Incidental Mutation 'IGL00780:Tdp1'
ID |
14415 |
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 # |
IGL00780
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
99850776-99921478 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99859907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 198
(V198A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021594]
[ENSMUST00000137653]
[ENSMUST00000153627]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021594
AA Change: V198A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021594 Gene: ENSMUSG00000021177 AA Change: V198A
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 |
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 |
possibly damaging
Transcript: ENSMUST00000153627
AA Change: V198A
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118656 Gene: ENSMUSG00000021177 AA Change: V198A
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
Pfam:Tyr-DNA_phospho
|
166 |
583 |
2.4e-142 |
PFAM |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
Acvrl1 |
T |
A |
15: 101,035,248 (GRCm39) |
F258Y |
probably damaging |
Het |
Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
Blnk |
T |
A |
19: 40,922,890 (GRCm39) |
K412M |
probably benign |
Het |
Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
Hsp90ab1 |
T |
C |
17: 45,880,490 (GRCm39) |
N407S |
probably damaging |
Het |
Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
Pgghg |
T |
C |
7: 140,525,264 (GRCm39) |
|
probably null |
Het |
Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
Ppig |
A |
T |
2: 69,563,268 (GRCm39) |
E81D |
possibly damaging |
Het |
Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
Rad9b |
T |
C |
5: 122,482,310 (GRCm39) |
I142V |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
Other mutations in Tdp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |