Incidental Mutation 'R2184:Tasor'
| ID |
237383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
040186-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2184 (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 A
at 27188141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 862
(N862K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022450
AA Change: N862K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: N862K
| 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: ENSMUST00000223688
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,019,389 (GRCm39) |
R184G |
probably damaging |
Het |
| 2300002M23Rik |
C |
A |
17: 35,879,115 (GRCm39) |
A151E |
probably benign |
Het |
| A930011G23Rik |
C |
T |
5: 99,380,228 (GRCm39) |
R339Q |
possibly damaging |
Het |
| Abcd2 |
T |
C |
15: 91,075,642 (GRCm39) |
Y57C |
probably benign |
Het |
| Adprhl1 |
A |
G |
8: 13,292,559 (GRCm39) |
V244A |
probably benign |
Het |
| Agl |
T |
C |
3: 116,574,426 (GRCm39) |
N753D |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,486,686 (GRCm39) |
M440L |
probably benign |
Het |
| Angpt2 |
A |
G |
8: 18,742,132 (GRCm39) |
Y475H |
probably benign |
Het |
| Angpt4 |
A |
T |
2: 151,780,874 (GRCm39) |
H374L |
probably damaging |
Het |
| Ank1 |
A |
T |
8: 23,599,270 (GRCm39) |
T801S |
probably damaging |
Het |
| Ap5m1 |
G |
T |
14: 49,323,752 (GRCm39) |
A481S |
probably damaging |
Het |
| AY358078 |
G |
T |
14: 52,063,445 (GRCm39) |
G364W |
probably damaging |
Het |
| C4b |
C |
A |
17: 34,956,676 (GRCm39) |
A641S |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,672,943 (GRCm39) |
Y120C |
probably damaging |
Het |
| Cbx6 |
T |
C |
15: 79,712,762 (GRCm39) |
T222A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,860,254 (GRCm39) |
T192A |
probably damaging |
Het |
| Cdc42bpb |
T |
C |
12: 111,262,478 (GRCm39) |
D30G |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,043,690 (GRCm39) |
Y385H |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,584,542 (GRCm39) |
D612E |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,182,847 (GRCm39) |
R888L |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,517,007 (GRCm39) |
C373* |
probably null |
Het |
| Gabrb2 |
T |
C |
11: 42,312,255 (GRCm39) |
|
probably null |
Het |
| Gle1 |
G |
T |
2: 29,839,030 (GRCm39) |
A482S |
probably damaging |
Het |
| Gm10644 |
T |
C |
8: 84,660,256 (GRCm39) |
T30A |
possibly damaging |
Het |
| Gmnn |
A |
G |
13: 24,937,706 (GRCm39) |
Y95H |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,858,100 (GRCm39) |
S643T |
possibly damaging |
Het |
| Hoga1 |
A |
G |
19: 42,049,830 (GRCm39) |
Y225C |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,609,011 (GRCm39) |
E11G |
probably benign |
Het |
| Hsd17b1 |
C |
A |
11: 100,969,357 (GRCm39) |
S30R |
probably benign |
Het |
| Htr3b |
G |
A |
9: 48,858,544 (GRCm39) |
P112S |
probably damaging |
Het |
| Iqch |
T |
A |
9: 63,432,351 (GRCm39) |
D348V |
probably damaging |
Het |
| Irgm2 |
A |
T |
11: 58,111,254 (GRCm39) |
N327I |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,870,450 (GRCm39) |
I93T |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,357,752 (GRCm39) |
F92L |
probably damaging |
Het |
| Lats2 |
T |
C |
14: 57,929,016 (GRCm39) |
H953R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,620,714 (GRCm39) |
E3588G |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,840,075 (GRCm39) |
E286G |
probably benign |
Het |
| Mc2r |
G |
T |
18: 68,541,196 (GRCm39) |
F32L |
probably benign |
Het |
| Mink1 |
C |
T |
11: 70,494,623 (GRCm39) |
T268M |
probably damaging |
Het |
| Mta1 |
G |
A |
12: 113,093,815 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
A |
7: 141,412,601 (GRCm39) |
S1849* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,957,874 (GRCm39) |
E897G |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,281,819 (GRCm39) |
Q418R |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,478,861 (GRCm39) |
Q626K |
probably benign |
Het |
| Or11h4 |
A |
G |
14: 50,974,059 (GRCm39) |
S187P |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,315 (GRCm39) |
V83A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,343,046 (GRCm39) |
T150A |
probably benign |
Het |
| Or2w25 |
T |
A |
11: 59,503,964 (GRCm39) |
M58K |
probably damaging |
Het |
| Or5w14 |
G |
A |
2: 87,541,549 (GRCm39) |
R234C |
probably damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,489 (GRCm39) |
T91I |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,399 (GRCm39) |
I81V |
probably benign |
Het |
| Pald1 |
C |
T |
10: 61,182,915 (GRCm39) |
A345T |
possibly damaging |
Het |
| Pde8b |
G |
A |
13: 95,162,723 (GRCm39) |
P800S |
probably damaging |
Het |
| Pgm2l1 |
G |
A |
7: 99,917,362 (GRCm39) |
C493Y |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,609,537 (GRCm39) |
S311G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,692 (GRCm39) |
N573D |
possibly damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,583 (GRCm39) |
D128G |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,780,131 (GRCm39) |
S104R |
probably damaging |
Het |
| Pofut2 |
T |
A |
10: 77,103,059 (GRCm39) |
F179I |
probably damaging |
Het |
| Prkcsh |
T |
A |
9: 21,916,028 (GRCm39) |
C112S |
probably damaging |
Het |
| Prss32 |
G |
A |
17: 24,078,297 (GRCm39) |
A328T |
probably benign |
Het |
| Ptgir |
G |
T |
7: 16,642,708 (GRCm39) |
R103L |
probably damaging |
Het |
| Ptpn5 |
G |
A |
7: 46,738,350 (GRCm39) |
S244F |
probably damaging |
Het |
| Rnpepl1 |
G |
A |
1: 92,844,545 (GRCm39) |
V346I |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,825,688 (GRCm39) |
V561D |
probably damaging |
Het |
| Slc22a19 |
A |
T |
19: 7,687,026 (GRCm39) |
Y160N |
probably benign |
Het |
| Sorbs3 |
A |
G |
14: 70,428,880 (GRCm39) |
|
probably null |
Het |
| Sostdc1 |
T |
G |
12: 36,367,295 (GRCm39) |
I157S |
probably damaging |
Het |
| Svil |
G |
T |
18: 5,099,534 (GRCm39) |
R1777L |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,099,615 (GRCm39) |
E1804V |
probably damaging |
Het |
| Thbs4 |
A |
G |
13: 92,911,302 (GRCm39) |
S294P |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,426,111 (GRCm39) |
Y750C |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,418,168 (GRCm39) |
L312P |
probably damaging |
Het |
| Tnip2 |
TCTCCT |
TCT |
5: 34,656,957 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,780,475 (GRCm39) |
M734K |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,070,859 (GRCm39) |
R531W |
probably benign |
Het |
| Ubn2 |
C |
T |
6: 38,461,029 (GRCm39) |
R483W |
probably damaging |
Het |
| Zc3hav1 |
T |
A |
6: 38,284,343 (GRCm39) |
Y924F |
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 |
|
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'- GCAAACACTATTATTTCTGGCTTTGGC -3'
(R):5'- AGATGAAACTCTCCGAGAAACTG -3'
Sequencing Primer
(F):5'- GAACATCTGCTGTGAGGAA -3'
(R):5'- TCTCCGAGAAACTGGTCCTTAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation