Incidental Mutation 'R1965:Tasor'
ID |
218310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tasor
|
Ensembl Gene |
ENSMUSG00000040651 |
Gene Name |
transcription activation suppressor |
Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
MMRRC Submission |
039978-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1965 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 27164511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 272
(C272W)
|
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: C272W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022450 Gene: ENSMUSG00000040651 AA Change: C272W
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223970
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
T |
G |
4: 40,175,730 (GRCm39) |
L157R |
probably damaging |
Het |
Acot11 |
A |
T |
4: 106,606,550 (GRCm39) |
L513Q |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,170,755 (GRCm39) |
I52T |
probably benign |
Het |
Ap2b1 |
T |
C |
11: 83,237,721 (GRCm39) |
I557T |
probably benign |
Het |
Arel1 |
T |
A |
12: 84,987,173 (GRCm39) |
|
probably null |
Het |
Arg1 |
T |
A |
10: 24,792,762 (GRCm39) |
|
probably null |
Het |
Atf1 |
A |
T |
15: 100,152,052 (GRCm39) |
M135L |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,681,242 (GRCm39) |
E77G |
possibly damaging |
Het |
Axin1 |
G |
T |
17: 26,403,199 (GRCm39) |
A394S |
probably damaging |
Het |
Axin1 |
A |
T |
17: 26,409,202 (GRCm39) |
Q734L |
probably damaging |
Het |
Brd8 |
G |
C |
18: 34,735,819 (GRCm39) |
A886G |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,392,634 (GRCm39) |
V35A |
probably damaging |
Het |
Cfap299 |
T |
A |
5: 98,494,093 (GRCm39) |
D32E |
probably damaging |
Het |
Ckap2 |
T |
C |
8: 22,665,803 (GRCm39) |
T415A |
possibly damaging |
Het |
Crybg3 |
T |
C |
16: 59,323,600 (GRCm39) |
Y1066C |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,713,144 (GRCm39) |
H1506R |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,852,267 (GRCm39) |
D1808G |
probably damaging |
Het |
Dsc3 |
C |
T |
18: 20,113,729 (GRCm39) |
G398R |
probably damaging |
Het |
Emc2 |
A |
G |
15: 43,390,863 (GRCm39) |
Q293R |
probably damaging |
Het |
Evc2 |
A |
G |
5: 37,520,876 (GRCm39) |
N251D |
possibly damaging |
Het |
Fam151a |
A |
T |
4: 106,591,112 (GRCm39) |
|
probably benign |
Het |
Fbxw16 |
T |
A |
9: 109,270,289 (GRCm39) |
I151F |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
Fnip2 |
G |
A |
3: 79,400,779 (GRCm39) |
T314I |
probably benign |
Het |
Foxc2 |
T |
A |
8: 121,843,413 (GRCm39) |
S20R |
probably damaging |
Het |
Fpr-rs6 |
C |
T |
17: 20,402,918 (GRCm39) |
G148R |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,823,124 (GRCm39) |
S6286P |
possibly damaging |
Het |
Fyb2 |
A |
T |
4: 104,770,846 (GRCm39) |
I54F |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,260,003 (GRCm39) |
F999L |
probably damaging |
Het |
Gldc |
G |
A |
19: 30,114,513 (GRCm39) |
R466* |
probably null |
Het |
Gm12695 |
T |
A |
4: 96,651,082 (GRCm39) |
S124C |
probably benign |
Het |
Gm4846 |
A |
T |
1: 166,314,533 (GRCm39) |
I370N |
possibly damaging |
Het |
Gsdmc3 |
T |
C |
15: 63,730,296 (GRCm39) |
T423A |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Kcnmb3 |
T |
C |
3: 32,526,492 (GRCm39) |
Y233C |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,044,905 (GRCm39) |
D191G |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,732,757 (GRCm39) |
|
probably benign |
Het |
Krt1 |
T |
C |
15: 101,757,427 (GRCm39) |
D261G |
probably benign |
Het |
Lrba |
A |
G |
3: 86,513,175 (GRCm39) |
|
probably null |
Het |
Myo1f |
C |
T |
17: 33,817,146 (GRCm39) |
R730* |
probably null |
Het |
Ncoa7 |
C |
A |
10: 30,530,426 (GRCm39) |
E30* |
probably null |
Het |
Neurod4 |
T |
A |
10: 130,106,918 (GRCm39) |
K119* |
probably null |
Het |
Npy5r |
T |
C |
8: 67,133,929 (GRCm39) |
D288G |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,636,092 (GRCm39) |
I398L |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
Or12j4 |
C |
A |
7: 140,046,574 (GRCm39) |
F153L |
probably benign |
Het |
Or4b1 |
T |
C |
2: 89,979,748 (GRCm39) |
S201G |
probably damaging |
Het |
Or4k35 |
T |
C |
2: 111,099,938 (GRCm39) |
Y258C |
probably damaging |
Het |
Or51v8 |
A |
T |
7: 103,320,103 (GRCm39) |
I45N |
probably damaging |
Het |
Or5g25 |
T |
C |
2: 85,478,090 (GRCm39) |
T192A |
possibly damaging |
Het |
Or5w8 |
A |
G |
2: 87,687,759 (GRCm39) |
K80R |
probably benign |
Het |
Or9m1b |
A |
G |
2: 87,836,648 (GRCm39) |
F149S |
probably damaging |
Het |
P3r3urf |
G |
A |
4: 116,031,376 (GRCm39) |
C82Y |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,310,809 (GRCm39) |
M393K |
probably benign |
Het |
Pck2 |
T |
C |
14: 55,779,964 (GRCm39) |
V71A |
probably benign |
Het |
Pdzd8 |
G |
T |
19: 59,288,554 (GRCm39) |
L949I |
probably benign |
Het |
Pdzrn4 |
G |
A |
15: 92,644,190 (GRCm39) |
|
probably null |
Het |
Phospho1 |
A |
G |
11: 95,721,705 (GRCm39) |
N125S |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Ppid |
A |
T |
3: 79,509,606 (GRCm39) |
K308* |
probably null |
Het |
Ppp1r1b |
A |
G |
11: 98,246,189 (GRCm39) |
E57G |
probably damaging |
Het |
Prtg |
T |
G |
9: 72,755,604 (GRCm39) |
S269A |
probably benign |
Het |
Rbbp5 |
T |
A |
1: 132,422,035 (GRCm39) |
S312T |
probably damaging |
Het |
Rbm11 |
T |
A |
16: 75,395,656 (GRCm39) |
|
probably null |
Het |
Retreg1 |
A |
G |
15: 25,970,250 (GRCm39) |
T139A |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,270,019 (GRCm39) |
H120Q |
probably damaging |
Het |
Rln1 |
A |
T |
19: 29,311,995 (GRCm39) |
M1K |
probably null |
Het |
Rpp30 |
C |
T |
19: 36,066,549 (GRCm39) |
S94L |
probably damaging |
Het |
Sccpdh |
C |
T |
1: 179,511,879 (GRCm39) |
P117L |
probably damaging |
Het |
Serac1 |
T |
C |
17: 6,099,274 (GRCm39) |
K506E |
possibly damaging |
Het |
Serping1 |
G |
T |
2: 84,596,072 (GRCm39) |
T454K |
probably damaging |
Het |
Slc1a2 |
T |
A |
2: 102,570,245 (GRCm39) |
N174K |
probably damaging |
Het |
Slc2a2 |
A |
G |
3: 28,773,634 (GRCm39) |
Q313R |
probably damaging |
Het |
Slc46a2 |
T |
A |
4: 59,914,249 (GRCm39) |
S225C |
probably damaging |
Het |
Smarcc2 |
G |
A |
10: 128,310,627 (GRCm39) |
E419K |
probably damaging |
Het |
Stkld1 |
T |
A |
2: 26,836,744 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
G |
4: 118,241,162 (GRCm39) |
M1704T |
probably benign |
Het |
Tfcp2l1 |
C |
T |
1: 118,580,653 (GRCm39) |
Q116* |
probably null |
Het |
Timm44 |
A |
G |
8: 4,310,603 (GRCm39) |
M383T |
possibly damaging |
Het |
Tnpo2 |
G |
A |
8: 85,771,946 (GRCm39) |
|
probably null |
Het |
Tnrc6b |
A |
G |
15: 80,764,640 (GRCm39) |
K714R |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 102,099,178 (GRCm39) |
L290P |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,177,709 (GRCm39) |
F898L |
probably damaging |
Het |
Zfp120 |
A |
T |
2: 149,959,318 (GRCm39) |
C335S |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
Zfp879 |
A |
T |
11: 50,724,355 (GRCm39) |
C234S |
probably 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 |
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'- ACATGTTGGTGATGTAAGTAGGTTAAC -3'
(R):5'- CAGGCATTCCAAGAGGTGC -3'
Sequencing Primer
(F):5'- ATCATGTTAAGTGGACACtt -3'
(R):5'- CTTAACAAGCCAGGTGAGTATCCTG -3'
|
Posted On |
2014-08-01 |