Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Uvrag'

194472

Institutional Source

Beutler Lab

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 #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98535949-98790373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98748601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 117 (I117T)

Ref Sequence

ENSEMBL: ENSMUSP00000146640 (fasta)

Gene Model

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

AlphaFold

Q8K245

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037968
AA Change: I117T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045297
Gene: ENSMUSG00000035354
AA Change: I117T

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 damaging
Transcript: ENSMUST00000208992
AA Change: I117T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,743,754 (GRCm39)	N128S	possibly damaging	Het
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Adgrf5	A	T	17: 43,761,455 (GRCm39)	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Alk	T	A	17: 72,207,693 (GRCm39)	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,169,727 (GRCm39)		probably null	Het
Bpifa6	A	G	2: 153,829,147 (GRCm39)	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cckbr	A	T	7: 105,083,758 (GRCm39)	I229F	possibly damaging	Het
Cers3	A	G	7: 66,433,151 (GRCm39)	K156R	probably damaging	Het
Chd1	T	A	17: 15,990,565 (GRCm39)	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,282,869 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Dis3	A	T	14: 99,321,578 (GRCm39)	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,373,880 (GRCm39)	H270R	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Focad	G	T	4: 88,275,705 (GRCm39)	V1105L	unknown	Het
Fzd1	A	G	5: 4,806,812 (GRCm39)	Y257H	probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm11938	G	A	11: 99,494,071 (GRCm39)	S8F	unknown	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,251,566 (GRCm39)	D993G	possibly damaging	Het
Jhy	T	C	9: 40,872,444 (GRCm39)	R22G	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,468,199 (GRCm39)	S115L	probably damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12j3	T	C	7: 139,953,389 (GRCm39)	I45V	possibly damaging	Het
Or52r1	T	A	7: 102,536,833 (GRCm39)	I176F	probably damaging	Het
Or8k3b	A	G	2: 86,520,728 (GRCm39)	M197T	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Prss22	T	A	17: 24,215,331 (GRCm39)	E148D	probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rnf26rt	A	T	6: 76,474,588 (GRCm39)	N9K	unknown	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Slco5a1	T	C	1: 13,059,839 (GRCm39)	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,418,274 (GRCm39)	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,304,951 (GRCm39)	D262V	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tjp1	A	G	7: 64,962,301 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Usp42	A	T	5: 143,700,621 (GRCm39)	V1134E	possibly damaging	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,800,840 (GRCm39)	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,689,058 (GRCm39)	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,301,348 (GRCm39)	S398A	possibly 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
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'- AGATCCTCTGGGTTCCTTTCTGCTAC -3'
(R):5'- GAGCCACCTCATCAGCCTCTCT -3'

Sequencing Primer
(F):5'- caatcctcctgcctgttcc -3'
(R):5'- TCAGCCTCTCTTTTAGATTGAAAAC -3'

Posted On

2014-05-23