Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Ung'

368272

Institutional Source

Beutler Lab

Gene Symbol

Ung

Ensembl Gene

ENSMUSG00000029591

Gene Name

uracil DNA glycosylase

Synonyms

UNG1

MMRRC Submission

040976-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R4079 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

114268447-114277384 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 114268684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031587] [ENSMUST00000053657] [ENSMUST00000102584] [ENSMUST00000112275] [ENSMUST00000112279] [ENSMUST00000137402] [ENSMUST00000143455] [ENSMUST00000149418]

AlphaFold

P97931

Predicted Effect

probably benign
Transcript: ENSMUST00000031587
AA Change: V41L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000031587
Gene: ENSMUSG00000029591
AA Change: V41L

Domain	Start	End	E-Value	Type
low complexity region	72	81	N/A	INTRINSIC
UDG	132	293	5.86e-35	SMART
UreE_C	132	293	5.86e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000053657

SMART Domains

Protein: ENSMUSP00000056043
Gene: ENSMUSG00000044339

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	47	232	1.9e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102584

SMART Domains

Protein: ENSMUSP00000099644
Gene: ENSMUSG00000029591

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	61	70	N/A	INTRINSIC
UDG	121	282	5.86e-35	SMART
UreE_C	121	282	5.86e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112275

SMART Domains

Protein: ENSMUSP00000107894
Gene: ENSMUSG00000029591

Domain	Start	End	E-Value	Type
UDG	25	186	5.86e-35	SMART
UreE_C	25	186	5.86e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000112279

SMART Domains

Protein: ENSMUSP00000107898
Gene: ENSMUSG00000044339

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	47	232	5.4e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137402

SMART Domains

Protein: ENSMUSP00000114140
Gene: ENSMUSG00000029591

Domain	Start	End	E-Value	Type
UDG	35	184	2.05e-25	SMART
UreE_C	35	184	2.05e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000143455

SMART Domains

Protein: ENSMUSP00000142484
Gene: ENSMUSG00000029591

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
low complexity region	61	70	N/A	INTRINSIC
PDB:2SSP\|E	76	127	3e-27	PDB
SCOP:d3euga_	79	127	1e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200479

Predicted Effect

probably null
Transcript: ENSMUST00000149418

Meta Mutation Damage Score

0.0809

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mutants incorporate an elevated level of uracil into DNA of dividing cells. In hypermutation at immunoglobulin genes, mutations at C/G pairs are shifted toward transitions, and class-switch recombination is reduced. Homozygous null mutants display increased ischemic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,247,473 (GRCm39)		probably null	Het
Ankfy1	C	A	11: 72,580,835 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,720,694 (GRCm39)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Armc9	A	T	1: 86,140,851 (GRCm39)		probably benign	Het
Bnc1	T	C	7: 81,623,508 (GRCm39)	E573G	probably damaging	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 123,374,434 (GRCm39)		probably null	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdc45	A	T	16: 18,630,110 (GRCm39)	V19D	probably damaging	Het
Cfap57	C	A	4: 118,456,194 (GRCm39)	S500I	probably benign	Het
Cnga3	A	T	1: 37,280,946 (GRCm39)	Q47L	possibly damaging	Het
Corin	T	C	5: 72,661,226 (GRCm39)	D89G	probably benign	Het
Cox16	A	T	12: 81,521,109 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,006,791 (GRCm39)	N50S	probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fcer1a	C	T	1: 173,052,920 (GRCm39)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,892,120 (GRCm39)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Kpna7	A	G	5: 144,942,737 (GRCm39)	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,601,110 (GRCm39)		probably null	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,596,998 (GRCm39)	L152W	probably damaging	Het
Mog	A	G	17: 37,323,302 (GRCm39)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,439,634 (GRCm39)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,441,057 (GRCm39)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,357,236 (GRCm39)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,806,123 (GRCm39)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Or52x1	A	T	7: 104,853,228 (GRCm39)	H107Q	probably damaging	Het
Or8u10	A	G	2: 85,915,656 (GRCm39)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,908,994 (GRCm39)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phax	A	G	18: 56,709,051 (GRCm39)	N183S	possibly damaging	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptpru	A	T	4: 131,526,021 (GRCm39)		probably null	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,115,510 (GRCm39)	S693P	probably benign	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Serpina3a	C	T	12: 104,085,934 (GRCm39)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,042,543 (GRCm39)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,319,377 (GRCm39)	V254I	probably benign	Het
Speer4e2	A	T	5: 15,027,663 (GRCm39)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,572,724 (GRCm39)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tns1	G	A	1: 74,034,467 (GRCm39)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,667,537 (GRCm39)	L3P	possibly damaging	Het
Usp32	T	A	11: 84,930,055 (GRCm39)	Y574F	probably damaging	Het

Other mutations in Ung

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Ung	APN	5	114,275,369 (GRCm39)	missense	possibly damaging	0.50
IGL01995:Ung	APN	5	114,274,447 (GRCm39)	missense	probably benign	0.30
IGL02084:Ung	APN	5	114,268,637 (GRCm39)	missense	probably benign	0.00
R1219:Ung	UTSW	5	114,270,228 (GRCm39)	unclassified	probably benign
R1617:Ung	UTSW	5	114,269,415 (GRCm39)	missense	probably benign	0.14
R2513:Ung	UTSW	5	114,275,253 (GRCm39)	missense	probably benign	0.11
R4078:Ung	UTSW	5	114,268,684 (GRCm39)	splice site	probably null
R6210:Ung	UTSW	5	114,269,438 (GRCm39)	missense	probably benign	0.15
R6258:Ung	UTSW	5	114,275,361 (GRCm39)	missense	probably benign	0.12
R6954:Ung	UTSW	5	114,269,398 (GRCm39)	missense	probably benign	0.25
R7288:Ung	UTSW	5	114,269,315 (GRCm39)	nonsense	probably null
R8944:Ung	UTSW	5	114,269,456 (GRCm39)	missense	probably damaging	1.00
R9159:Ung	UTSW	5	114,270,166 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTTAGAGCTAGGACAGGTAG -3'
(R):5'- TGCACACTGATTGGCTCTGC -3'

Sequencing Primer
(F):5'- CTTTAGAGCTAGGACAGGTAGGTAGG -3'
(R):5'- ATTGGCTCTGCGGCGAC -3'

Posted On

2016-01-15