Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02170:Uvrag'

282895

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uvrag

Ensembl Gene

ENSMUSG00000035354

Gene Name

UV radiation resistance associated gene

Synonyms

9530039D02Rik, Uvragl

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL02170

Quality Score

Status

Chromosome

Chromosomal Location

98535949-98790373 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98758297 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8K245

Predicted Effect

probably null
Transcript: ENSMUST00000037968
AA Change: Y81*

SMART Domains

Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: Y81*

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 16,936,196 (GRCm39)	P176L	probably damaging	Het
4932414N04Rik	A	G	2: 68,561,467 (GRCm39)	M265V	probably benign	Het
A2ml1	T	C	6: 128,524,173 (GRCm39)	E1153G	possibly damaging	Het
Adam22	T	C	5: 8,184,845 (GRCm39)	T452A	probably benign	Het
Ambra1	A	G	2: 91,597,432 (GRCm39)	T56A	possibly damaging	Het
Atp1a4	A	G	1: 172,062,103 (GRCm39)	V674A	possibly damaging	Het
Ccnb1	A	T	13: 100,919,994 (GRCm39)	Y172*	probably null	Het
Chrdl2	A	T	7: 99,683,821 (GRCm39)	T416S	possibly damaging	Het
Col6a5	A	G	9: 105,805,621 (GRCm39)	L1095P	unknown	Het
Dhx16	T	C	17: 36,200,361 (GRCm39)	C901R	probably damaging	Het
Dip2c	A	G	13: 9,656,371 (GRCm39)	T732A	probably benign	Het
Dnah12	A	C	14: 26,495,069 (GRCm39)	I1376L	probably damaging	Het
Dock2	A	T	11: 34,217,949 (GRCm39)	L1207Q	probably damaging	Het
Eif2ak1	A	T	5: 143,816,278 (GRCm39)	H192L	probably benign	Het
Evi5	T	A	5: 107,969,750 (GRCm39)	T54S	probably benign	Het
Fam151a	T	C	4: 106,592,795 (GRCm39)		probably null	Het
Fam98a	C	T	17: 75,847,187 (GRCm39)		probably null	Het
Frmd4a	G	A	2: 4,570,988 (GRCm39)	R306K	probably damaging	Het
Fxyd7	C	A	7: 30,744,432 (GRCm39)	V28L	possibly damaging	Het
Gabrb1	T	A	5: 72,294,073 (GRCm39)	I449K	probably damaging	Het
Gkn3	G	T	6: 87,360,493 (GRCm39)	D167E	possibly damaging	Het
Gm14496	A	T	2: 181,638,144 (GRCm39)	Y406F	probably damaging	Het
Gm8603	T	A	17: 13,737,073 (GRCm39)		noncoding transcript	Het
Hecw1	T	C	13: 14,438,743 (GRCm39)	N880S	possibly damaging	Het
Hivep2	C	A	10: 14,003,548 (GRCm39)	Q49K	possibly damaging	Het
Hscb	T	A	5: 110,987,492 (GRCm39)	S35C	probably damaging	Het
Hspa12a	T	G	19: 58,793,113 (GRCm39)	K357N	probably benign	Het
Kcnu1	A	T	8: 26,427,588 (GRCm39)	I302F	probably damaging	Het
Krtap5-3	T	A	7: 141,756,215 (GRCm39)	C351S	unknown	Het
Mvd	A	G	8: 123,164,747 (GRCm39)	V142A	probably benign	Het
Myo1f	A	T	17: 33,797,246 (GRCm39)	I143L	probably benign	Het
Ncoa7	T	A	10: 30,565,849 (GRCm39)	E599D	possibly damaging	Het
Nfasc	A	T	1: 132,538,104 (GRCm39)	C495*	probably null	Het
Nfx1	G	A	4: 41,018,019 (GRCm39)	G920E	probably damaging	Het
Nlrp4g	T	G	9: 124,348,980 (GRCm38)		noncoding transcript	Het
Nup85	T	A	11: 115,468,757 (GRCm39)	V200E	probably damaging	Het
Or2z2	T	A	11: 58,345,906 (GRCm39)	I290F	probably damaging	Het
Or5an1c	T	C	19: 12,218,120 (GRCm39)	M302V	probably benign	Het
Pask	T	C	1: 93,238,606 (GRCm39)	Q1293R	possibly damaging	Het
Ppfia2	T	A	10: 106,636,646 (GRCm39)	S232T	probably benign	Het
Prr12	G	A	7: 44,695,612 (GRCm39)	R1285W	unknown	Het
Rimoc1	C	T	15: 4,015,848 (GRCm39)	V239I	probably benign	Het
Rxylt1	A	T	10: 121,930,548 (GRCm39)	D126E	probably damaging	Het
Slc1a1	T	A	19: 28,880,153 (GRCm39)	F278I	possibly damaging	Het
Sos1	G	T	17: 80,705,719 (GRCm39)	T1284N	probably damaging	Het
Sp2	T	A	11: 96,847,036 (GRCm39)	Q475L	probably damaging	Het
Spmip2	C	A	3: 79,356,741 (GRCm39)		probably benign	Het
Spmip2	C	A	3: 79,356,742 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,444,917 (GRCm39)	T2134S	possibly damaging	Het
Tbx1	C	A	16: 18,401,552 (GRCm39)	A300S	probably benign	Het
Uap1	A	C	1: 169,994,281 (GRCm39)	V65G	probably benign	Het
Ubr2	G	A	17: 47,278,123 (GRCm39)	T738I	probably benign	Het
Vmn2r116	T	G	17: 23,603,907 (GRCm39)	I44S	probably benign	Het
Xkr8	A	T	4: 132,455,688 (GRCm39)	Y228*	probably null	Het
Zbtb20	A	G	16: 43,430,025 (GRCm39)	I106V	possibly damaging	Het
Zc3h7a	C	T	16: 10,964,259 (GRCm39)	S683N	probably benign	Het
Zfp146	A	T	7: 29,861,905 (GRCm39)	C46S	possibly damaging	Het
Zfp871	T	C	17: 32,994,662 (GRCm39)	E152G	possibly damaging	Het
Zfp90	T	C	8: 107,146,156 (GRCm39)	V57A	probably damaging	Het
Zhx3	A	T	2: 160,621,718 (GRCm39)	N816K	probably damaging	Het

Other mutations in Uvrag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R1398:Uvrag	UTSW	7	98,715,027 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16