Incidental Mutation 'R4554:Top6bl'
| ID |
499976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Top6bl
|
| Ensembl Gene |
ENSMUSG00000071691 |
| Gene Name |
TOP6B like initiator of meiotic double strand breaks |
| Synonyms |
Top6bl, Gm960 |
| MMRRC Submission |
041596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4554 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4675762-4748696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4699847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 452
(Q452R)
|
| 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: Q452R
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: Q452R
| 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: Q298R
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
C |
T |
3: 121,949,992 (GRCm39) |
A1772V |
possibly damaging |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,294 (GRCm39) |
G4526D |
probably damaging |
Het |
| Alms1 |
G |
A |
6: 85,601,599 (GRCm39) |
R2150H |
probably benign |
Het |
| Amh |
A |
T |
10: 80,642,885 (GRCm39) |
E356D |
probably benign |
Het |
| Cap2 |
T |
A |
13: 46,789,250 (GRCm39) |
F152I |
probably damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,485,631 (GRCm39) |
M206K |
unknown |
Het |
| Lsamp |
G |
C |
16: 41,964,438 (GRCm39) |
D271H |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,752,406 (GRCm39) |
V133G |
probably damaging |
Het |
| Ngrn |
C |
T |
7: 79,914,449 (GRCm39) |
T200I |
possibly damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,123 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,469,216 (GRCm39) |
T117A |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Poc5 |
A |
G |
13: 96,539,529 (GRCm39) |
K357E |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,720,100 (GRCm39) |
R325H |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,946 (GRCm39) |
P366L |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,762 (GRCm39) |
N359S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,804,433 (GRCm39) |
T499A |
probably benign |
Het |
| Tex2 |
G |
T |
11: 106,435,212 (GRCm39) |
P738H |
unknown |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 13,011,088 (GRCm39) |
N87D |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTGCCACACCCAATCTG -3'
(R):5'- ATGCACACGGATGCTATTTCC -3'
Sequencing Primer
(F):5'- ACACCCAATCTGGCTGCTG -3'
(R):5'- CATTGCACGTGCCTGGCTATG -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation