Incidental Mutation 'R3618:Ogg1'
| ID |
268514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ogg1
|
| Ensembl Gene |
ENSMUSG00000030271 |
| Gene Name |
8-oxoguanine DNA-glycosylase 1 |
| Synonyms |
Mmh |
| MMRRC Submission |
040675-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R3618 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113303959-113311149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113305334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 49
(E49G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032406]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000136263]
[ENSMUST00000204834]
[ENSMUST00000203577]
[ENSMUST00000204198]
[ENSMUST00000204626]
|
| AlphaFold |
O08760 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032406
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271
AA Change: E49G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OGG_N
|
25 |
141 |
4e-38 |
PFAM |
|
ENDO3c
|
146 |
316 |
4.84e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113117
|
| SMART Domains |
Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
105 |
254 |
1e-35 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
762 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1090 |
N/A |
INTRINSIC |
|
PWWP
|
1115 |
1198 |
4.1e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113119
|
| SMART Domains |
Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
8.5e-39 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
|
PWWP
|
1116 |
1199 |
4.1e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113121
|
| SMART Domains |
Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
105 |
254 |
5.5e-36 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1020 |
N/A |
INTRINSIC |
|
PWWP
|
1082 |
1165 |
4.1e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113122
|
| SMART Domains |
Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
105 |
254 |
5.5e-36 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
762 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1019 |
N/A |
INTRINSIC |
|
PWWP
|
1081 |
1164 |
4.1e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154350
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136263
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271
AA Change: E49G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OGG_N
|
25 |
130 |
3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204834
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271
AA Change: E49G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OGG_N
|
25 |
134 |
1.2e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203577
|
| SMART Domains |
Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
5.1e-36 |
PFAM |
|
PHD
|
274 |
320 |
4.9e-12 |
SMART |
|
PHD
|
384 |
447 |
6.8e-10 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
739 |
1.3e-34 |
SMART |
|
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1096 |
N/A |
INTRINSIC |
|
PWWP
|
1121 |
1204 |
2.6e-44 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203721
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204198
|
| SMART Domains |
Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
4.4e-36 |
PFAM |
|
PHD
|
274 |
320 |
4.9e-12 |
SMART |
|
PHD
|
384 |
447 |
6.8e-10 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1e-39 |
SMART |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
925 |
N/A |
INTRINSIC |
|
PWWP
|
987 |
1070 |
2.6e-44 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204626
|
| SMART Domains |
Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
4.9e-36 |
PFAM |
|
PHD
|
274 |
320 |
4.9e-12 |
SMART |
|
PHD
|
384 |
447 |
6.8e-10 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
739 |
1.3e-34 |
SMART |
|
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1025 |
N/A |
INTRINSIC |
|
PWWP
|
1087 |
1170 |
2.6e-44 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147945
|
| SMART Domains |
Protein: ENSMUSP00000116265
Gene: ENSMUSG00000030271
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ENDO3c
|
7 |
75 |
7e-46 |
BLAST |
|
PDB:1KO9|A
|
7 |
104 |
1e-55 |
PDB |
|
SCOP:d1ko9a1
|
8 |
82 |
1e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to accumulation of 8-hydroxyguanine and altered DNA repair. Mice homozygous for a knock-out allele remain healthy until at least 18 months of age. Mice homozygous for another knock-out allele develop spontaneouslung adenoma/carcinoma at ~1.5 years of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
| Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
| Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
| Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
| Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
| Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
| Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
| Inava |
A |
C |
1: 136,142,110 (GRCm39) |
V663G |
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
| Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
| Larp1 |
A |
T |
11: 57,948,172 (GRCm39) |
E990D |
probably benign |
Het |
| Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
| Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
| Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
| Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
| Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tbcel |
T |
C |
9: 42,372,591 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
| Uba2 |
A |
G |
7: 33,853,907 (GRCm39) |
|
probably null |
Het |
| Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
| Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly damaging |
Het |
|
| Other mutations in Ogg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03171:Ogg1
|
APN |
6 |
113,310,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03180:Ogg1
|
APN |
6 |
113,310,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0270:Ogg1
|
UTSW |
6 |
113,306,217 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Ogg1
|
UTSW |
6 |
113,305,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Ogg1
|
UTSW |
6 |
113,306,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Ogg1
|
UTSW |
6 |
113,310,804 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4609:Ogg1
|
UTSW |
6 |
113,305,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4673:Ogg1
|
UTSW |
6 |
113,304,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Ogg1
|
UTSW |
6 |
113,306,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Ogg1
|
UTSW |
6 |
113,306,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGAGAAACCCTGTCTCG -3'
(R):5'- CTTTGGAAGTGGGAGTCTACAGAAG -3'
Sequencing Primer
(F):5'- CCTGTCTCGGGGAAAAAGAAAG -3'
(R):5'- TATACAGCTGTGCCAGGCTGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation