Incidental Mutation 'IGL02308:Top6bl'
| ID |
287702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Top6bl
|
| Ensembl Gene |
ENSMUSG00000071691 |
| Gene Name |
TOP6B like initiator of meiotic double strand breaks |
| Synonyms |
Top6bl, Gm960 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL02308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
4675762-4748696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4713583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 132
(K132E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096325]
[ENSMUST00000177696]
[ENSMUST00000225896]
|
| AlphaFold |
J3QMY9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096325
AA Change: K132E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691
AA Change: K132E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4554
|
120 |
162 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177696
AA Change: K286E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: K286E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
Pfam:DUF4554
|
274 |
719 |
5.3e-206 |
PFAM |
|
low complexity region
|
720 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225896
AA Change: K132E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,093,308 (GRCm39) |
S8F |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,522,931 (GRCm39) |
Q37L |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,736,463 (GRCm39) |
T1343A |
probably benign |
Het |
| Cmbl |
C |
A |
15: 31,585,554 (GRCm39) |
P146Q |
possibly damaging |
Het |
| Cog2 |
A |
T |
8: 125,259,951 (GRCm39) |
|
probably null |
Het |
| Dgkh |
C |
A |
14: 78,825,016 (GRCm39) |
V880L |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,402,141 (GRCm39) |
S1114P |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,080,828 (GRCm39) |
V723D |
probably damaging |
Het |
| Gdf11 |
A |
G |
10: 128,721,253 (GRCm39) |
Y314H |
probably damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
G |
A |
11: 57,127,750 (GRCm39) |
V320I |
probably benign |
Het |
| H2-Q10 |
T |
A |
17: 35,784,463 (GRCm39) |
*326R |
probably null |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,832,120 (GRCm39) |
|
probably benign |
Het |
| Mios |
A |
G |
6: 8,231,269 (GRCm39) |
I718V |
probably benign |
Het |
| Mroh8 |
A |
G |
2: 157,096,893 (GRCm39) |
V318A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,039,897 (GRCm39) |
*528W |
probably null |
Het |
| Nom1 |
T |
A |
5: 29,642,708 (GRCm39) |
V403D |
probably damaging |
Het |
| Npffr2 |
C |
A |
5: 89,731,310 (GRCm39) |
N413K |
probably benign |
Het |
| Olr1 |
C |
T |
6: 129,476,860 (GRCm39) |
R135K |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,779,121 (GRCm39) |
Y26N |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,665 (GRCm39) |
I176F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,140,600 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,431,698 (GRCm39) |
M1158V |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,001,017 (GRCm39) |
K238E |
probably damaging |
Het |
| Smarcc2 |
G |
T |
10: 128,318,641 (GRCm39) |
R641L |
probably damaging |
Het |
| Th |
T |
C |
7: 142,451,794 (GRCm39) |
E75G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ttn |
G |
A |
2: 76,724,705 (GRCm39) |
R2107* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,245,119 (GRCm39) |
C1636S |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,741,597 (GRCm39) |
I103K |
possibly damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,437 (GRCm39) |
M558V |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,777,573 (GRCm39) |
M1801I |
probably benign |
Het |
|
| Other mutations in Top6bl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Top6bl
|
APN |
19 |
4,709,510 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01678:Top6bl
|
APN |
19 |
4,722,193 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02160:Top6bl
|
APN |
19 |
4,713,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03375:Top6bl
|
APN |
19 |
4,748,206 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0485:Top6bl
|
UTSW |
19 |
4,708,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0671:Top6bl
|
UTSW |
19 |
4,676,216 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1583:Top6bl
|
UTSW |
19 |
4,702,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Top6bl
|
UTSW |
19 |
4,748,633 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R3956:Top6bl
|
UTSW |
19 |
4,742,525 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4554:Top6bl
|
UTSW |
19 |
4,699,847 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4635:Top6bl
|
UTSW |
19 |
4,748,524 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4717:Top6bl
|
UTSW |
19 |
4,675,901 (GRCm39) |
unclassified |
probably benign |
|
|
R4996:Top6bl
|
UTSW |
19 |
4,676,112 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5133:Top6bl
|
UTSW |
19 |
4,708,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5752:Top6bl
|
UTSW |
19 |
4,676,048 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6277:Top6bl
|
UTSW |
19 |
4,677,250 (GRCm39) |
nonsense |
probably null |
|
|
R6348:Top6bl
|
UTSW |
19 |
4,722,106 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7386:Top6bl
|
UTSW |
19 |
4,713,586 (GRCm39) |
nonsense |
probably null |
|
|
R7673:Top6bl
|
UTSW |
19 |
4,695,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Top6bl
|
UTSW |
19 |
4,748,514 (GRCm39) |
missense |
unknown |
|
|
R7874:Top6bl
|
UTSW |
19 |
4,708,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Top6bl
|
UTSW |
19 |
4,699,721 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8983:Top6bl
|
UTSW |
19 |
4,695,714 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9245:Top6bl
|
UTSW |
19 |
4,746,068 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9522:Top6bl
|
UTSW |
19 |
4,677,274 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Top6bl
|
UTSW |
19 |
4,675,931 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation