Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Uvrag'

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: 0.966) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98885021-99141141 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 99065820 bp (GRCm38)

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*

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: ENSMUST00000208012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208609

Predicted Effect

probably benign
Transcript: ENSMUST00000208992

Meta Mutation Damage Score

0.9755

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,341	Q253K	possibly damaging	Het
9330182L06Rik	A	G	5: 9,380,297	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Olfr495	T	A	7: 108,395,501	V127E	probably damaging	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865		probably null	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in Uvrag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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
R8271:Uvrag	UTSW	7	98888491	missense	probably benign	0.00
R8874:Uvrag	UTSW	7	98979736	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