Incidental Mutation 'R1398:Uvrag'
ID 160235
Institutional Source Beutler Lab
Gene Symbol Uvrag
Ensembl Gene ENSMUSG00000035354
Gene Name UV radiation resistance associated gene
Synonyms 9530039D02Rik, Uvragl
MMRRC Submission 039460-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R1398 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 98535949-98790373 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 98715027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 190 (Y190*)
Ref Sequence ENSEMBL: ENSMUSP00000045297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037968] [ENSMUST00000208992]
AlphaFold Q8K245
Predicted Effect probably null
Transcript: ENSMUST00000037968
AA Change: Y190*
SMART Domains Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: Y190*

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: ENSMUST00000208012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208609
Predicted Effect probably benign
Transcript: ENSMUST00000208992
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 96% (75/78)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,547,511 (GRCm39) K288E probably damaging Het
Aldh3a2 T C 11: 61,147,562 (GRCm39) probably null Het
Anks1b A G 10: 89,885,891 (GRCm39) T196A probably damaging Het
Anks6 T A 4: 47,044,926 (GRCm39) T327S possibly damaging Het
Bdh2 T C 3: 135,001,057 (GRCm39) probably benign Het
C4b T A 17: 34,949,693 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,562,764 (GRCm39) V847I possibly damaging Het
Cadps G T 14: 12,449,822 (GRCm38) T1129K probably damaging Het
Cdc45 A G 16: 18,600,721 (GRCm39) probably benign Het
Cep63 A T 9: 102,480,285 (GRCm39) probably benign Het
Chil4 T A 3: 106,126,825 (GRCm39) probably null Het
Cnot11 A G 1: 39,584,261 (GRCm39) R478G probably damaging Het
Cyp2c67 A G 19: 39,627,069 (GRCm39) S254P probably damaging Het
Dnah11 T A 12: 118,020,841 (GRCm39) K87* probably null Het
Dpy19l2 T A 9: 24,492,559 (GRCm39) probably benign Het
Dsc1 A T 18: 20,221,393 (GRCm39) I694N probably damaging Het
Ehd4 A T 2: 119,958,081 (GRCm39) I168K probably benign Het
Eif4e A T 3: 138,252,136 (GRCm39) N25Y probably damaging Het
Elapor2 A G 5: 9,430,297 (GRCm39) Y69C probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Fgfrl1 T A 5: 108,854,147 (GRCm39) probably benign Het
Fhip2a T A 19: 57,361,358 (GRCm39) probably benign Het
Gm3159 T A 14: 4,398,586 (GRCm38) Y92* probably null Het
Gm4922 T A 10: 18,659,496 (GRCm39) S409C possibly damaging Het
Gmcl1 G A 6: 86,691,244 (GRCm39) probably benign Het
Grsf1 A G 5: 88,813,706 (GRCm39) Y231H probably benign Het
Heatr4 T A 12: 84,014,395 (GRCm39) H614L possibly damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Isg20l2 C A 3: 87,846,061 (GRCm39) L325I probably benign Het
Kalrn A G 16: 34,033,190 (GRCm39) Y879H probably damaging Het
Kcnk10 C A 12: 98,402,485 (GRCm39) W318L probably damaging Het
Kctd1 T C 18: 15,195,654 (GRCm39) E323G possibly damaging Het
Kif4 G T X: 99,732,703 (GRCm39) A492S probably benign Het
Krtap4-1 T C 11: 99,518,558 (GRCm39) T151A unknown Het
Ldlr A T 9: 21,650,838 (GRCm39) Q449L probably benign Het
Lepr T A 4: 101,649,216 (GRCm39) D872E probably damaging Het
Lgals12 C T 19: 7,581,322 (GRCm39) probably benign Het
Lrig3 C T 10: 125,838,957 (GRCm39) P488L probably benign Het
Lrrc4b A C 7: 44,111,876 (GRCm39) I583L probably benign Het
Lyst T C 13: 13,915,121 (GRCm39) S3272P possibly damaging Het
Marchf2 T C 17: 33,915,096 (GRCm39) H166R probably damaging Het
Mtbp C A 15: 55,440,933 (GRCm39) Y373* probably null Het
Myh2 C T 11: 67,076,113 (GRCm39) H767Y probably benign Het
Ncam1 G A 9: 49,428,889 (GRCm39) probably benign Het
Neb T A 2: 52,179,658 (GRCm39) N1282Y probably damaging Het
Nectin3 A G 16: 46,269,119 (GRCm39) Y428H possibly damaging Het
Nrros A T 16: 31,961,962 (GRCm39) I649N probably damaging Het
Nvl A T 1: 180,924,691 (GRCm39) probably benign Het
Or5p70 T A 7: 107,994,708 (GRCm39) V127E probably damaging Het
Pms1 A T 1: 53,246,435 (GRCm39) V368E possibly damaging Het
Polq T A 16: 36,882,857 (GRCm39) S1674T possibly damaging Het
Ppp1r21 T C 17: 88,850,307 (GRCm39) V31A probably damaging Het
Rev3l T A 10: 39,697,579 (GRCm39) V692E probably benign Het
Robo4 T C 9: 37,319,372 (GRCm39) probably null Het
Rps6kc1 T C 1: 190,532,212 (GRCm39) I597V probably damaging Het
Rtel1 T A 2: 180,977,658 (GRCm39) probably null Het
Scn9a A G 2: 66,314,930 (GRCm39) M1587T probably benign Het
Sec31b T A 19: 44,512,104 (GRCm39) I597F probably benign Het
Skint5 T C 4: 113,636,268 (GRCm39) N650S unknown Het
Slc22a28 G T 19: 8,107,566 (GRCm39) S167* probably null Het
Slfn1 T A 11: 83,011,968 (GRCm39) M28K probably damaging Het
Smc6 T C 12: 11,321,880 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,857 (GRCm39) H282R probably benign Het
Spata31e2 G T 1: 26,724,422 (GRCm39) Q253K possibly damaging Het
Syngr3 C A 17: 24,905,414 (GRCm39) V161L probably benign Het
Trak1 C T 9: 121,283,425 (GRCm39) S397F probably damaging Het
Uso1 C T 5: 92,329,327 (GRCm39) A405V probably benign Het
Vps13d A T 4: 144,826,553 (GRCm39) L1726Q probably null Het
Vwf A T 6: 125,580,420 (GRCm39) Q556L probably benign Het
Wdr70 T A 15: 8,065,325 (GRCm39) M246L probably benign Het
Yipf3 T C 17: 46,562,372 (GRCm39) F285S probably damaging Het
Zdhhc13 G A 7: 48,476,621 (GRCm39) G579R probably damaging Het
Zdhhc18 G C 4: 133,354,608 (GRCm39) F125L probably benign Het
Other mutations in Uvrag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Uvrag APN 7 98,628,948 (GRCm39) missense probably damaging 0.99
IGL01085:Uvrag APN 7 98,767,431 (GRCm39) missense probably damaging 1.00
IGL01362:Uvrag APN 7 98,537,720 (GRCm39) missense probably benign 0.03
IGL01510:Uvrag APN 7 98,653,796 (GRCm39) nonsense probably null
IGL02016:Uvrag APN 7 98,748,649 (GRCm39) missense probably benign 0.06
IGL02164:Uvrag APN 7 98,653,896 (GRCm39) nonsense probably null
IGL02170:Uvrag APN 7 98,758,297 (GRCm39) nonsense probably null
IGL02836:Uvrag APN 7 98,628,984 (GRCm39) missense possibly damaging 0.83
IGL02963:Uvrag APN 7 98,555,697 (GRCm39) critical splice donor site probably null
PIT4651001:Uvrag UTSW 7 98,555,727 (GRCm39) missense probably benign 0.23
R0016:Uvrag UTSW 7 98,641,188 (GRCm39) missense probably benign 0.01
R0016:Uvrag UTSW 7 98,641,188 (GRCm39) missense probably benign 0.01
R0304:Uvrag UTSW 7 98,537,180 (GRCm39) missense probably benign 0.03
R0394:Uvrag UTSW 7 98,653,926 (GRCm39) splice site probably benign
R0561:Uvrag UTSW 7 98,537,768 (GRCm39) missense probably damaging 0.96
R1646:Uvrag UTSW 7 98,767,431 (GRCm39) missense probably damaging 1.00
R1692:Uvrag UTSW 7 98,653,870 (GRCm39) missense probably benign 0.02
R1760:Uvrag UTSW 7 98,537,555 (GRCm39) missense probably benign 0.03
R1767:Uvrag UTSW 7 98,748,601 (GRCm39) missense probably damaging 0.98
R2011:Uvrag UTSW 7 98,589,096 (GRCm39) critical splice donor site probably null
R2484:Uvrag UTSW 7 98,537,668 (GRCm39) missense probably benign 0.00
R3684:Uvrag UTSW 7 98,637,427 (GRCm39) missense probably damaging 1.00
R3698:Uvrag UTSW 7 98,589,150 (GRCm39) missense probably damaging 1.00
R3766:Uvrag UTSW 7 98,537,350 (GRCm39) nonsense probably null
R3810:Uvrag UTSW 7 98,628,919 (GRCm39) missense probably damaging 1.00
R4703:Uvrag UTSW 7 98,638,794 (GRCm39) missense probably damaging 1.00
R5853:Uvrag UTSW 7 98,537,284 (GRCm39) missense possibly damaging 0.80
R5896:Uvrag UTSW 7 98,637,414 (GRCm39) nonsense probably null
R6185:Uvrag UTSW 7 98,790,039 (GRCm39) critical splice donor site probably null
R6248:Uvrag UTSW 7 98,637,398 (GRCm39) missense probably damaging 0.99
R6457:Uvrag UTSW 7 98,555,726 (GRCm39) missense probably damaging 1.00
R6812:Uvrag UTSW 7 98,537,689 (GRCm39) missense probably benign
R7451:Uvrag UTSW 7 98,790,120 (GRCm39) missense unknown
R7724:Uvrag UTSW 7 98,641,170 (GRCm39) missense probably benign 0.06
R7769:Uvrag UTSW 7 98,628,928 (GRCm39) missense probably damaging 0.98
R8094:Uvrag UTSW 7 98,641,174 (GRCm39) missense possibly damaging 0.70
R8271:Uvrag UTSW 7 98,537,698 (GRCm39) missense probably benign 0.00
R8874:Uvrag UTSW 7 98,628,943 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TCCCACTACCCAGTGAGAGGAAATG -3'
(R):5'- GATGAGGCTCCCACAGAGATTATGC -3'

Sequencing Primer
(F):5'- GCCTCTGTCAGGGAGATAAAC -3'
(R):5'- CCCACAGAGATTATGCTTTTTGG -3'
Posted On 2014-03-14