Incidental Mutation 'IGL01678:Top6bl'
ID |
103714 |
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 # |
IGL01678
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
4675762-4748696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4722193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 76
(I76L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096325]
[ENSMUST00000177696]
[ENSMUST00000225896]
|
AlphaFold |
J3QMY9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096325
AA Change: I76L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000094049 Gene: ENSMUSG00000071691 AA Change: I76L
Domain | Start | End | E-Value | Type |
Pfam:DUF4554
|
120 |
162 |
1.6e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177696
AA Change: I230L
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000136515 Gene: ENSMUSG00000071691 AA Change: I230L
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: I76L
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
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 |
Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
Zfp143 |
C |
A |
7: 109,679,558 (GRCm39) |
|
probably benign |
Het |
Zmat4 |
T |
A |
8: 24,392,064 (GRCm39) |
C7S |
probably damaging |
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 |
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 |
2014-01-21 |