Incidental Mutation 'R7305:Topbp1'
| ID |
567246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Topbp1
|
| Ensembl Gene |
ENSMUSG00000032555 |
| Gene Name |
topoisomerase (DNA) II binding protein 1 |
| Synonyms |
1110031N14Rik, 2810429C13Rik, D430026L04Rik |
| MMRRC Submission |
045407-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103182414-103227627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103205836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 825
(T825S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035164]
|
| AlphaFold |
Q6ZQF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035164
AA Change: T825S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035164
Gene: ENSMUSG00000032555
AA Change: T825S
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
6 |
91 |
3.04e1 |
SMART |
|
BRCT
|
103 |
179 |
1.51e-13 |
SMART |
|
BRCT
|
197 |
274 |
4.69e-19 |
SMART |
|
BRCT
|
355 |
433 |
3.58e-15 |
SMART |
|
BRCT
|
553 |
626 |
5.57e-3 |
SMART |
|
BRCT
|
646 |
731 |
1.53e-9 |
SMART |
|
BRCT
|
904 |
983 |
3.48e-13 |
SMART |
|
low complexity region
|
1097 |
1106 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1121 |
N/A |
INTRINSIC |
|
low complexity region
|
1213 |
1218 |
N/A |
INTRINSIC |
|
BRCT
|
1258 |
1337 |
2.31e-9 |
SMART |
|
Blast:BRCT
|
1387 |
1472 |
4e-52 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185721
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die around implantation due to embryonic growth arrest, increased apoptosis, and decreased cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
T |
2: 181,135,209 (GRCm39) |
D37V |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,258 (GRCm39) |
D87G |
|
Het |
| Ankrd31 |
A |
G |
13: 97,015,479 (GRCm39) |
S1583G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,599,938 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,107,067 (GRCm39) |
D264G |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,880,560 (GRCm39) |
M508K |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cnot3 |
A |
T |
7: 3,648,479 (GRCm39) |
|
probably benign |
Het |
| Cxxc1 |
A |
G |
18: 74,352,467 (GRCm39) |
Y349C |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp3a57 |
A |
G |
5: 145,307,795 (GRCm39) |
I184V |
probably benign |
Het |
| D130052B06Rik |
GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG |
GTCTACACTGTCCTG |
11: 33,573,355 (GRCm39) |
|
probably null |
Het |
| Dab1 |
T |
A |
4: 104,570,987 (GRCm39) |
D210E |
|
Het |
| Elavl1 |
G |
A |
8: 4,375,199 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
C |
T |
5: 31,074,433 (GRCm39) |
Q225* |
probably null |
Het |
| Eml6 |
G |
T |
11: 29,727,258 (GRCm39) |
A1288E |
probably benign |
Het |
| Eno1 |
T |
C |
4: 150,329,796 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
C |
T |
1: 185,111,898 (GRCm39) |
R303C |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,126,878 (GRCm39) |
A651V |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,714,368 (GRCm39) |
I156F |
probably damaging |
Het |
| Faim2 |
A |
T |
15: 99,411,814 (GRCm39) |
I171N |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,069,939 (GRCm39) |
N381I |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,637,831 (GRCm39) |
P156Q |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,384,833 (GRCm39) |
M243L |
probably benign |
Het |
| Garin2 |
A |
G |
12: 78,761,809 (GRCm39) |
K158E |
possibly damaging |
Het |
| Gm5134 |
A |
G |
10: 75,836,233 (GRCm39) |
I405V |
probably damaging |
Het |
| Gm9376 |
A |
T |
14: 118,504,768 (GRCm39) |
K67* |
probably null |
Het |
| Grm8 |
A |
T |
6: 27,761,354 (GRCm39) |
I290K |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,390,121 (GRCm39) |
M73L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,369,150 (GRCm39) |
D452G |
|
Het |
| Idh3b |
C |
A |
2: 130,123,413 (GRCm39) |
K192N |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,553 (GRCm39) |
S63P |
probably benign |
Het |
| Itgb2 |
A |
C |
10: 77,384,398 (GRCm39) |
D173A |
probably damaging |
Het |
| Jmjd8 |
A |
T |
17: 26,049,301 (GRCm39) |
T255S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,820,714 (GRCm39) |
E1243A |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,129,939 (GRCm39) |
T252A |
probably damaging |
Het |
| Mrgpra1 |
C |
A |
7: 46,985,203 (GRCm39) |
A159S |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,131 (GRCm39) |
I500V |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,434 (GRCm39) |
T1523A |
possibly damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,343,298 (GRCm39) |
I322T |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,064,948 (GRCm39) |
E184G |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,470,590 (GRCm39) |
W1022* |
probably null |
Het |
| Or2l13 |
T |
A |
16: 19,306,449 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4a77 |
T |
A |
2: 89,486,846 (GRCm39) |
H313L |
probably benign |
Het |
| Or52p2 |
G |
T |
7: 102,237,162 (GRCm39) |
Q263K |
possibly damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,572 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or6c1 |
A |
T |
10: 129,518,149 (GRCm39) |
I153N |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,720 (GRCm39) |
Y118* |
probably null |
Het |
| Otulinl |
A |
G |
15: 27,658,319 (GRCm39) |
C184R |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Parp8 |
A |
G |
13: 117,031,461 (GRCm39) |
L417P |
possibly damaging |
Het |
| Pdia6 |
A |
G |
12: 17,324,509 (GRCm39) |
Q120R |
probably benign |
Het |
| Ppp3cc |
T |
C |
14: 70,478,252 (GRCm39) |
N290S |
probably benign |
Het |
| Prdm5 |
C |
A |
6: 65,808,244 (GRCm39) |
S63R |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,445 (GRCm39) |
D350G |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,607,878 (GRCm39) |
L497S |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,312,547 (GRCm39) |
N430D |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,344 (GRCm39) |
N422S |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,805,638 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,599,522 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
T |
A |
13: 58,714,045 (GRCm39) |
E440V |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,947,932 (GRCm39) |
I482K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,223 (GRCm39) |
F305Y |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,938,220 (GRCm39) |
A253V |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,756,690 (GRCm39) |
N544S |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,647 (GRCm39) |
I656N |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,953 (GRCm39) |
I4019K |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,432,500 (GRCm39) |
L771* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,927 (GRCm39) |
D209G |
possibly damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,705 (GRCm39) |
|
probably null |
Het |
| Tmem79 |
T |
C |
3: 88,240,718 (GRCm39) |
T77A |
probably benign |
Het |
| Trpm6 |
A |
T |
19: 18,853,455 (GRCm39) |
Q1825L |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 821,348 (GRCm39) |
D110E |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,261,280 (GRCm39) |
N3422K |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,314 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,235 (GRCm39) |
H736R |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,697,435 (GRCm39) |
H291R |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,413,401 (GRCm39) |
T3177A |
unknown |
Het |
| Zbtb21 |
T |
C |
16: 97,752,495 (GRCm39) |
H596R |
possibly damaging |
Het |
|
| Other mutations in Topbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Topbp1
|
APN |
9 |
103,222,142 (GRCm39) |
missense |
probably benign |
|
|
IGL01524:Topbp1
|
APN |
9 |
103,188,844 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02335:Topbp1
|
APN |
9 |
103,205,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Topbp1
|
APN |
9 |
103,197,438 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02943:Topbp1
|
APN |
9 |
103,205,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02953:Topbp1
|
APN |
9 |
103,205,634 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03040:Topbp1
|
APN |
9 |
103,205,866 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
PIT4377001:Topbp1
|
UTSW |
9 |
103,187,088 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0044:Topbp1
|
UTSW |
9 |
103,202,972 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0344:Topbp1
|
UTSW |
9 |
103,185,932 (GRCm39) |
splice site |
probably benign |
|
|
R0344:Topbp1
|
UTSW |
9 |
103,205,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0591:Topbp1
|
UTSW |
9 |
103,227,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0666:Topbp1
|
UTSW |
9 |
103,186,011 (GRCm39) |
missense |
probably benign |
|
|
R0785:Topbp1
|
UTSW |
9 |
103,192,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0906:Topbp1
