Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Ung'

183660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ung

Ensembl Gene

ENSMUSG00000029591

Gene Name

uracil DNA glycosylase

Synonyms

UNG1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.920) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

114268447-114277384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114274447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 173 (D173E)

Ref Sequence

ENSEMBL: ENSMUSP00000099644 (fasta)

Gene Model

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

AlphaFold

P97931

Predicted Effect

probably benign
Transcript: ENSMUST00000031587
AA Change: D184E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031587
Gene: ENSMUSG00000029591
AA Change: D184E

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: ENSMUST00000102584
AA Change: D173E

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099644
Gene: ENSMUSG00000029591
AA Change: D173E

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
AA Change: D77E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107894
Gene: ENSMUSG00000029591
AA Change: D77E

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: ENSMUST00000137402
AA Change: D87E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114140
Gene: ENSMUSG00000029591
AA Change: D87E

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

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,401,302 (GRCm39)		probably benign	Het
AI661453	C	A	17: 47,779,442 (GRCm39)		probably benign	Het
Arhgap29	G	A	3: 121,807,977 (GRCm39)	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,577,862 (GRCm39)	S1029P	probably benign	Het
Arpc5l	T	C	2: 38,898,226 (GRCm39)	S7P	probably damaging	Het
Asf1b	A	G	8: 84,682,533 (GRCm39)	I26V	probably benign	Het
Cep95	T	C	11: 106,697,197 (GRCm39)	L240P	probably damaging	Het
Cnmd	A	G	14: 79,879,508 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,180,846 (GRCm39)	N783I	probably damaging	Het
Col6a2	C	A	10: 76,440,676 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,907,607 (GRCm39)		probably null	Het
Cry2	T	C	2: 92,254,977 (GRCm39)	E126G	probably benign	Het
Cxcl15	T	C	5: 90,942,467 (GRCm39)	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,465,952 (GRCm39)	D510G	probably benign	Het
Dct	A	G	14: 118,271,655 (GRCm39)	F392L	probably damaging	Het
Dgkz	A	G	2: 91,764,395 (GRCm39)		probably benign	Het
Dhrs7b	A	G	11: 60,721,541 (GRCm39)	I2V	probably benign	Het
Efnb3	A	T	11: 69,447,730 (GRCm39)		probably null	Het
Fbf1	T	A	11: 116,041,846 (GRCm39)	R565S	probably null	Het
Gimap5	T	C	6: 48,729,727 (GRCm39)	I99T	probably damaging	Het
Gm9912	A	G	3: 148,891,085 (GRCm39)	L16P	unknown	Het
Gpr17	A	G	18: 32,080,187 (GRCm39)	L292P	probably damaging	Het
Hdac10	C	T	15: 89,011,801 (GRCm39)	V129M	probably damaging	Het
Mfap3l	A	G	8: 61,124,498 (GRCm39)	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,537,457 (GRCm39)	S86R	probably damaging	Het
Mylk3	A	G	8: 86,085,890 (GRCm39)	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567 (GRCm39)	C745S	probably damaging	Het
Nudt13	A	T	14: 20,356,385 (GRCm39)	E103D	probably damaging	Het
Or10ag59	A	G	2: 87,405,806 (GRCm39)	Y126C	probably damaging	Het
Or1e35	A	G	11: 73,798,261 (GRCm39)	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,764,687 (GRCm39)	A324S	probably benign	Het
Pofut2	T	C	10: 77,096,515 (GRCm39)	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,286,240 (GRCm39)	D821G	probably damaging	Het
Rnf10	T	A	5: 115,389,161 (GRCm39)	K273*	probably null	Het
Slc4a9	A	G	18: 36,672,828 (GRCm39)	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,751,015 (GRCm39)	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,380,883 (GRCm39)	T159S	probably benign	Het
Tom1l1	G	A	11: 90,540,687 (GRCm39)	P327S	probably damaging	Het
Trim3	A	G	7: 105,267,689 (GRCm39)		probably benign	Het
Trpm6	A	C	19: 18,807,691 (GRCm39)		probably benign	Het
Ttc13	A	C	8: 125,415,621 (GRCm39)	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,713,118 (GRCm39)	V60E	probably damaging	Het
Zbtb5	A	G	4: 44,995,294 (GRCm39)	V30A	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
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
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

Posted On

2014-05-07