Incidental Mutation 'R5441:Tdp1'
| ID |
486829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdp1
|
| Ensembl Gene |
ENSMUSG00000021177 |
| Gene Name |
tyrosyl-DNA phosphodiesterase 1 |
| Synonyms |
4921509N21Rik, SCAN1, 2810481F14Rik, E430034L06Rik, Gm40556 |
| MMRRC Submission |
043006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R5441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
99850776-99921478 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 99876544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 353
(V353D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021594]
[ENSMUST00000153627]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021594
AA Change: V353D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021594
Gene: ENSMUSG00000021177
AA Change: V353D
| 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 damaging
Transcript: ENSMUST00000153627
AA Change: V353D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118656
Gene: ENSMUSG00000021177
AA Change: V353D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
32 |
N/A |
INTRINSIC |
|
Pfam:Tyr-DNA_phospho
|
166 |
583 |
2.4e-142 |
PFAM |
|
| Meta Mutation Damage Score |
0.9324 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| Abca12 |
A |
G |
1: 71,334,215 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Aspa |
A |
T |
11: 73,196,420 (GRCm39) |
F261I |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,427,767 (GRCm39) |
G448* |
probably null |
Het |
| Atmin |
T |
A |
8: 117,684,696 (GRCm39) |
D785E |
probably damaging |
Het |
| Car1 |
G |
C |
3: 14,841,364 (GRCm39) |
R90G |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,178 (GRCm39) |
D520G |
probably benign |
Het |
| Cers5 |
T |
A |
15: 99,649,119 (GRCm39) |
K50* |
probably null |
Het |
| Chad |
A |
T |
11: 94,459,118 (GRCm39) |
D340V |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,075,711 (GRCm39) |
I68T |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,856,339 (GRCm39) |
T2042M |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,752,991 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,865,177 (GRCm39) |
D1608V |
probably benign |
Het |
| Fzd5 |
T |
A |
1: 64,774,576 (GRCm39) |
Q395L |
probably benign |
Het |
| Gm7664 |
T |
A |
13: 62,676,464 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,162,869 (GRCm39) |
E2G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,296,428 (GRCm39) |
E2677K |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,291,741 (GRCm39) |
L3411P |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Lysmd2 |
C |
T |
9: 75,533,254 (GRCm39) |
H70Y |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,370,818 (GRCm39) |
|
probably benign |
Het |
| Msi2 |
G |
A |
11: 88,608,921 (GRCm39) |
|
probably benign |
Het |
| Napsa |
T |
A |
7: 44,230,817 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,153,578 (GRCm39) |
L710M |
probably damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,414 (GRCm39) |
K305M |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,159 (GRCm39) |
|
probably null |
Het |
| Or5m13 |
T |
A |
2: 85,748,934 (GRCm39) |
F222I |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,564 (GRCm39) |
T100A |
probably benign |
Het |
| Or9a2 |
C |
T |
6: 41,748,782 (GRCm39) |
M150I |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,637,147 (GRCm39) |
Y105F |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,456,120 (GRCm39) |
I214F |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,456 (GRCm39) |
M139K |
possibly damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,858,505 (GRCm39) |
V655A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,530,767 (GRCm39) |
L78P |
probably damaging |
Het |
| Ralgapa1 |
A |
C |
12: 55,766,408 (GRCm39) |
D1295E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,299,846 (GRCm39) |
D192N |
probably damaging |
Het |
| Ropn1 |
A |
G |
16: 34,487,167 (GRCm39) |
I34M |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,038 (GRCm39) |
G104C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,582 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,007,117 (GRCm39) |
I29T |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,794,304 (GRCm39) |
|
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,232,712 (GRCm39) |
C68* |
probably null |
Het |
| Syne2 |
G |
A |
12: 76,035,917 (GRCm39) |
V3736I |
possibly damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,249 (GRCm39) |
N82D |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,568,369 (GRCm39) |
I1352K |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,887,066 (GRCm39) |
T919A |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,676,062 (GRCm39) |
M373K |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,868,335 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,068,466 (GRCm39) |
Y16* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,435,268 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,703 (GRCm39) |
F382L |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,160,122 (GRCm39) |
|
probably benign |
Het |
| Vmn1r207 |
T |
C |
13: 22,910,686 (GRCm39) |
|
noncoding transcript |
Het |
| Zan |
T |
A |
5: 137,435,013 (GRCm39) |
I2127F |
unknown |
Het |
| Zfp748 |
C |
A |
13: 67,688,737 (GRCm39) |
C841F |
probably damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,253 (GRCm39) |
P299Q |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGGAACCTTAGTGCAG -3'
(R):5'- GACCACAAGGCTTGTTTATGAC -3'
Sequencing Primer
(F):5'- CAGGTGTCCTGCTTTTAACTGGC -3'
(R):5'- ACAAGTTGAGATTTGAATCTGGG -3'
|
| Posted On |
2017-08-18 |
Incidental Mutation