Incidental Mutation 'R1219:Ung'
| ID |
99903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ung
|
| Ensembl Gene |
ENSMUSG00000029591 |
| Gene Name |
uracil DNA glycosylase |
| Synonyms |
UNG1 |
| MMRRC Submission |
039288-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
R1219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114268447-114277384 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 114270228 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
|
| 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 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 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
|
| 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 benign
Transcript: ENSMUST00000149418
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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 |
|---|
| Atad2 |
A |
G |
15: 57,998,307 (GRCm39) |
S22P |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,862,927 (GRCm39) |
T1336S |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,000,619 (GRCm39) |
L1266* |
probably null |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
T |
C |
8: 96,264,895 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,802,040 (GRCm39) |
|
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,994,075 (GRCm39) |
I41T |
probably damaging |
Het |
| Dcun1d3 |
G |
T |
7: 119,458,631 (GRCm39) |
Q135K |
probably damaging |
Het |
| Dnah7b |
A |
C |
1: 46,379,280 (GRCm39) |
E3671D |
probably benign |
Het |
| Eea1 |
A |
G |
10: 95,846,623 (GRCm39) |
|
probably benign |
Het |
| Entrep3 |
T |
C |
3: 89,091,155 (GRCm39) |
V42A |
probably damaging |
Het |
| Gdf10 |
G |
A |
14: 33,654,710 (GRCm39) |
A406T |
probably benign |
Het |
| Gm5111 |
A |
G |
6: 48,567,328 (GRCm39) |
|
probably benign |
Het |
| Golga3 |
G |
T |
5: 110,332,215 (GRCm39) |
E50* |
probably null |
Het |
| Junb |
T |
C |
8: 85,704,268 (GRCm39) |
E264G |
probably damaging |
Het |
| Kash5 |
A |
G |
7: 44,838,832 (GRCm39) |
|
probably benign |
Het |
| Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
| Krt18 |
T |
C |
15: 101,939,723 (GRCm39) |
|
probably benign |
Het |
| Man1a |
G |
A |
10: 53,795,249 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
G |
T |
2: 119,849,831 (GRCm39) |
G768* |
probably null |
Het |
| Mybpc2 |
A |
C |
7: 44,165,458 (GRCm39) |
|
probably null |
Het |
| Nectin3 |
A |
T |
16: 46,275,042 (GRCm39) |
C238* |
probably null |
Het |
| Ntf3 |
G |
T |
6: 126,079,174 (GRCm39) |
R98S |
possibly damaging |
Het |
| Nup153 |
T |
G |
13: 46,840,695 (GRCm39) |
Q971P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,146,822 (GRCm39) |
T221A |
possibly damaging |
Het |
| Ppp2r1b |
T |
C |
9: 50,778,621 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
A |
T |
12: 50,435,125 (GRCm39) |
V534E |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,028,799 (GRCm39) |
E26G |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,327,003 (GRCm39) |
N1663K |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,882,146 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
T |
C |
9: 15,634,832 (GRCm39) |
Y125H |
probably damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,202,772 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
T |
14: 30,862,578 (GRCm39) |
|
probably null |
Het |
| Sumf2 |
G |
T |
5: 129,883,613 (GRCm39) |
A164S |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,160 (GRCm39) |
D420G |
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,459,831 (GRCm39) |
D56G |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,828,023 (GRCm39) |
Y2181C |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,135 (GRCm39) |
T93I |
possibly damaging |
Het |
| Vmn2r14 |
A |
C |
5: 109,372,440 (GRCm39) |
S17A |
probably benign |
Het |
| Vmn2r25 |
A |
G |
6: 123,816,282 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,495,070 (GRCm39) |
|
probably null |
Het |
| Zfp646 |
G |
A |
7: 127,482,292 (GRCm39) |
G1490S |
probably benign |
Het |
| Zfp839 |
A |
G |
12: 110,834,707 (GRCm39) |
D654G |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCAACCTCAGATTCTGTGCTATG -3'
(R):5'- CCTGCGTTGCCTACACTCAATAGAC -3'
Sequencing Primer
(F):5'- TGTGAAATGAAAATAGTCCAGCCC -3'
(R):5'- ACAGCTTTCTACCCGGAAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation