Mutagenetix > Incidental Mutation

Incidental Mutation 'R7288:Ung'

566151

Institutional Source

Beutler Lab

Gene Symbol

Ung

Ensembl Gene

ENSMUSG00000029591

Gene Name

uracil DNA glycosylase

Synonyms

UNG1

MMRRC Submission

045395-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R7288 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114268447-114277384 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 114269315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 9 (L9*)

Ref Sequence

ENSEMBL: ENSMUSP00000099644 (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

SMART Domains

Protein: ENSMUSP00000031587
Gene: ENSMUSG00000029591

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 benign
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 null
Transcript: ENSMUST00000102584
AA Change: L9*

SMART Domains

Protein: ENSMUSP00000099644
Gene: ENSMUSG00000029591
AA Change: L9*

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 benign
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 null
Transcript: ENSMUST00000143455
AA Change: L9*

SMART Domains

Protein: ENSMUSP00000142484
Gene: ENSMUSG00000029591
AA Change: L9*

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

probably benign
Transcript: ENSMUST00000149418

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,131 (GRCm39)	D204E	probably benign	Het
Adh1	T	G	3: 137,988,493 (GRCm39)	D155E	probably benign	Het
Akt1s1	T	C	7: 44,498,571 (GRCm39)	L2P	unknown	Het
Ash1l	T	A	3: 88,873,199 (GRCm39)		probably benign	Het
Bend7	C	T	2: 4,757,641 (GRCm39)	P228S	probably damaging	Het
Bpifc	T	C	10: 85,824,585 (GRCm39)	E218G	possibly damaging	Het
Cdk6	T	A	5: 3,479,001 (GRCm39)	F127Y	probably benign	Het
Cgnl1	A	T	9: 71,632,846 (GRCm39)	H168Q	possibly damaging	Het
Chd7	C	T	4: 8,847,093 (GRCm39)	T1612I	possibly damaging	Het
Col4a4	A	T	1: 82,470,184 (GRCm39)	C782S	unknown	Het
Copg2	T	A	6: 30,801,341 (GRCm39)	I364L	probably damaging	Het
Crygb	A	G	1: 65,121,084 (GRCm39)	L81P	probably benign	Het
Cyp4f18	A	T	8: 72,747,017 (GRCm39)	M326K	probably damaging	Het
Dhx34	A	G	7: 15,949,361 (GRCm39)	S356P	probably benign	Het
Dmbt1	C	T	7: 130,685,519 (GRCm39)	Q855*	probably null	Het
Dnai3	T	C	3: 145,787,007 (GRCm39)	T343A	probably damaging	Het
Dnph1	A	G	17: 46,809,938 (GRCm39)	N160S	probably benign	Het
Esrra	A	T	19: 6,890,139 (GRCm39)	C228*	probably null	Het
Evpl	T	C	11: 116,114,775 (GRCm39)	N972D	probably benign	Het
Fat3	T	C	9: 15,909,888 (GRCm39)	D2038G	probably damaging	Het
Fhit	T	A	14: 9,763,784 (GRCm38)	R102W	probably damaging	Het
Gal3st1	A	T	11: 3,948,609 (GRCm39)	D272V	probably damaging	Het
Gal3st1	T	A	11: 3,948,651 (GRCm39)	V286D	probably damaging	Het
Gemin4	A	T	11: 76,104,206 (GRCm39)	M185K	possibly damaging	Het
Hecw1	T	C	13: 14,490,821 (GRCm39)	I311V	probably benign	Het
Ift172	T	C	5: 31,442,630 (GRCm39)	Y179C	probably damaging	Het
Ighv7-3	C	T	12: 114,116,963 (GRCm39)	W66*	probably null	Het
Iqgap3	T	A	3: 88,016,142 (GRCm39)	I975N	probably damaging	Het
Khdrbs3	A	G	15: 68,921,262 (GRCm39)	E281G	possibly damaging	Het
Lamb2	A	T	9: 108,365,523 (GRCm39)	T1369S	probably benign	Het
Mettl8	A	T	2: 70,812,382 (GRCm39)	D84E	probably benign	Het
Mrgprb3	C	A	7: 48,293,059 (GRCm39)	C164F	probably damaging	Het
Mtg2	A	G	2: 179,725,180 (GRCm39)	Y131C	probably damaging	Het
Nacc1	C	T	8: 85,403,174 (GRCm39)	A234T	probably benign	Het
Nsmaf	C	T	4: 6,416,641 (GRCm39)	V551I	probably benign	Het
Or13a26	T	A	7: 140,284,942 (GRCm39)	C259*	probably null	Het
Or7e175	T	A	9: 20,048,737 (GRCm39)	Y108*	probably null	Het
Oxr1	C	T	15: 41,677,004 (GRCm39)	P187L	not run	Het
Pcdhb12	T	A	18: 37,569,068 (GRCm39)	D71E	probably benign	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pkm	A	G	9: 59,576,196 (GRCm39)	S127G	probably benign	Het
Plxna2	T	A	1: 194,479,227 (GRCm39)	L1296H	probably damaging	Het
Ppil6	C	G	10: 41,374,524 (GRCm39)	T135R	probably benign	Het
Ppp2r3d	T	C	9: 101,004,203 (GRCm39)	Y378C	probably damaging	Het
Rabep2	C	T	7: 126,043,377 (GRCm39)	R426C	probably damaging	Het
Rad21	A	T	15: 51,845,976 (GRCm39)	H31Q	possibly damaging	Het
Rad50	G	T	11: 53,545,776 (GRCm39)	Y1182*	probably null	Het
Serpinb9c	C	T	13: 33,335,883 (GRCm39)	A218T	possibly damaging	Het
Slc34a1	C	A	13: 24,003,095 (GRCm39)	H248Q	probably benign	Het
Slc45a4	C	A	15: 73,458,785 (GRCm39)	E255*	probably null	Het
Slc8a3	T	A	12: 81,263,598 (GRCm39)	K596N	possibly damaging	Het
Tbc1d32	A	C	10: 55,927,483 (GRCm39)		probably null	Het
Tbl2	T	A	5: 135,183,253 (GRCm39)	I112N	possibly damaging	Het
Tchp	A	C	5: 114,853,630 (GRCm39)	K238T	probably damaging	Het
Tfap2d	G	A	1: 19,189,207 (GRCm39)	G251D	probably damaging	Het
Thrb	T	A	14: 18,030,186 (GRCm38)	M324K	probably damaging	Het
Tmem259	A	T	10: 79,814,300 (GRCm39)	L328Q	probably damaging	Het
Tmtc2	T	C	10: 105,249,469 (GRCm39)	H88R	probably damaging	Het
Tnfrsf21	A	G	17: 43,348,709 (GRCm39)	H107R	possibly damaging	Het
Trib1	T	C	15: 59,526,471 (GRCm39)	V347A	probably benign	Het
Vmn1r195	G	T	13: 22,463,174 (GRCm39)	V215F	probably damaging	Het
Wdr90	A	G	17: 26,065,286 (GRCm39)	S1657P	probably benign	Het
Wdsub1	A	T	2: 59,708,487 (GRCm39)	Y129N	possibly damaging	Het
Zfp369	T	G	13: 65,432,832 (GRCm39)		probably null	Het
Zfp770	G	T	2: 114,026,142 (GRCm39)	C642*	probably null	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het
Zhx3	A	C	2: 160,623,042 (GRCm39)	V375G	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
R4079: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
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'- CCTCAGAGTCAATCGGTGTG -3'
(R):5'- TCGTTGTCAAGTGTGGCACG -3'

Sequencing Primer
(F):5'- GCCCTTGTATAGTCCAATC -3'
(R):5'- TTCCAGCTCTCGCCGAAG -3'

Posted On

2019-06-26