Incidental Mutation 'R3414:Top1mt'
| ID |
266746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top1mt
|
| Ensembl Gene |
ENSMUSG00000000934 |
| Gene Name |
DNA topoisomerase 1, mitochondrial |
| Synonyms |
2900052H09Rik |
| MMRRC Submission |
040632-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R3414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
75528884-75550649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75529025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 573
(N573S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000958]
|
| AlphaFold |
Q8R4U6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000958
AA Change: N573S
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000000958
Gene: ENSMUSG00000000934
AA Change: N573S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TOPEUc
|
72 |
150 |
4e-38 |
BLAST |
|
low complexity region
|
151 |
166 |
N/A |
INTRINSIC |
|
TOPEUc
|
189 |
565 |
5.86e-230 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184801
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a null allele display increased oxidative stress and lipid peroxidation, enhanced glycolysis, and mitochondrial abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
| Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
| Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
| Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
| Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
| Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
probably damaging |
Het |
|
| Other mutations in Top1mt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01925:Top1mt
|
APN |
15 |
75,528,992 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02111:Top1mt
|
APN |
15 |
75,537,555 (GRCm39) |
splice site |
probably benign |
|
|
IGL02425:Top1mt
|
APN |
15 |
75,547,970 (GRCm39) |
missense |
probably benign |
|
|
IGL02662:Top1mt
|
APN |
15 |
75,540,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1240:Top1mt
|
UTSW |
15 |
75,541,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1438:Top1mt
|
UTSW |
15 |
75,546,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Top1mt
|
UTSW |
15 |
75,538,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1884:Top1mt
|
UTSW |
15 |
75,539,750 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3413:Top1mt
|
UTSW |
15 |
75,529,025 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4677:Top1mt
|
UTSW |
15 |
75,535,907 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4784:Top1mt
|
UTSW |
15 |
75,547,880 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4784:Top1mt
|
UTSW |
15 |
75,529,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4791:Top1mt
|
UTSW |
15 |
75,540,474 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6339:Top1mt
|
UTSW |
15 |
75,537,505 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6723:Top1mt
|
UTSW |
15 |
75,539,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6732:Top1mt
|
UTSW |
15 |
75,541,337 (GRCm39) |
splice site |
probably null |
|
|
R6841:Top1mt
|
UTSW |
15 |
75,547,973 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6884:Top1mt
|
UTSW |
15 |
75,535,893 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7024:Top1mt
|
UTSW |
15 |
75,539,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Top1mt
|
UTSW |
15 |
75,540,560 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7055:Top1mt
|
UTSW |
15 |
75,550,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7273:Top1mt
|
UTSW |
15 |
75,535,931 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8032:Top1mt
|
UTSW |
15 |
75,540,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Top1mt
|
UTSW |
15 |
75,539,712 (GRCm39) |
nonsense |
probably null |
|
|
R8510:Top1mt
|
UTSW |
15 |
75,541,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9469:Top1mt
|
UTSW |
15 |
75,539,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Top1mt
|
UTSW |
15 |
75,539,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9697:Top1mt
|
UTSW |
15 |
75,547,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Top1mt
|
UTSW |
15 |
75,528,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTTGTTCTAGGTCACAG -3'
(R):5'- TTGCTCAGTGGCTAGCTAGG -3'
Sequencing Primer
(F):5'- GTGACAAACACCTTCCCCCG -3'
(R):5'- CCATACCAGGGATGTCATGATACG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation