Incidental Mutation 'IGL01303:Top6bl'
ID |
73324 |
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 # |
IGL01303
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
4675762-4748696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4709510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 318
(T318A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096325]
[ENSMUST00000177696]
[ENSMUST00000225896]
|
AlphaFold |
J3QMY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096325
|
SMART Domains |
Protein: ENSMUSP00000094049 Gene: ENSMUSG00000071691
Domain | Start | End | E-Value | Type |
Pfam:DUF4554
|
120 |
162 |
1.6e-17 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177696
AA Change: T318A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136515 Gene: ENSMUSG00000071691 AA Change: T318A
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 |
possibly damaging
Transcript: ENSMUST00000225896
AA Change: T164A
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
C |
9: 90,053,787 (GRCm39) |
I111L |
possibly damaging |
Het |
Ankrd13a |
A |
T |
5: 114,924,063 (GRCm39) |
H53L |
possibly damaging |
Het |
Becn1 |
T |
C |
11: 101,185,811 (GRCm39) |
D145G |
possibly damaging |
Het |
Bod1l |
A |
G |
5: 41,974,942 (GRCm39) |
V2124A |
probably benign |
Het |
Cdcp3 |
A |
G |
7: 130,796,060 (GRCm39) |
T72A |
possibly damaging |
Het |
Celsr1 |
C |
T |
15: 85,914,692 (GRCm39) |
A1094T |
probably damaging |
Het |
Clstn2 |
A |
T |
9: 97,365,128 (GRCm39) |
Y459* |
probably null |
Het |
Cnksr3 |
A |
G |
10: 7,104,281 (GRCm39) |
|
probably null |
Het |
Cux2 |
A |
T |
5: 122,003,991 (GRCm39) |
F1048L |
probably benign |
Het |
Cybrd1 |
A |
G |
2: 70,960,050 (GRCm39) |
K83E |
probably damaging |
Het |
Dpp8 |
A |
T |
9: 64,962,294 (GRCm39) |
|
probably benign |
Het |
Eef2 |
T |
A |
10: 81,017,777 (GRCm39) |
V813E |
possibly damaging |
Het |
Eef2 |
A |
T |
10: 81,017,816 (GRCm39) |
|
probably null |
Het |
Etnk1 |
T |
G |
6: 143,126,392 (GRCm39) |
I79S |
probably damaging |
Het |
Fam151a |
A |
G |
4: 106,604,790 (GRCm39) |
N384S |
possibly damaging |
Het |
Fam83c |
A |
G |
2: 155,676,362 (GRCm39) |
L136P |
probably damaging |
Het |
Gfra2 |
G |
A |
14: 71,133,292 (GRCm39) |
V41I |
probably benign |
Het |
Mroh9 |
A |
G |
1: 162,908,144 (GRCm39) |
I2T |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,306,132 (GRCm39) |
I274V |
probably benign |
Het |
Nacad |
T |
G |
11: 6,548,279 (GRCm39) |
E1456A |
possibly damaging |
Het |
Npy4r |
T |
A |
14: 33,868,614 (GRCm39) |
I225F |
possibly damaging |
Het |
Or3a1b |
T |
G |
11: 74,012,160 (GRCm39) |
F15C |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 115,973,038 (GRCm39) |
D719G |
possibly damaging |
Het |
Pparg |
G |
T |
6: 115,449,915 (GRCm39) |
V305L |
possibly damaging |
Het |
Rictor |
A |
G |
15: 6,738,119 (GRCm39) |
N19D |
probably benign |
Het |
Slc4a1 |
T |
C |
11: 102,248,790 (GRCm39) |
T292A |
probably benign |
Het |
Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
Sorl1 |
A |
G |
9: 41,935,774 (GRCm39) |
|
probably benign |
Het |
Tal1 |
T |
C |
4: 114,925,489 (GRCm39) |
V186A |
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,860,578 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
A |
T |
1: 57,427,712 (GRCm39) |
Y297* |
probably null |
Het |
Unc79 |
C |
A |
12: 103,128,126 (GRCm39) |
Q2131K |
possibly damaging |
Het |
|
Other mutations in Top6bl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02308:Top6bl
|
APN |
19 |
4,713,583 (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 |
2013-10-07 |