Incidental Mutation 'IGL01099:Tdp1'
ID |
52450 |
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 # |
IGL01099
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
99850776-99921478 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 99881704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021594]
[ENSMUST00000153627]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021594
|
SMART Domains |
Protein: ENSMUSP00000021594 Gene: ENSMUSG00000021177
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: ENSMUST00000126424
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151019
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153627
|
SMART Domains |
Protein: ENSMUSP00000118656 Gene: ENSMUSG00000021177
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: ENSMUST00000220685
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,965,031 (GRCm39) |
|
probably benign |
Het |
Adam28 |
A |
G |
14: 68,874,778 (GRCm39) |
|
probably null |
Het |
Adcy10 |
A |
G |
1: 165,367,411 (GRCm39) |
I560M |
probably benign |
Het |
Alpl |
G |
A |
4: 137,470,624 (GRCm39) |
|
probably benign |
Het |
Ank1 |
G |
A |
8: 23,598,265 (GRCm39) |
G753D |
probably damaging |
Het |
Arhgef28 |
A |
T |
13: 98,090,480 (GRCm39) |
|
probably benign |
Het |
Bmp7 |
A |
T |
2: 172,717,055 (GRCm39) |
C329S |
probably damaging |
Het |
Capn13 |
T |
C |
17: 73,658,504 (GRCm39) |
D188G |
probably damaging |
Het |
Car10 |
G |
A |
11: 93,469,516 (GRCm39) |
E164K |
possibly damaging |
Het |
Cfhr1 |
T |
A |
1: 139,475,497 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
C |
T |
3: 113,905,690 (GRCm39) |
R562* |
probably null |
Het |
Colec12 |
C |
T |
18: 9,848,826 (GRCm39) |
R335C |
probably damaging |
Het |
Cyb561d2 |
C |
T |
9: 107,417,488 (GRCm39) |
|
probably null |
Het |
Epb41l3 |
A |
G |
17: 69,517,188 (GRCm39) |
D72G |
possibly damaging |
Het |
Etl4 |
T |
C |
2: 20,811,922 (GRCm39) |
L1335P |
probably benign |
Het |
F5 |
T |
G |
1: 164,021,903 (GRCm39) |
N1459K |
probably damaging |
Het |
Fam161a |
T |
C |
11: 22,965,894 (GRCm39) |
|
probably benign |
Het |
Flnc |
G |
A |
6: 29,433,617 (GRCm39) |
V54M |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,517,966 (GRCm39) |
I607V |
probably benign |
Het |
Fscb |
A |
G |
12: 64,518,875 (GRCm39) |
S864P |
unknown |
Het |
Glod4 |
T |
A |
11: 76,130,376 (GRCm39) |
K36* |
probably null |
Het |
Gm6619 |
G |
A |
6: 131,467,393 (GRCm39) |
R86Q |
possibly damaging |
Het |
Gm7052 |
T |
C |
17: 22,258,706 (GRCm39) |
|
probably benign |
Het |
Gyg1 |
A |
T |
3: 20,205,211 (GRCm39) |
M119K |
probably benign |
Het |
Ifit2 |
A |
T |
19: 34,550,702 (GRCm39) |
I81F |
probably damaging |
Het |
Insr |
T |
C |
8: 3,308,682 (GRCm39) |
Y118C |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
Kcnh3 |
T |
C |
15: 99,137,617 (GRCm39) |
S771P |
probably benign |
Het |
Kndc1 |
C |
A |
7: 139,500,700 (GRCm39) |
H688Q |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,165,591 (GRCm39) |
C330R |
probably damaging |
Het |
Naa50 |
A |
T |
16: 43,976,832 (GRCm39) |
N23I |
probably damaging |
Het |
Nt5el |
A |
T |
13: 105,245,868 (GRCm39) |
H143L |
probably benign |
Het |
Or55b4 |
T |
A |
7: 102,133,685 (GRCm39) |
D214V |
probably damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,240 (GRCm39) |
S279P |
probably damaging |
Het |
Or8b48 |
T |
C |
9: 38,493,373 (GRCm39) |
S267P |
probably benign |
Het |
Or8c16 |
T |
C |
9: 38,131,039 (GRCm39) |
S307P |
probably benign |
Het |
Pfkp |
A |
T |
13: 6,653,426 (GRCm39) |
|
probably benign |
Het |
Phlda2 |
G |
A |
7: 143,055,876 (GRCm39) |
|
probably null |
Het |
Plxnd1 |
C |
A |
6: 115,946,906 (GRCm39) |
V823L |
probably benign |
Het |
Prpf40a |
T |
A |
2: 53,031,847 (GRCm39) |
H794L |
probably benign |
Het |
Ripor2 |
A |
T |
13: 24,885,190 (GRCm39) |
H436L |
probably benign |
Het |
Rnf138 |
T |
A |
18: 21,153,970 (GRCm39) |
C159S |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,514,582 (GRCm39) |
V1064D |
probably damaging |
Het |
Slc12a2 |
T |
A |
18: 58,039,092 (GRCm39) |
C557* |
probably null |
Het |
Slc1a6 |
T |
C |
10: 78,624,831 (GRCm39) |
S79P |
possibly damaging |
Het |
Snapin |
G |
A |
3: 90,397,909 (GRCm39) |
|
probably benign |
Het |
Tigar |
G |
T |
6: 127,065,108 (GRCm39) |
A180E |
probably benign |
Het |
Trav6-2 |
A |
T |
14: 52,905,122 (GRCm39) |
T48S |
probably benign |
Het |
Ttn |
A |
G |
2: 76,558,776 (GRCm39) |
Y29702H |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,854,686 (GRCm39) |
S689P |
probably damaging |
Het |
Vmn1r40 |
A |
T |
6: 89,691,578 (GRCm39) |
I132F |
probably damaging |
Het |
Vmn1r85 |
T |
A |
7: 12,818,461 (GRCm39) |
K228* |
probably null |
Het |
Wdr33 |
C |
A |
18: 32,039,842 (GRCm39) |
|
probably benign |
Het |
Ybx2 |
A |
T |
11: 69,831,556 (GRCm39) |
Q136L |
probably damaging |
Het |
Ypel1 |
T |
A |
16: 16,909,076 (GRCm39) |
M368L |
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 |
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 |
IGL01482:Tdp1
|
APN |
12 |
99,857,639 (GRCm39) |
missense |
probably benign |
|
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 |
2013-06-21 |