Zfp663 C T 2: 165,359,048 W22* probably null 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
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 On2015-04-16