Incidental Mutation 'R6292:Top1'
| ID |
508484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top1
|
| Ensembl Gene |
ENSMUSG00000070544 |
| Gene Name |
topoisomerase (DNA) I |
| Synonyms |
D130064I21Rik, Top-1 |
| MMRRC Submission |
044461-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160487901-160564684 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 160540061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 213
(Y213F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109468]
|
| AlphaFold |
Q04750 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109468
AA Change: Y213F
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105094
Gene: ENSMUSG00000070544
AA Change: Y213F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
211 |
N/A |
INTRINSIC |
|
Blast:TOPEUc
|
245 |
321 |
9e-19 |
BLAST |
|
low complexity region
|
323 |
339 |
N/A |
INTRINSIC |
|
TOPEUc
|
362 |
739 |
4.43e-280 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164694
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
PHENOTYPE: A homozygous mutation resulted in early embryonic lethality at the 4 to 16 cell stage of development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
| Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
| Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
| Miga1 |
A |
G |
3: 152,023,356 (GRCm39) |
F232L |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
| Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
| Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
| Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
probably damaging |
Het |
|
| Other mutations in Top1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02168:Top1
|
APN |
2 |
160,546,893 (GRCm39) |
splice site |
probably null |
|
|
IGL03083:Top1
|
APN |
2 |
160,545,498 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03242:Top1
|
APN |
2 |
160,557,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Top1
|
APN |
2 |
160,535,647 (GRCm39) |
missense |
unknown |
|
|
Mainspring
|
UTSW |
2 |
160,556,158 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Taut
|
UTSW |
2 |
160,562,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
unwind
|
UTSW |
2 |
160,546,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0022:Top1
|
UTSW |
2 |
160,544,719 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0449:Top1
|
UTSW |
2 |
160,554,628 (GRCm39) |
nonsense |
probably null |
|
|
R0501:Top1
|
UTSW |
2 |
160,556,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Top1
|
UTSW |
2 |
160,556,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0946:Top1
|
UTSW |
2 |
160,554,588 (GRCm39) |
nonsense |
probably null |
|
|
R0972:Top1
|
UTSW |
2 |
160,562,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Top1
|
UTSW |
2 |
160,559,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1534:Top1
|
UTSW |
2 |
160,556,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Top1
|
UTSW |
2 |
160,545,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1655:Top1
|
UTSW |
2 |
160,545,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1818:Top1
|
UTSW |
2 |
160,557,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Top1
|
UTSW |
2 |
160,512,042 (GRCm39) |
missense |
unknown |
|
|
R2055:Top1
|
UTSW |
2 |
160,544,748 (GRCm39) |
splice site |
probably benign |
|
|
R2104:Top1
|
UTSW |
2 |
160,546,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3705:Top1
|
UTSW |
2 |
160,544,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3769:Top1
|
UTSW |
2 |
160,563,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Top1
|
UTSW |
2 |
160,563,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Top1
|
UTSW |
2 |
160,544,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Top1
|
UTSW |
2 |
160,544,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Top1
|
UTSW |
2 |
160,529,669 (GRCm39) |
splice site |
probably benign |
|
|
R4598:Top1
|
UTSW |
2 |
160,562,885 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4651:Top1
|
UTSW |
2 |
160,554,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Top1
|
UTSW |
2 |
160,554,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Top1
|
UTSW |
2 |
160,545,490 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5523:Top1
|
UTSW |
2 |
160,544,695 (GRCm39) |
nonsense |
probably null |
|
|
R6724:Top1
|
UTSW |
2 |
160,554,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Top1
|
UTSW |
2 |
160,546,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7461:Top1
|
UTSW |
2 |
160,554,762 (GRCm39) |
splice site |
probably null |
|
|
R7843:Top1
|
UTSW |
2 |
160,556,176 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7855:Top1
|
UTSW |
2 |
160,556,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8100:Top1
|
UTSW |
2 |
160,540,155 (GRCm39) |
nonsense |
probably null |
|
|
R8302:Top1
|
UTSW |
2 |
160,545,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Top1
|
UTSW |
2 |
160,488,009 (GRCm39) |
start gained |
probably benign |
|
|
R8380:Top1
|
UTSW |
2 |
160,559,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8381:Top1
|
UTSW |
2 |
160,545,594 (GRCm39) |
missense |
probably null |
0.77 |
|
R8392:Top1
|
UTSW |
2 |
160,559,374 (GRCm39) |
nonsense |
probably null |
|
|
R8713:Top1
|
UTSW |
2 |
160,559,360 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8773:Top1
|
UTSW |
2 |
160,556,158 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8844:Top1
|
UTSW |
2 |
160,563,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8949:Top1
|
UTSW |
2 |
160,547,182 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8992:Top1
|
UTSW |
2 |
160,562,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9133:Top1
|
UTSW |
2 |
160,545,591 (GRCm39) |
nonsense |
probably null |
|
|
R9799:Top1
|
UTSW |
2 |
160,563,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Top1
|
UTSW |
2 |
160,563,438 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTTGCTTGAAATTGCTGCTC -3'
(R):5'- ATTCCTTTTCCCAAGCCACACATAG -3'
Sequencing Primer
(F):5'- GCTGCTCTTTTCAGTGAGACACAG -3'
(R):5'- CTAGCTAGGACTGTGCAATATAGGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation