Incidental Mutation 'R7290:Tasor'
| ID |
566356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
045362-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27160610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 124
(I124N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022450
AA Change: I124N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: I124N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,921,714 (GRCm39) |
M1447L |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,070,257 (GRCm39) |
V697I |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,277,452 (GRCm39) |
N689D |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,813,906 (GRCm39) |
K753R |
probably benign |
Het |
| Adra2a |
T |
C |
19: 54,034,835 (GRCm39) |
F64L |
probably damaging |
Het |
| Ankub1 |
A |
G |
3: 57,580,345 (GRCm39) |
L104P |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,988,719 (GRCm39) |
V10A |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,962,047 (GRCm39) |
N1165K |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,880,060 (GRCm39) |
D279V |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,099 (GRCm38) |
D310E |
probably damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,615 (GRCm39) |
I249V |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,212,620 (GRCm39) |
N1598S |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,682 (GRCm39) |
Q2202H |
probably benign |
Het |
| Ces5a |
T |
A |
8: 94,261,311 (GRCm39) |
T35S |
probably damaging |
Het |
| Cnot11 |
G |
A |
1: 39,579,020 (GRCm39) |
W295* |
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,149,619 (GRCm39) |
W565L |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,569,468 (GRCm39) |
E148G |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,455,739 (GRCm39) |
D955N |
probably benign |
Het |
| Erbin |
G |
A |
13: 103,998,834 (GRCm39) |
T184I |
probably damaging |
Het |
| Fam20c |
G |
T |
5: 138,793,309 (GRCm39) |
G477W |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,309,262 (GRCm39) |
V433A |
probably benign |
Het |
| Gal3st1 |
A |
T |
11: 3,948,093 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,380 (GRCm39) |
F221S |
probably damaging |
Het |
| Gm19965 |
G |
A |
1: 116,748,921 (GRCm39) |
V201M |
|
Het |
| Gnb1l |
A |
T |
16: 18,382,806 (GRCm39) |
T282S |
probably benign |
Het |
| Gpr171 |
A |
T |
3: 59,005,147 (GRCm39) |
N209K |
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,761,739 (GRCm39) |
T547I |
probably damaging |
Het |
| Ifi214 |
A |
T |
1: 173,357,097 (GRCm39) |
V2E |
probably benign |
Het |
| Ighv1-71 |
T |
C |
12: 115,706,267 (GRCm39) |
M1V |
probably null |
Het |
| Itm2b |
C |
T |
14: 73,605,785 (GRCm39) |
G67D |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,851,432 (GRCm39) |
C995* |
probably null |
Het |
| Kifc2 |
A |
T |
15: 76,544,904 (GRCm39) |
Y13F |
probably damaging |
Het |
| Lamb1 |
T |
A |
12: 31,315,595 (GRCm39) |
V59D |
probably benign |
Het |
| Lhx1 |
A |
T |
11: 84,412,703 (GRCm39) |
D163E |
probably damaging |
Het |
| Lrrc1 |
A |
T |
9: 77,365,121 (GRCm39) |
Y187N |
probably benign |
Het |
| Map3k1 |
C |
A |
13: 111,904,645 (GRCm39) |
V380F |
probably damaging |
Het |
| Mapk11 |
T |
C |
15: 89,028,511 (GRCm39) |
D283G |
probably damaging |
Het |
| Mccc2 |
G |
T |
13: 100,091,207 (GRCm39) |
A430D |
probably damaging |
Het |
| Mest |
A |
G |
6: 30,747,158 (GRCm39) |
N340S |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,517,139 (GRCm39) |
L340P |
probably benign |
Het |
| Mrnip |
A |
G |
11: 50,087,808 (GRCm39) |
Y110C |
possibly damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,502,063 (GRCm39) |
T706A |
probably benign |
Het |
| Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
| Ncstn |
A |
G |
1: 171,900,373 (GRCm39) |
F234S |
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,202,777 (GRCm39) |
|
probably null |
Het |
| Nup37 |
T |
G |
10: 88,010,356 (GRCm39) |
C217G |
probably damaging |
Het |
| Or8g22 |
A |
G |
9: 38,958,694 (GRCm39) |
L7P |
unknown |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,206 (GRCm39) |
N820S |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,587,225 (GRCm39) |
F117Y |
possibly damaging |
Het |
| Phip |
A |
T |
9: 82,753,346 (GRCm39) |
F1799L |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,728,819 (GRCm39) |
F74I |
probably benign |
Het |
| Prpf8 |
C |
A |
11: 75,384,783 (GRCm39) |
N775K |
possibly damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,693 (GRCm39) |
I167T |
possibly damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,501,892 (GRCm39) |
|
probably null |
Het |
| Rbl2 |
C |
A |
8: 91,841,669 (GRCm39) |
A955D |
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,420,146 (GRCm39) |
S366P |
possibly damaging |
Het |
| Rit2 |
A |
T |
18: 31,376,221 (GRCm39) |
M38K |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,801,408 (GRCm39) |
M1011V |
probably benign |
Het |
| Senp6 |
A |
T |
9: 80,043,797 (GRCm39) |
E809D |
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,269,045 (GRCm39) |
|
probably null |
Het |
| Taar3 |
T |
G |
10: 23,826,298 (GRCm39) |
Y281* |
probably null |
Het |
| Tacc2 |
G |
T |
7: 130,331,103 (GRCm39) |
K352N |
probably benign |
Het |
| Tamalin |
G |
A |
15: 101,129,419 (GRCm39) |
S234N |
probably damaging |
Het |
| Tdpoz4 |
G |
A |
3: 93,704,155 (GRCm39) |
V151I |
not run |
Het |
| Tenm2 |
A |
G |
11: 35,914,298 (GRCm39) |
L2413P |
probably damaging |
Het |
| Tgm6 |
T |
C |
2: 129,983,110 (GRCm39) |
V233A |
probably damaging |
Het |
| Tlx3 |
G |
A |
11: 33,153,514 (GRCm39) |
|
probably benign |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Trim23 |
C |
A |
13: 104,323,941 (GRCm39) |
H133Q |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,640,356 (GRCm39) |
D1421V |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,360,048 (GRCm39) |
N311S |
unknown |
Het |
| Vps25 |
T |
A |
11: 101,149,775 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wbp1l |
G |
T |
19: 46,611,876 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
A |
G |
18: 44,970,558 (GRCm39) |
I291V |
possibly damaging |
Het |
| Zfp2 |
A |
G |
11: 50,791,570 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfp786 |
G |
A |
6: 47,796,929 (GRCm39) |
P670S |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,442 (GRCm39) |
R339H |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,294 (GRCm39) |
A1025V |
possibly damaging |
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 |
|
R0147:Tasor
|
UTSW |
14 |
27,193,725 (GRCm39) |
missense |
probably benign |
0.23 |
|
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 |
|
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'- ACTCTTGCATGCCATAAAGTAACTG -3'
(R):5'- TTTCAGGATTCTGGGTAACTACAC -3'
Sequencing Primer
(F):5'- CCATAAAGTAACTGTTGGGGCC -3'
(R):5'- GAGTCAGACCCTGGTTTAATTCCTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation