Mutagenetix > Incidental Mutation

Incidental Mutation 'R6457:Uvrag'

516527

Institutional Source

Beutler Lab

Gene Symbol

Uvrag

Ensembl Gene

ENSMUSG00000035354

Gene Name

UV radiation resistance associated gene

Synonyms

9530039D02Rik, Uvragl

MMRRC Submission

044592-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R6457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98535949-98790373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98555726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 456 (F456S)

Ref Sequence

ENSEMBL: ENSMUSP00000045297 (fasta)

Gene Model

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

AlphaFold

Q8K245

Predicted Effect

probably damaging
Transcript: ENSMUST00000037968
AA Change: F456S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: F456S

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: ENSMUST00000207697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209090

Predicted Effect

probably benign
Transcript: ENSMUST00000209123

Meta Mutation Damage Score

0.8858

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

97% (63/65)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,772,383 (GRCm39)	V524E	probably damaging	Het
Acer2	T	A	4: 86,818,808 (GRCm39)	M152K	probably damaging	Het
Actn3	T	C	19: 4,921,876 (GRCm39)	D130G	probably damaging	Het
Ank1	T	A	8: 23,577,983 (GRCm39)	F211Y	probably damaging	Het
Ankfn1	C	T	11: 89,282,670 (GRCm39)	A326T	probably benign	Het
Ankrd11	G	A	8: 123,635,503 (GRCm39)	R44C	probably damaging	Het
Ankrd46	A	G	15: 36,484,217 (GRCm39)		probably benign	Het
Aurkb	G	A	11: 68,939,172 (GRCm39)	E132K	possibly damaging	Het
Bsdc1	C	T	4: 129,359,069 (GRCm39)	T9I	possibly damaging	Het
Card14	C	T	11: 119,230,428 (GRCm39)	R767*	probably null	Het
Ccdc82	T	A	9: 13,272,745 (GRCm39)	F411L	possibly damaging	Het
Col12a1	C	T	9: 79,552,973 (GRCm39)	G2106D	probably damaging	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cox10	A	G	11: 63,855,198 (GRCm39)	L361P	probably damaging	Het
Cox18	A	G	5: 90,371,548 (GRCm39)	I84T	probably benign	Het
Dhrs3	T	C	4: 144,646,522 (GRCm39)	S125P	probably damaging	Het
Fbxl15	A	G	19: 46,317,765 (GRCm39)	H149R	probably benign	Het
Flg2	T	A	3: 93,127,789 (GRCm39)	S2234T	unknown	Het
Gtf2e1	A	C	16: 37,356,698 (GRCm39)		probably null	Het
H2-Q7	A	T	17: 35,658,655 (GRCm39)	S98C	probably damaging	Het
Hcn2	G	T	10: 79,569,607 (GRCm39)	E536*	probably null	Het
Kat6b	A	T	14: 21,720,748 (GRCm39)	H1700L	probably damaging	Het
Klhl3	C	T	13: 58,248,192 (GRCm39)	V35I	probably benign	Het
Krt34	A	T	11: 99,930,916 (GRCm39)	L162Q	probably damaging	Het
Ly9	A	G	1: 171,416,663 (GRCm39)	S644P	probably damaging	Het
Magi1	A	T	6: 93,676,620 (GRCm39)	V685E	probably damaging	Het
Malrd1	A	G	2: 15,531,408 (GRCm39)		probably benign	Het
Malrd1	A	T	2: 15,672,740 (GRCm39)	H599L	probably benign	Het
Matn2	T	A	15: 34,426,380 (GRCm39)	C631S	probably damaging	Het
Megf8	A	T	7: 25,049,120 (GRCm39)	D1739V	probably damaging	Het
Mlf1	G	A	3: 67,300,277 (GRCm39)	R98Q	probably benign	Het
Mprip	T	A	11: 59,649,815 (GRCm39)	I1173K	possibly damaging	Het
Mrc1	A	G	2: 14,275,016 (GRCm39)	D439G	probably damaging	Het
Mroh5	A	T	15: 73,662,691 (GRCm39)	W208R	probably damaging	Het
Ms4a5	T	G	19: 11,256,646 (GRCm39)	I84L	probably benign	Het
Myt1	G	A	2: 181,405,218 (GRCm39)		probably null	Het
Nbea	T	A	3: 55,907,990 (GRCm39)	H1374L	probably damaging	Het
Nbeal1	T	A	1: 60,292,633 (GRCm39)	I1095K	probably benign	Het
Nolc1	A	G	19: 46,071,509 (GRCm39)		probably benign	Het
Nr5a2	A	G	1: 136,887,976 (GRCm39)	L18P	probably benign	Het
Nup188	G	T	2: 30,212,199 (GRCm39)	C562F	probably damaging	Het
Obscn	A	G	11: 58,971,597 (GRCm39)	V2415A	probably damaging	Het
Pacsin2	A	T	15: 83,263,879 (GRCm39)		probably null	Het
Pias3	A	G	3: 96,606,839 (GRCm39)	H34R	possibly damaging	Het
Ppfia2	T	C	10: 106,729,361 (GRCm39)	V903A	probably damaging	Het
Pramel1	T	A	4: 143,123,275 (GRCm39)	L84Q	probably damaging	Het
Pramel6	G	A	2: 87,339,782 (GRCm39)	C182Y	probably damaging	Het
Prdm4	A	G	10: 85,743,896 (GRCm39)	Y120H	probably damaging	Het
Prss28	A	G	17: 25,530,331 (GRCm39)	M212V	probably benign	Het
Rbp3	G	T	14: 33,677,224 (GRCm39)	G391*	probably null	Het
Rc3h2	C	T	2: 37,301,151 (GRCm39)		probably null	Het
Ret	A	G	6: 118,150,582 (GRCm39)	F645L	probably benign	Het
Saxo5	T	C	8: 3,529,268 (GRCm39)	L251P	probably damaging	Het
Sgsm2	A	G	11: 74,755,995 (GRCm39)	S402P	possibly damaging	Het
Shc3	T	A	13: 51,636,915 (GRCm39)		probably null	Het
Slc25a16	A	G	10: 62,776,938 (GRCm39)	N246S	probably benign	Het
Snrpd1	T	A	18: 10,623,694 (GRCm39)	H26Q	probably benign	Het
Thsd1	A	G	8: 22,733,363 (GRCm39)	T137A	probably damaging	Het
Tnik	A	T	3: 28,593,597 (GRCm39)	H151L	probably damaging	Het
Tns1	T	A	1: 73,957,209 (GRCm39)	K1725N	probably damaging	Het
Tomm40l	T	A	1: 171,048,161 (GRCm39)	T147S	probably damaging	Het
Tomm6	G	T	17: 47,998,932 (GRCm39)		probably benign	Het
Trp53	G	A	11: 69,480,440 (GRCm39)	C272Y	probably damaging	Het
Trpm7	A	T	2: 126,649,214 (GRCm39)	V1492E	probably benign	Het
Tsen2	G	A	6: 115,536,592 (GRCm39)	R116H	probably benign	Het
Vmn1r86	A	T	7: 12,836,279 (GRCm39)	M199K	possibly damaging	Het
Vmn2r4	C	T	3: 64,317,378 (GRCm39)	C120Y	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
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
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
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'- TAGCCAGAGCAGAGGTTACG -3'
(R):5'- CCATTAAATGCTGTGCCTCG -3'

Sequencing Primer
(F):5'- CCAGAGCAGAGGTTACGTTACAC -3'
(R):5'- GCTGTGCCTCGGCTGTAG -3'

Posted On

2018-05-21