Incidental Mutation 'R0147:Tasor'
ID |
22641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tasor
|
Ensembl Gene |
ENSMUSG00000040651 |
Gene Name |
transcription activation suppressor |
Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
MMRRC Submission |
038431-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0147 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
14 |
Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27193725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 975
(D975G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022450]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022450
AA Change: D975G
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000022450 Gene: ENSMUSG00000040651 AA Change: D975G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
27 |
N/A |
INTRINSIC |
low complexity region
|
42 |
61 |
N/A |
INTRINSIC |
low complexity region
|
74 |
88 |
N/A |
INTRINSIC |
Pfam:DUF3715
|
153 |
314 |
1.5e-55 |
PFAM |
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1102 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0587 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 94.5%
- 20x: 86.1%
|
Validation Efficiency |
67% (88/131) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for ENU mutations are not viable past gastrulation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(26) : Gene trapped(26) |
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,639,405 (GRCm39) |
|
probably null |
Het |
Abtb2 |
A |
G |
2: 103,397,480 (GRCm39) |
I137V |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,613,993 (GRCm39) |
N1545K |
probably damaging |
Het |
Arl6 |
T |
C |
16: 59,439,153 (GRCm39) |
|
probably benign |
Het |
Avl9 |
T |
A |
6: 56,713,487 (GRCm39) |
D248E |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,192,562 (GRCm39) |
E40G |
probably damaging |
Het |
Bod1l |
G |
T |
5: 41,976,040 (GRCm39) |
A1758E |
possibly damaging |
Het |
Btbd16 |
C |
T |
7: 130,381,324 (GRCm39) |
T19I |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,713,325 (GRCm39) |
N246K |
possibly damaging |
Het |
Celf1 |
G |
T |
2: 90,835,035 (GRCm39) |
|
probably benign |
Het |
Chrm3 |
G |
T |
13: 9,928,780 (GRCm39) |
N85K |
probably damaging |
Het |
Cluh |
T |
A |
11: 74,556,764 (GRCm39) |
Y935N |
probably damaging |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,802,993 (GRCm39) |
D1324G |
unknown |
Het |
Ctcfl |
T |
C |
2: 172,960,340 (GRCm39) |
D81G |
possibly damaging |
Het |
D630003M21Rik |
C |
T |
2: 158,044,987 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
C |
T |
8: 84,449,105 (GRCm39) |
R298C |
possibly damaging |
Het |
Dnmt3b |
T |
G |
2: 153,503,377 (GRCm39) |
N9K |
possibly damaging |
Het |
Dock8 |
T |
C |
19: 25,096,823 (GRCm39) |
L577P |
probably benign |
Het |
Drc1 |
A |
T |
5: 30,486,487 (GRCm39) |
N13I |
possibly damaging |
Het |
Eml4 |
T |
A |
17: 83,729,081 (GRCm39) |
N85K |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 33,931,853 (GRCm39) |
T581A |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,433,307 (GRCm39) |
D446G |
possibly damaging |
Het |
Fam209 |
G |
T |
2: 172,315,900 (GRCm39) |
G92C |
probably damaging |
Het |
Fam98c |
T |
A |
7: 28,852,146 (GRCm39) |
R340* |
probably null |
Het |
Fbxw10 |
T |
G |
11: 62,738,307 (GRCm39) |
|
probably null |
Het |
Galr1 |
A |
G |
18: 82,423,695 (GRCm39) |
L194P |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,122 (GRCm39) |
H89R |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,267,362 (GRCm39) |
Y519F |
probably benign |
Het |
Gm28042 |
T |
A |
2: 119,866,944 (GRCm39) |
S196T |
probably benign |
Het |
Grid2 |
T |
C |
6: 64,510,571 (GRCm39) |
Y734H |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,750,144 (GRCm39) |
I466N |
possibly damaging |
Het |
Hectd3 |
T |
C |
4: 116,854,237 (GRCm39) |
|
probably benign |
Het |
Hpse2 |
A |
C |
19: 42,920,099 (GRCm39) |
|
probably null |
Het |
Hspb7 |
T |
C |
4: 141,151,302 (GRCm39) |
I148T |
probably damaging |
Het |
Htr1d |
C |
A |
4: 136,170,788 (GRCm39) |
T339K |
probably damaging |
Het |
Ip6k1 |
T |
A |
9: 107,923,093 (GRCm39) |
D408E |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,057,568 (GRCm39) |
M288K |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,392,897 (GRCm39) |
C225S |
probably damaging |
Het |
Knop1 |
C |
A |
7: 118,445,061 (GRCm39) |
R301L |
probably benign |
Het |
Lama5 |
T |
C |
2: 179,832,199 (GRCm39) |
H1714R |
probably benign |
Het |
Mettl14 |
G |
A |
3: 123,165,043 (GRCm39) |
T316I |
probably damaging |
Het |
Mmp15 |
A |
T |
8: 96,098,945 (GRCm39) |
N591Y |
probably benign |
Het |
Mprip |
T |
A |
11: 59,627,899 (GRCm39) |
D93E |
possibly damaging |
Het |
Mtmr14 |
T |
A |
6: 113,237,627 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
C |
7: 141,364,776 (GRCm39) |
S1917P |
probably benign |
Het |
Muc6 |
C |
T |
7: 141,238,255 (GRCm39) |
C75Y |
probably damaging |
Het |
Naip1 |
A |
T |
13: 100,563,418 (GRCm39) |
H582Q |
possibly damaging |
Het |
Nbeal2 |
G |
A |
9: 110,471,211 (GRCm39) |
R264* |
probably null |
Het |
Neb |
T |
C |
2: 52,139,388 (GRCm39) |
K140E |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,706,026 (GRCm39) |
V48A |
possibly damaging |
Het |
Ngf |
G |
T |
3: 102,417,119 (GRCm39) |
|
probably benign |
Het |
Nsmce2 |
T |
G |
15: 59,250,806 (GRCm39) |
S26A |
probably damaging |
Het |
Or52s19 |
T |
C |
7: 103,007,613 (GRCm39) |
T263A |
possibly damaging |
Het |
Or5m13b |
T |
A |
2: 85,754,362 (GRCm39) |
I250N |
possibly damaging |
Het |
Or7e177 |
T |
G |
9: 20,212,387 (GRCm39) |
M297R |
probably damaging |
Het |
Pax1 |
A |
G |
2: 147,215,654 (GRCm39) |
S424G |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,630,235 (GRCm39) |
Q10L |
probably benign |
Het |
Pdcl |
T |
C |
2: 37,242,142 (GRCm39) |
I203V |
probably benign |
Het |
Pknox1 |
T |
A |
17: 31,823,764 (GRCm39) |
N379K |
probably benign |
Het |
Plxna1 |
C |
T |
6: 89,297,692 (GRCm39) |
A1831T |
possibly damaging |
Het |
Prodh |
T |
G |
16: 17,895,677 (GRCm39) |
Q360P |
probably damaging |
Het |
Pygo2 |
T |
C |
3: 89,340,610 (GRCm39) |
V299A |
probably damaging |
Het |
Raf1 |
C |
T |
6: 115,609,934 (GRCm39) |
G202S |
probably benign |
Het |
Rgs11 |
T |
A |
17: 26,426,433 (GRCm39) |
|
probably null |
Het |
Rmc1 |
C |
T |
18: 12,322,328 (GRCm39) |
R594C |
probably damaging |
Het |
Rnf13 |
A |
G |
3: 57,709,889 (GRCm39) |
D144G |
probably damaging |
Het |
Rtel1 |
T |
C |
2: 180,962,839 (GRCm39) |
C31R |
probably damaging |
Het |
Rubcnl |
T |
A |
14: 75,279,898 (GRCm39) |
I427K |
probably damaging |
Het |
Sec23ip |
C |
T |
7: 128,380,775 (GRCm39) |
|
probably benign |
Het |
Slc25a26 |
T |
A |
6: 94,569,507 (GRCm39) |
|
probably null |
Het |
Slc6a7 |
A |
G |
18: 61,135,183 (GRCm39) |
|
probably benign |
Het |
Slco6b1 |
A |
T |
1: 96,915,562 (GRCm39) |
|
noncoding transcript |
Het |
Spata17 |
A |
G |
1: 186,844,798 (GRCm39) |
V111A |
probably damaging |
Het |
Spata22 |
T |
A |
11: 73,221,979 (GRCm39) |
M1K |
probably null |
Het |
Svep1 |
C |
T |
4: 58,116,608 (GRCm39) |
D881N |
possibly damaging |
Het |
Sypl2 |
T |
A |
3: 108,126,411 (GRCm39) |
N67I |
possibly damaging |
Het |
Tenm3 |
T |
C |
8: 48,689,755 (GRCm39) |
Y1944C |
probably damaging |
Het |
Tm9sf4 |
G |
T |
2: 153,037,233 (GRCm39) |
V365L |
probably benign |
Het |
Tmc3 |
T |
C |
7: 83,256,950 (GRCm39) |
V401A |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,761,659 (GRCm39) |
G997D |
probably damaging |
Het |
Unc5b |
A |
T |
10: 60,608,076 (GRCm39) |
S675T |
probably damaging |
Het |
Vmn1r217 |
A |
G |
13: 23,298,107 (GRCm39) |
M265T |
probably benign |
Het |
Vps54 |
T |
A |
11: 21,250,259 (GRCm39) |
D548E |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,065,277 (GRCm39) |
V1297A |
probably benign |
Het |
Wdr46 |
T |
A |
17: 34,159,997 (GRCm39) |
F70I |
probably benign |
Het |
Zdbf2 |
C |
T |
1: 63,343,165 (GRCm39) |
Q515* |
probably null |
Het |
Zfp710 |
T |
A |
7: 79,731,721 (GRCm39) |
C299* |
probably null |
Het |
|
Other mutations in Tasor |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00093:Tasor
|
APN |
14 |
27,170,163 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00467:Tasor
|
APN |
14 |
27,170,121 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01071:Tasor
|
APN |
14 |
27,164,579 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01351:Tasor
|
APN |
14 |
27,186,258 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01375:Tasor
|
APN |
14 |
27,162,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01509:Tasor
|
APN |
14 |
27,181,731 (GRCm39) |
splice site |
probably benign |
|
IGL02342:Tasor
|
APN |
14 |
27,198,624 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03105:Tasor
|
APN |
14 |
27,164,509 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03131:Tasor
|
APN |
14 |
27,183,136 (GRCm39) |
nonsense |
probably null |
|
IGL03248:Tasor
|
APN |
14 |
27,198,649 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03383:Tasor
|
APN |
14 |
27,163,918 (GRCm39) |
missense |
possibly damaging |
0.93 |
balsam
|
UTSW |
14 |
27,183,107 (GRCm39) |
missense |
probably benign |
0.01 |
santa_rosa
|
UTSW |
14 |
27,198,658 (GRCm39) |
splice site |
probably null |
|
D4043:Tasor
|
UTSW |
14 |
27,193,949 (GRCm39) |
missense |
probably benign |
0.07 |
R0512:Tasor
|
UTSW |
14 |
27,168,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R0589:Tasor
|
UTSW |
14 |
27,183,107 (GRCm39) |
missense |
probably benign |
0.01 |
R0609:Tasor
|
UTSW |
14 |
27,183,707 (GRCm39) |
missense |
probably benign |
0.09 |
R0798:Tasor
|
UTSW |
14 |
27,198,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R1107:Tasor
|
UTSW |
14 |
27,201,680 (GRCm39) |
nonsense |
probably null |
|
R1205:Tasor
|
UTSW |
14 |
27,183,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Tasor
|
UTSW |
14 |
27,151,338 (GRCm39) |
missense |
probably benign |
0.00 |
R1376:Tasor
|
UTSW |
14 |
27,151,338 (GRCm39) |
missense |
probably benign |
0.00 |
R1441:Tasor
|
UTSW |
14 |
27,186,217 (GRCm39) |
nonsense |
probably null |
|
R1493:Tasor
|
UTSW |
14 |
27,171,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R1527:Tasor
|
UTSW |
14 |
27,202,050 (GRCm39) |
critical splice donor site |
probably null |
|
R1729:Tasor
|
UTSW |
14 |
27,201,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1752:Tasor
|
UTSW |
14 |
27,193,885 (GRCm39) |
nonsense |
probably null |
|
R1960:Tasor
|
UTSW |
14 |
27,201,746 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1960:Tasor
|
UTSW |
14 |
27,160,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Tasor
|
UTSW |
14 |
27,164,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Tasor
|
UTSW |
14 |
27,183,170 (GRCm39) |
missense |
probably benign |
0.03 |
R2107:Tasor
|
UTSW |
14 |
27,183,744 (GRCm39) |
critical splice donor site |
probably null |
|
R2130:Tasor
|
UTSW |
14 |
27,198,571 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2130:Tasor
|
UTSW |
14 |
27,168,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R2131:Tasor
|
UTSW |
14 |
27,198,571 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2133:Tasor
|
UTSW |
14 |
27,198,571 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2140:Tasor
|
UTSW |
14 |
27,201,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R2184:Tasor
|
UTSW |
14 |
27,188,141 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2279:Tasor
|
UTSW |
14 |
27,164,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R3979:Tasor
|
UTSW |
14 |
27,199,087 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4113:Tasor
|
UTSW |
14 |
27,181,918 (GRCm39) |
nonsense |
probably null |
|
R4434:Tasor
|
UTSW |
14 |
27,171,818 (GRCm39) |
critical splice donor site |
probably null |
|
R4562:Tasor
|
UTSW |
14 |
27,188,265 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4568:Tasor
|
UTSW |
14 |
27,198,658 (GRCm39) |
splice site |
probably null |
|
R4754:Tasor
|
UTSW |
14 |
27,183,052 (GRCm39) |
missense |
probably benign |
|
R4980:Tasor
|
UTSW |
14 |
27,183,382 (GRCm39) |
missense |
probably benign |
0.39 |
R4993:Tasor
|
UTSW |
14 |
27,151,071 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5200:Tasor
|
UTSW |
14 |
27,151,183 (GRCm39) |
missense |
probably benign |
0.41 |
R5316:Tasor
|
UTSW |
14 |
27,193,992 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5599:Tasor
|
UTSW |
14 |
27,201,886 (GRCm39) |
missense |
probably benign |
0.01 |
R5678:Tasor
|
UTSW |
14 |
27,151,080 (GRCm39) |
small insertion |
probably benign |
|
R5680:Tasor
|
UTSW |
14 |
27,151,080 (GRCm39) |
small insertion |
probably benign |
|
R5887:Tasor
|
UTSW |
14 |
27,188,254 (GRCm39) |
nonsense |
probably null |
|
R6181:Tasor
|
UTSW |
14 |
27,194,235 (GRCm39) |
missense |
probably benign |
0.01 |
R6556:Tasor
|
UTSW |
14 |
27,151,215 (GRCm39) |
missense |
probably benign |
|
R6603:Tasor
|
UTSW |
14 |
27,168,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R6829:Tasor
|
UTSW |
14 |
27,164,438 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6864:Tasor
|
UTSW |
14 |
27,183,115 (GRCm39) |
missense |
probably damaging |
0.96 |
R6919:Tasor
|
UTSW |
14 |
27,171,758 (GRCm39) |
nonsense |
probably null |
|
R7046:Tasor
|
UTSW |
14 |
27,194,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Tasor
|
UTSW |
14 |
27,183,608 (GRCm39) |
missense |
probably damaging |
0.97 |
R7064:Tasor
|
UTSW |
14 |
27,194,288 (GRCm39) |
missense |
probably benign |
0.09 |
R7290:Tasor
|
UTSW |
14 |
27,160,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:Tasor
|
UTSW |
14 |
27,193,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R7439:Tasor
|
UTSW |
14 |
27,193,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Tasor
|
UTSW |
14 |
27,188,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R7580:Tasor
|
UTSW |
14 |
27,188,243 (GRCm39) |
missense |
probably benign |
0.29 |
R7726:Tasor
|
UTSW |
14 |
27,169,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R7771:Tasor
|
UTSW |
14 |
27,189,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R7782:Tasor
|
UTSW |
14 |
27,193,901 (GRCm39) |
missense |
probably benign |
0.07 |
R7795:Tasor
|
UTSW |
14 |
27,203,340 (GRCm39) |
missense |
|
|
R7835:Tasor
|
UTSW |
14 |
27,198,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R7954:Tasor
|
UTSW |
14 |
27,169,481 (GRCm39) |
critical splice donor site |
probably null |
|
R7981:Tasor
|
UTSW |
14 |
27,168,373 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8101:Tasor
|
UTSW |
14 |
27,164,438 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8160:Tasor
|
UTSW |
14 |
27,171,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R8307:Tasor
|
UTSW |
14 |
27,193,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R8913:Tasor
|
UTSW |
14 |
27,188,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R9070:Tasor
|
UTSW |
14 |
27,194,484 (GRCm39) |
missense |
probably benign |
0.14 |
R9219:Tasor
|
UTSW |
14 |
27,186,344 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9420:Tasor
|
UTSW |
14 |
27,163,927 (GRCm39) |
missense |
probably damaging |
0.99 |
R9513:Tasor
|
UTSW |
14 |
27,186,271 (GRCm39) |
nonsense |
probably null |
|
R9562:Tasor
|
UTSW |
14 |
27,201,766 (GRCm39) |
critical splice donor site |
probably null |
|
R9565:Tasor
|
UTSW |
14 |
27,201,766 (GRCm39) |
critical splice donor site |
probably null |
|
R9627:Tasor
|
UTSW |
14 |
27,194,123 (GRCm39) |
missense |
probably benign |
|
X0002:Tasor
|
UTSW |
14 |
27,194,063 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1176:Tasor
|
UTSW |
14 |
27,199,105 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tasor
|
UTSW |
14 |
27,151,165 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Tasor
|
UTSW |
14 |
27,170,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCACTTTAGAACACTTGGAAGAACC -3'
(R):5'- AGGCGATTCATCTTCTCTTGTGCTG -3'
Sequencing Primer
(F):5'- CACTTGGAAGAACCTTTCAGTGC -3'
(R):5'- CTCTTGTGCTGAAAAGATAGGTG -3'
|
Posted On |
2013-04-16 |