Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Ung'

541359

Institutional Source

Beutler Lab

Gene Symbol

Ung

Ensembl Gene

ENSMUSG00000029591

Gene Name

uracil DNA glycosylase

Synonyms

UNG1

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114268447-114277384 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114269398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 37 (A37S)

Ref Sequence

ENSEMBL: ENSMUSP00000142484 (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: A48S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031587
Gene: ENSMUSG00000029591
AA Change: A48S

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 benign
Transcript: ENSMUST00000102584
AA Change: A37S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099644
Gene: ENSMUSG00000029591
AA Change: A37S

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 benign
Transcript: ENSMUST00000143455
AA Change: A37S

PolyPhen 2 Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142484
Gene: ENSMUSG00000029591
AA Change: A37S

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: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,380,739 (GRCm39)	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,788,124 (GRCm39)	D566G	probably benign	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Nup205	T	A	6: 35,185,044 (GRCm39)	V768E	possibly damaging	Het
Or4k6	A	T	14: 50,475,567 (GRCm39)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,388,973 (GRCm39)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	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
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'- TGTTTTGCCGCGAAAAGCC -3'
(R):5'- ATCGTTGTCAAGTGTGGCAC -3'

Sequencing Primer
(F):5'- GCGAAAAGCCTGCGTGG -3'
(R):5'- TTGTCAAGTGTGGCACGGAAAG -3'

Posted On

2018-11-28