Incidental Mutation 'R9420:Tasor'
| ID |
712299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27163927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 238
(I238F)
|
| 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: I238F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: I238F
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,912,277 (GRCm39) |
I56T |
probably benign |
Het |
| Adissp |
T |
C |
2: 130,993,682 (GRCm39) |
|
probably null |
Het |
| Akr1c12 |
A |
G |
13: 4,325,796 (GRCm39) |
L99S |
probably damaging |
Het |
| Azin1 |
C |
A |
15: 38,493,871 (GRCm39) |
V251F |
possibly damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| C2cd3 |
A |
T |
7: 100,065,262 (GRCm39) |
M305L |
|
Het |
| Casz1 |
A |
G |
4: 149,023,320 (GRCm39) |
T742A |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,352,426 (GRCm39) |
|
probably null |
Het |
| Clec2e |
T |
A |
6: 129,071,420 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Crisp2 |
T |
A |
17: 41,094,724 (GRCm39) |
N117I |
possibly damaging |
Het |
| Ddx52 |
A |
T |
11: 83,833,008 (GRCm39) |
D2V |
probably damaging |
Het |
| Dmpk |
T |
A |
7: 18,824,946 (GRCm39) |
V442E |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,368,942 (GRCm39) |
M1654K |
probably benign |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,885,054 (GRCm39) |
V411A |
probably damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fry |
A |
G |
5: 150,356,994 (GRCm39) |
E1847G |
possibly damaging |
Het |
| Gck |
A |
G |
11: 5,899,553 (GRCm39) |
|
probably null |
Het |
| Gga2 |
T |
C |
7: 121,603,195 (GRCm39) |
D167G |
probably damaging |
Het |
| Gprc6a |
A |
G |
10: 51,491,506 (GRCm39) |
S748P |
probably damaging |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,643 (GRCm39) |
R216G |
probably benign |
Het |
| H2-M2 |
T |
A |
17: 37,792,215 (GRCm39) |
I312F |
probably benign |
Het |
| Havcr2 |
A |
T |
11: 46,347,350 (GRCm39) |
Y109F |
probably damaging |
Het |
| Hoga1 |
T |
C |
19: 42,048,333 (GRCm39) |
V67A |
|
Het |
| Ift70b |
T |
A |
2: 75,768,391 (GRCm39) |
I121F |
possibly damaging |
Het |
| Kcnk12 |
C |
A |
17: 88,104,507 (GRCm39) |
V126L |
possibly damaging |
Het |
| Klc1 |
A |
G |
12: 111,738,950 (GRCm39) |
E66G |
probably damaging |
Het |
| Klhl2 |
A |
T |
8: 65,205,870 (GRCm39) |
Y350* |
probably null |
Het |
| Letm1 |
T |
C |
5: 33,926,802 (GRCm39) |
H165R |
probably damaging |
Het |
| Luc7l2 |
T |
C |
6: 38,547,489 (GRCm39) |
C36R |
probably damaging |
Het |
| Mab21l1 |
A |
G |
3: 55,690,674 (GRCm39) |
N87S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,678,414 (GRCm39) |
T681A |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,312,790 (GRCm39) |
T904I |
possibly damaging |
Het |
| Mrpl38 |
A |
G |
11: 116,023,276 (GRCm39) |
S326P |
probably damaging |
Het |
| Mtr |
T |
G |
13: 12,268,764 (GRCm39) |
K32N |
probably benign |
Het |
| Mybpc3 |
T |
A |
2: 90,965,478 (GRCm39) |
C1128* |
probably null |
Het |
| Ncdn |
T |
C |
4: 126,645,762 (GRCm39) |
D49G |
probably damaging |
Het |
| Nfkbiz |
G |
A |
16: 55,642,337 (GRCm39) |
T27I |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,653,866 (GRCm39) |
Y38* |
probably null |
Het |
| Nrxn2 |
A |
G |
19: 6,581,931 (GRCm39) |
E1622G |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,626,964 (GRCm39) |
I373T |
probably damaging |
Het |
| Or4c58 |
T |
C |
2: 89,674,715 (GRCm39) |
I201V |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,980 (GRCm39) |
S317P |
possibly damaging |
Het |
| Osbp2 |
A |
G |
11: 3,662,170 (GRCm39) |
S228P |
probably damaging |
Het |
| Pbx3 |
C |
T |
2: 34,103,348 (GRCm39) |
R208Q |
probably damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,864,838 (GRCm39) |
V211A |
probably benign |
Het |
| Pi16 |
C |
T |
17: 29,544,899 (GRCm39) |
T151M |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,420,933 (GRCm39) |
I1068T |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,035,154 (GRCm39) |
Y309N |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
| Serpina3g |
G |
C |
12: 104,206,518 (GRCm39) |
E106D |
probably benign |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Son |
G |
C |
16: 91,454,508 (GRCm39) |
R1085P |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,612,675 (GRCm39) |
A75S |
probably benign |
Het |
| Tmem232 |
C |
A |
17: 65,792,881 (GRCm39) |
Q105H |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 79,060,390 (GRCm39) |
I437V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,621,887 (GRCm39) |
I15552L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,750,313 (GRCm39) |
T3579S |
probably benign |
Het |
| Vps11 |
A |
G |
9: 44,267,719 (GRCm39) |
F298L |
probably benign |
Het |
| Wbp11 |
T |
C |
6: 136,791,259 (GRCm39) |
T625A |
unknown |
Het |
| Xylb |
T |
A |
9: 119,215,428 (GRCm39) |
N460K |
probably damaging |
Het |
| Znrf4 |
C |
A |
17: 56,819,218 (GRCm39) |
V30F |
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 |
|
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 |
|
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'- TCCTAATTGCAGTATACCTATAGTCAC -3'
(R):5'- CTTTCATTTGGAAAATGGAGGTGGAAG -3'
Sequencing Primer
(F):5'- GCTTTTAAAAAGTTGTCATACCTCC -3'
(R):5'- ATGCTGGCAGTGACATAGCTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation