Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Uvrag'

173880

Institutional Source

Beutler Lab

Gene Symbol

Uvrag

Ensembl Gene

ENSMUSG00000035354

Gene Name

UV radiation resistance associated gene

Synonyms

9530039D02Rik, Uvragl

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98535949-98790373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98767431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 67 (T67A)

Ref Sequence

ENSEMBL: ENSMUSP00000045297 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037968] [ENSMUST00000208992]

AlphaFold

Q8K245

Predicted Effect

probably damaging
Transcript: ENSMUST00000037968
AA Change: T67A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: T67A

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: ENSMUST00000207435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208609

Predicted Effect

probably damaging
Transcript: ENSMUST00000208992
AA Change: T67A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.6971

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	G	4: 63,302,129 (GRCm39)	I581L	probably benign	Het
Cacnb4	A	G	2: 52,364,912 (GRCm39)	I117T	possibly damaging	Het
Capn1	A	T	19: 6,047,760 (GRCm39)	F434L	probably benign	Het
Cbs	T	C	17: 31,832,169 (GRCm39)	T547A	probably benign	Het
Col6a5	A	T	9: 105,739,948 (GRCm39)	L2557*	probably null	Het
Dach1	A	G	14: 98,406,550 (GRCm39)	S66P	unknown	Het
Ddx31	T	C	2: 28,782,532 (GRCm39)	V625A	probably benign	Het
Dmxl1	T	G	18: 50,095,328 (GRCm39)	V2969G	probably damaging	Het
Eapp	T	A	12: 54,732,745 (GRCm39)	K122*	probably null	Het
Elapor1	A	T	3: 108,370,306 (GRCm39)	S751T	probably damaging	Het
Epb41l5	G	T	1: 119,477,752 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,471,079 (GRCm39)	S1628P	probably damaging	Het
Fgfr2	T	A	7: 129,844,374 (GRCm39)	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,313,777 (GRCm39)	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,808,861 (GRCm39)	T1727S	probably benign	Het
Gak	A	T	5: 108,750,720 (GRCm39)	S397T	probably damaging	Het
Gm6040	T	A	8: 21,407,113 (GRCm39)	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,661,860 (GRCm39)	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,619,940 (GRCm39)	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,536,861 (GRCm39)	V91G	probably damaging	Het
Hells	A	T	19: 38,956,227 (GRCm39)	I808L	probably benign	Het
Icmt	T	A	4: 152,384,172 (GRCm39)	V110E	possibly damaging	Het
Ilrun	A	G	17: 28,012,934 (GRCm39)	S88P	probably damaging	Het
Iqca1	C	T	1: 90,067,760 (GRCm39)	V164M	probably damaging	Het
Klri1	G	A	6: 129,680,299 (GRCm39)	P119S	probably benign	Het
Krt71	C	A	15: 101,647,199 (GRCm39)		probably null	Het
Lpin1	A	G	12: 16,623,659 (GRCm39)		probably null	Het
Macir	A	T	1: 97,573,531 (GRCm39)	I178N	probably damaging	Het
Metap2	T	C	10: 93,706,059 (GRCm39)	H241R	probably damaging	Het
Myh15	A	G	16: 49,015,931 (GRCm39)	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,455,693 (GRCm39)	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,262,594 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,466,434 (GRCm39)	V241A	probably benign	Het
Npbwr1	C	A	1: 5,987,473 (GRCm39)	V14L	probably benign	Het
Nup37	T	A	10: 88,014,096 (GRCm39)	V323E	possibly damaging	Het
Or11g27	A	T	14: 50,771,040 (GRCm39)	Q57L	probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or5p59	C	T	7: 107,702,798 (GRCm39)	T94I	probably benign	Het
Or7a35	C	A	10: 78,853,340 (GRCm39)	Y61*	probably null	Het
Pdlim4	A	T	11: 53,947,080 (GRCm39)	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,875,379 (GRCm39)	D201G	probably benign	Het
Ptk7	A	T	17: 46,897,223 (GRCm39)	F370I	probably benign	Het
Pus7l	T	C	15: 94,431,517 (GRCm39)	N371D	probably benign	Het
Pzp	G	A	6: 128,480,518 (GRCm39)	A589V	probably benign	Het
Rasef	T	A	4: 73,652,786 (GRCm39)	R572W	probably damaging	Het
Reep5	T	C	18: 34,482,712 (GRCm39)	T166A	probably benign	Het
Rhov	A	G	2: 119,101,501 (GRCm39)	V35A	probably damaging	Het
Ripk4	C	T	16: 97,545,097 (GRCm39)	G517R	probably damaging	Het
Rnasel	A	G	1: 153,630,800 (GRCm39)	T439A	probably damaging	Het
Slamf9	A	G	1: 172,304,907 (GRCm39)	T174A	probably benign	Het
Slc12a9	A	G	5: 137,321,411 (GRCm39)	L414P	probably damaging	Het
Slf1	G	A	13: 77,214,767 (GRCm39)	R640*	probably null	Het
Slfn8	G	T	11: 82,907,712 (GRCm39)	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,125,463 (GRCm39)		probably benign	Het
Tm9sf3	A	C	19: 41,211,618 (GRCm39)	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,433 (GRCm39)	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,645,077 (GRCm39)	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,148,018 (GRCm39)	C982R	probably damaging	Het
Usp36	C	T	11: 118,164,392 (GRCm39)	V207M	probably damaging	Het
Vasp	G	A	7: 18,994,903 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,578,513 (GRCm39)	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,434 (GRCm39)	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Wasf2	A	G	4: 132,903,902 (GRCm39)	I37V	probably benign	Het
Wwc2	T	C	8: 48,295,937 (GRCm39)	E1111G	unknown	Het
Zfp317	A	G	9: 19,558,608 (GRCm39)	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,623,195 (GRCm39)	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,754,862 (GRCm39)		probably null	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
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
R1398:Uvrag	UTSW	7	98,715,027 (GRCm39)	nonsense	probably null
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'- CCAGGCTATTCTTCTGAAAATGACCCC -3'
(R):5'- GGCACTGCTGCTTTCCAAACATAAG -3'

Sequencing Primer
(F):5'- CTAGGGACTGGAATAGTATCCATACC -3'
(R):5'- GCTGCTTTCCAAACATAAGAGGAC -3'

Posted On

2014-04-24