Incidental Mutation 'IGL01482:Tdp1'
ID |
88658 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tdp1
|
Ensembl Gene |
ENSMUSG00000021177 |
Gene Name |
tyrosyl-DNA phosphodiesterase 1 |
Synonyms |
4921509N21Rik, SCAN1, 2810481F14Rik, E430034L06Rik, Gm40556 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
IGL01482
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
99850776-99921478 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99857639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 66
(N66S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021594]
[ENSMUST00000137653]
[ENSMUST00000153627]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021594
AA Change: N66S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000021594 Gene: ENSMUSG00000021177 AA Change: N66S
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Tyr-DNA_phospho
|
164 |
583 |
2.7e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125639
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137653
|
SMART Domains |
Protein: ENSMUSP00000123269 Gene: ENSMUSG00000021177
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151019
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153627
AA Change: N66S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118656 Gene: ENSMUSG00000021177 AA Change: N66S
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Tyr-DNA_phospho
|
166 |
583 |
2.4e-142 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221396
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016] PHENOTYPE: Mice homozygous for a null allele exhibit defective single strand DNA repair in neurons, decreased cerebellum size and increased sensitivity to topotecan. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
A |
T |
1: 120,099,201 (GRCm39) |
D98V |
probably benign |
Het |
Aatf |
G |
A |
11: 84,361,536 (GRCm39) |
R356C |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 119,981,969 (GRCm39) |
T1095S |
probably benign |
Het |
Abca9 |
A |
G |
11: 110,011,599 (GRCm39) |
F1148S |
probably benign |
Het |
Adam12 |
G |
T |
7: 133,569,577 (GRCm39) |
D299E |
probably damaging |
Het |
Alyref |
A |
T |
11: 120,486,762 (GRCm39) |
N166K |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,710,790 (GRCm39) |
I714N |
probably benign |
Het |
Bves |
A |
G |
10: 45,230,902 (GRCm39) |
E291G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,500,692 (GRCm39) |
N183S |
possibly damaging |
Het |
Dennd2a |
T |
C |
6: 39,457,243 (GRCm39) |
H733R |
probably damaging |
Het |
Erbb3 |
C |
T |
10: 128,408,798 (GRCm39) |
G762S |
possibly damaging |
Het |
Gm29326 |
A |
C |
7: 29,260,136 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2l |
A |
T |
16: 96,239,948 (GRCm39) |
L17Q |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,567,937 (GRCm39) |
D668E |
probably benign |
Het |
Ksr1 |
G |
A |
11: 78,927,409 (GRCm39) |
T308I |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,378,583 (GRCm39) |
D177G |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,267,162 (GRCm39) |
R579C |
probably damaging |
Het |
Muc2 |
A |
T |
7: 141,307,797 (GRCm39) |
I369F |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,242,894 (GRCm39) |
M936L |
probably benign |
Het |
Nckap5 |
G |
T |
1: 125,950,897 (GRCm39) |
S1598Y |
probably damaging |
Het |
Nlrp10 |
T |
A |
7: 108,526,159 (GRCm39) |
M60L |
probably benign |
Het |
Nlrp12 |
T |
C |
7: 3,283,790 (GRCm39) |
N739S |
possibly damaging |
Het |
Or5p58 |
A |
C |
7: 107,694,693 (GRCm39) |
V28G |
probably benign |
Het |
Pappa |
A |
T |
4: 65,074,271 (GRCm39) |
H275L |
probably benign |
Het |
Plekhm2 |
A |
G |
4: 141,357,340 (GRCm39) |
S711P |
probably damaging |
Het |
Ptpn1 |
G |
A |
2: 167,809,712 (GRCm39) |
V107M |
probably damaging |
Het |
Ptprf |
G |
A |
4: 118,069,651 (GRCm39) |
R1498C |
probably damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,034,037 (GRCm39) |
I396T |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,751,762 (GRCm39) |
F3668S |
probably damaging |
Het |
Serpinb6d |
T |
C |
13: 33,855,346 (GRCm39) |
V340A |
probably benign |
Het |
Silc1 |
T |
A |
12: 27,191,893 (GRCm39) |
|
noncoding transcript |
Het |
Spaca3 |
G |
T |
11: 80,758,510 (GRCm39) |
V158L |
probably benign |
Het |
Tmem132d |
A |
T |
5: 128,346,270 (GRCm39) |
I84N |
probably damaging |
Het |
Uggt2 |
T |
A |
14: 119,295,057 (GRCm39) |
D523V |
probably damaging |
Het |
Usp17la |
A |
T |
7: 104,508,600 (GRCm39) |
M1L |
probably benign |
Het |
Yeats2 |
C |
T |
16: 20,041,671 (GRCm39) |
T1202I |
probably damaging |
Het |
|
Other mutations in Tdp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00780:Tdp1
|
APN |
12 |
99,859,907 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL01099:Tdp1
|
APN |
12 |
99,881,704 (GRCm39) |
splice site |
probably benign |
|
IGL01295:Tdp1
|
APN |
12 |
99,857,929 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01409:Tdp1
|
APN |
12 |
99,875,940 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03116:Tdp1
|
APN |
12 |
99,921,290 (GRCm39) |
missense |
probably benign |
0.27 |
BB004:Tdp1
|
UTSW |
12 |
99,878,555 (GRCm39) |
missense |
probably damaging |
1.00 |
BB014:Tdp1
|
UTSW |
12 |
99,878,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R0008:Tdp1
|
UTSW |
12 |
99,921,217 (GRCm39) |
splice site |
probably benign |
|
R0033:Tdp1
|
UTSW |
12 |
99,901,311 (GRCm39) |
missense |
probably benign |
0.30 |
R0092:Tdp1
|
UTSW |
12 |
99,921,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R0485:Tdp1
|
UTSW |
12 |
99,876,101 (GRCm39) |
missense |
probably benign |
0.30 |
R0611:Tdp1
|
UTSW |
12 |
99,875,970 (GRCm39) |
missense |
probably benign |
|
R0853:Tdp1
|
UTSW |
12 |
99,901,326 (GRCm39) |
missense |
probably damaging |
0.96 |
R1539:Tdp1
|
UTSW |
12 |
99,878,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R1692:Tdp1
|
UTSW |
12 |
99,921,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Tdp1
|
UTSW |
12 |
99,857,602 (GRCm39) |
splice site |
probably null |
|
R1767:Tdp1
|
UTSW |
12 |
99,857,602 (GRCm39) |
splice site |
probably null |
|
R3788:Tdp1
|
UTSW |
12 |
99,858,011 (GRCm39) |
splice site |
probably benign |
|
R3790:Tdp1
|
UTSW |
12 |
99,858,011 (GRCm39) |
splice site |
probably benign |
|
R3837:Tdp1
|
UTSW |
12 |
99,860,967 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3917:Tdp1
|
UTSW |
12 |
99,860,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R4209:Tdp1
|
UTSW |
12 |
99,864,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R4211:Tdp1
|
UTSW |
12 |
99,864,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R4509:Tdp1
|
UTSW |
12 |
99,921,324 (GRCm39) |
utr 3 prime |
probably benign |
|
R4774:Tdp1
|
UTSW |
12 |
99,868,623 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4859:Tdp1
|
UTSW |
12 |
99,876,070 (GRCm39) |
missense |
probably benign |
0.20 |
R5229:Tdp1
|
UTSW |
12 |
99,859,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5348:Tdp1
|
UTSW |
12 |
99,881,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R5441:Tdp1
|
UTSW |
12 |
99,876,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5457:Tdp1
|
UTSW |
12 |
99,861,005 (GRCm39) |
nonsense |
probably null |
|
R5685:Tdp1
|
UTSW |
12 |
99,868,611 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6329:Tdp1
|
UTSW |
12 |
99,880,331 (GRCm39) |
missense |
probably benign |
0.02 |
R6329:Tdp1
|
UTSW |
12 |
99,880,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R7060:Tdp1
|
UTSW |
12 |
99,877,947 (GRCm39) |
missense |
probably benign |
0.02 |
R7066:Tdp1
|
UTSW |
12 |
99,860,991 (GRCm39) |
missense |
probably benign |
|
R7479:Tdp1
|
UTSW |
12 |
99,857,654 (GRCm39) |
missense |
probably benign |
0.00 |
R7927:Tdp1
|
UTSW |
12 |
99,878,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R8556:Tdp1
|
UTSW |
12 |
99,857,527 (GRCm39) |
missense |
probably benign |
0.07 |
R8774:Tdp1
|
UTSW |
12 |
99,877,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774-TAIL:Tdp1
|
UTSW |
12 |
99,877,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R9521:Tdp1
|
UTSW |
12 |
99,877,906 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Tdp1
|
UTSW |
12 |
99,877,892 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-11-18 |