|
UTSW |
9 |
103,205,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1352:Topbp1
|
UTSW |
9 |
103,224,207 (GRCm39) |
missense |
probably benign |
|
|
R1745:Topbp1
|
UTSW |
9 |
103,186,044 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2104:Topbp1
|
UTSW |
9 |
103,195,181 (GRCm39) |
splice site |
probably benign |
|
|
R2166:Topbp1
|
UTSW |
9 |
103,190,128 (GRCm39) |
splice site |
probably null |
|
|
R2230:Topbp1
|
UTSW |
9 |
103,223,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2967:Topbp1
|
UTSW |
9 |
103,219,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3845:Topbp1
|
UTSW |
9 |
103,187,122 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4089:Topbp1
|
UTSW |
9 |
103,201,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4110:Topbp1
|
UTSW |
9 |
103,187,158 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4454:Topbp1
|
UTSW |
9 |
103,222,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Topbp1
|
UTSW |
9 |
103,211,401 (GRCm39) |
intron |
probably benign |
|
|
R4745:Topbp1
|
UTSW |
9 |
103,200,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Topbp1
|
UTSW |
9 |
103,190,035 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4934:Topbp1
|
UTSW |
9 |
103,205,568 (GRCm39) |
unclassified |
probably benign |
|
|
R4963:Topbp1
|
UTSW |
9 |
103,197,804 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5199:Topbp1
|
UTSW |
9 |
103,223,871 (GRCm39) |
unclassified |
probably benign |
|
|
R5461:Topbp1
|
UTSW |
9 |
103,192,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5517:Topbp1
|
UTSW |
9 |
103,213,313 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5563:Topbp1
|
UTSW |
9 |
103,188,712 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5564:Topbp1
|
UTSW |
9 |
103,211,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Topbp1
|
UTSW |
9 |
103,190,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5774:Topbp1
|
UTSW |
9 |
103,205,698 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5785:Topbp1
|
UTSW |
9 |
103,200,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6029:Topbp1
|
UTSW |
9 |
103,222,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6077:Topbp1
|
UTSW |
9 |
103,210,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Topbp1
|
UTSW |
9 |
103,224,160 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6133:Topbp1
|
UTSW |
9 |
103,188,963 (GRCm39) |
splice site |
probably null |
|
|
R6213:Topbp1
|
UTSW |
9 |
103,209,950 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6773:Topbp1
|
UTSW |
9 |
103,220,891 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6922:Topbp1
|
UTSW |
9 |
103,213,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Topbp1
|
UTSW |
9 |
103,205,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Topbp1
|
UTSW |
9 |
103,200,543 (GRCm39) |
missense |
probably benign |
|
|
R7517:Topbp1
|
UTSW |
9 |
103,209,932 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7605:Topbp1
|
UTSW |
9 |
103,209,905 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7701:Topbp1
|
UTSW |
9 |
103,210,184 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7741:Topbp1
|
UTSW |
9 |
103,197,756 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8115:Topbp1
|
UTSW |
9 |
103,197,740 (GRCm39) |
missense |
probably benign |
|
|
R8177:Topbp1
|
UTSW |
9 |
103,197,740 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8269:Topbp1
|
UTSW |
9 |
103,205,792 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8446:Topbp1
|
UTSW |
9 |
103,186,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Topbp1
|
UTSW |
9 |
103,186,176 (GRCm39) |
splice site |
probably null |
|
|
R8547:Topbp1
|
UTSW |
9 |
103,213,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8549:Topbp1
|
UTSW |
9 |
103,201,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Topbp1
|
UTSW |
9 |
103,200,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9006:Topbp1
|
UTSW |
9 |
103,182,499 (GRCm39) |
unclassified |
probably benign |
|
|
R9163:Topbp1
|
UTSW |
9 |
103,205,767 (GRCm39) |
missense |
probably benign |
|
|
R9584:Topbp1
|
UTSW |
9 |
103,219,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9763:Topbp1
|
UTSW |
9 |
103,223,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCTGACGCACACTTG -3'
(R):5'- TTCATGAGCAAACCCAGAGTCC -3'
Sequencing Primer
(F):5'- TCCTGACGCACACTTGGAAATTC -3'
(R):5'- AGGCACAGCTGTTATCTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation