Incidental Mutation 'R5752:Top6bl'
| ID |
444873 |
| 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 |
043357-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4675762-4748696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4676048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 695
(A695S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025823]
[ENSMUST00000068004]
[ENSMUST00000113825]
[ENSMUST00000177696]
[ENSMUST00000224675]
[ENSMUST00000225896]
[ENSMUST00000225264]
[ENSMUST00000224707]
[ENSMUST00000224726]
[ENSMUST00000225375]
[ENSMUST00000225476]
|
| AlphaFold |
J3QMY9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025823
|
| SMART Domains |
Protein: ENSMUSP00000025823
Gene: ENSMUSG00000024889
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
Pfam:Abi
|
147 |
267 |
1.4e-19 |
PFAM |
|
transmembrane domain
|
283 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068004
|
| SMART Domains |
Protein: ENSMUSP00000063825
Gene: ENSMUSG00000024892
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
22 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
37 |
147 |
3.3e-45 |
PFAM |
|
Pfam:ATP-grasp_4
|
149 |
334 |
3.9e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
152 |
361 |
7.2e-77 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
161 |
329 |
1.5e-11 |
PFAM |
|
Biotin_carb_C
|
376 |
483 |
1.21e-50 |
SMART |
|
low complexity region
|
513 |
541 |
N/A |
INTRINSIC |
|
Pfam:HMGL-like
|
564 |
838 |
8.2e-29 |
PFAM |
|
Pfam:PYC_OADA
|
862 |
1062 |
1.4e-72 |
PFAM |
|
Pfam:Biotin_lipoyl
|
1111 |
1178 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113825
|
| SMART Domains |
Protein: ENSMUSP00000109456
Gene: ENSMUSG00000024892
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
36 |
146 |
1.1e-43 |
PFAM |
|
Pfam:ATP-grasp_4
|
148 |
332 |
2.9e-19 |
PFAM |
|
Pfam:CPSase_L_D2
|
151 |
360 |
4.2e-77 |
PFAM |
|
Pfam:Dala_Dala_lig_C
|
158 |
328 |
7.9e-13 |
PFAM |
|
Biotin_carb_C
|
375 |
482 |
1.21e-50 |
SMART |
|
low complexity region
|
512 |
540 |
N/A |
INTRINSIC |
|
Pfam:HMGL-like
|
571 |
821 |
3.4e-28 |
PFAM |
|
Pfam:PYC_OADA
|
861 |
1062 |
3.4e-69 |
PFAM |
|
Pfam:Biotin_lipoyl
|
1110 |
1177 |
1.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177696
AA Change: A695S
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: A695S
| 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 |
noncoding transcript
Transcript: ENSMUST00000184483
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223788
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224675
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225896
AA Change: A541S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225264
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226012
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225476
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
C |
A |
17: 47,200,966 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
C |
A |
10: 83,356,244 (GRCm39) |
G49C |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,419,725 (GRCm39) |
E11K |
probably damaging |
Het |
| Asns |
C |
T |
6: 7,689,365 (GRCm39) |
G46S |
probably damaging |
Het |
| Atrn |
G |
T |
2: 130,748,464 (GRCm39) |
|
probably benign |
Het |
| Cep126 |
A |
C |
9: 8,120,746 (GRCm39) |
Y92* |
probably null |
Het |
| Cfap69 |
T |
C |
5: 5,639,204 (GRCm39) |
T567A |
probably damaging |
Het |
| Clgn |
T |
A |
8: 84,123,670 (GRCm39) |
Y61N |
probably damaging |
Het |
| Col28a1 |
T |
G |
6: 8,015,025 (GRCm39) |
K793N |
possibly damaging |
Het |
| Cxcl9 |
C |
A |
5: 92,471,715 (GRCm39) |
M108I |
probably benign |
Het |
| Cyp4f37 |
A |
T |
17: 32,850,306 (GRCm39) |
I318F |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,993,320 (GRCm39) |
M363T |
unknown |
Het |
| Dnajc13 |
A |
C |
9: 104,069,973 (GRCm39) |
|
probably null |
Het |
| Entpd2 |
G |
A |
2: 25,289,781 (GRCm39) |
|
probably benign |
Het |
| F3 |
T |
A |
3: 121,526,053 (GRCm39) |
N205K |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,180,063 (GRCm39) |
F1426Y |
possibly damaging |
Het |
| Galnt6 |
A |
T |
15: 100,602,007 (GRCm39) |
F267I |
probably damaging |
Het |
| Gm1322 |
G |
A |
2: 67,014,979 (GRCm39) |
|
noncoding transcript |
Het |
| Hdgfl3 |
A |
C |
7: 81,549,451 (GRCm39) |
S143A |
possibly damaging |
Het |
| Ints7 |
T |
A |
1: 191,308,005 (GRCm39) |
D12E |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,037 (GRCm39) |
T114A |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,185,624 (GRCm39) |
Y1364H |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,618,267 (GRCm39) |
T116A |
possibly damaging |
Het |
| Megf8 |
C |
T |
7: 25,054,539 (GRCm39) |
T1885I |
probably damaging |
Het |
| Mrps11 |
A |
G |
7: 78,433,343 (GRCm39) |
K30E |
probably benign |
Het |
| Naca |
T |
A |
10: 127,877,797 (GRCm39) |
|
probably benign |
Het |
| Ncoa4-ps |
A |
G |
12: 119,226,349 (GRCm39) |
|
noncoding transcript |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Or2at1 |
T |
C |
7: 99,417,155 (GRCm39) |
I262T |
probably benign |
Het |
| Paip2b |
C |
T |
6: 83,808,252 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
G |
T |
2: 118,541,532 (GRCm39) |
|
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,587,131 (GRCm39) |
|
probably null |
Het |
| Pnpla8 |
A |
G |
12: 44,329,670 (GRCm39) |
N74S |
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,994,834 (GRCm39) |
I276N |
probably damaging |
Het |
| Qprt |
C |
T |
7: 126,708,416 (GRCm39) |
G5D |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,646,614 (GRCm39) |
N154S |
probably damaging |
Het |
| Rin3 |
G |
A |
12: 102,279,378 (GRCm39) |
|
probably benign |
Het |
| Sdf4 |
C |
T |
4: 156,080,761 (GRCm39) |
P37S |
probably damaging |
Het |
| Selp |
A |
T |
1: 163,964,811 (GRCm39) |
D491V |
probably damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,824,696 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,016 (GRCm39) |
Y268C |
probably damaging |
Het |
| Tas2r134 |
A |
G |
2: 51,517,880 (GRCm39) |
R120G |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,673 (GRCm39) |
R509G |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,314,753 (GRCm39) |
Y231N |
probably damaging |
Het |
| Ttc41 |
C |
T |
10: 86,594,210 (GRCm39) |
T881I |
probably benign |
Het |
| Ttll8 |
T |
C |
15: 88,816,931 (GRCm39) |
Y271C |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,778,328 (GRCm39) |
I1307K |
possibly damaging |
Het |
| Ube2k |
A |
G |
5: 65,723,411 (GRCm39) |
D48G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,069 (GRCm39) |
T3126A |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,540 (GRCm39) |
T1656A |
probably benign |
Het |
| Zzz3 |
C |
A |
3: 152,157,759 (GRCm39) |
S777R |
possibly 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 |
|
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 |
|
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'- GGCGTCTCAGAGAGAATGCTTAG -3'
(R):5'- TTCTCTCCTAGAATCCATCGGG -3'
Sequencing Primer
(F):5'- GATTCAGCCACTCGGACAGATTG -3'
(R):5'- TAGAATCCATCGGGCAAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation