Incidental Mutation 'R7726:Tasor'
ID |
595514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tasor
|
Ensembl Gene |
ENSMUSG00000040651 |
Gene Name |
transcription activation suppressor |
Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
MMRRC Submission |
045782-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7726 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 27169454 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 338
(N338K)
|
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: N338K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022450 Gene: ENSMUSG00000040651 AA Change: N338K
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
G |
8: 44,104,208 (GRCm39) |
N479T |
probably damaging |
Het |
Add3 |
C |
G |
19: 53,227,892 (GRCm39) |
L526V |
probably damaging |
Het |
Alas1 |
T |
C |
9: 106,124,150 (GRCm39) |
T3A |
probably benign |
Het |
Arap3 |
C |
T |
18: 38,122,520 (GRCm39) |
D579N |
probably damaging |
Het |
Armc6 |
C |
A |
8: 70,675,248 (GRCm39) |
D326Y |
probably damaging |
Het |
Atp6v1e2 |
G |
A |
17: 87,251,813 (GRCm39) |
T195I |
probably damaging |
Het |
Atrnl1 |
A |
G |
19: 57,690,504 (GRCm39) |
E904G |
probably damaging |
Het |
Bhlhe40 |
T |
A |
6: 108,639,559 (GRCm39) |
D112E |
probably benign |
Het |
Brf1 |
T |
G |
12: 112,927,865 (GRCm39) |
K438T |
probably benign |
Het |
Cabs1 |
A |
T |
5: 88,128,145 (GRCm39) |
E265D |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,429,071 (GRCm39) |
M1937L |
probably benign |
Het |
Cd55b |
A |
T |
1: 130,339,230 (GRCm39) |
S299R |
possibly damaging |
Het |
Chordc1 |
A |
G |
9: 18,213,510 (GRCm39) |
*120W |
probably null |
Het |
Col17a1 |
C |
A |
19: 47,643,629 (GRCm39) |
|
probably null |
Het |
Cpne8 |
A |
T |
15: 90,385,621 (GRCm39) |
I469K |
possibly damaging |
Het |
Crtac1 |
G |
T |
19: 42,290,690 (GRCm39) |
S337* |
probably null |
Het |
Cx3cl1 |
T |
C |
8: 95,506,867 (GRCm39) |
S291P |
probably damaging |
Het |
Dhx36 |
G |
T |
3: 62,396,389 (GRCm39) |
Q423K |
probably benign |
Het |
Eif3h |
G |
T |
15: 51,650,219 (GRCm39) |
Q322K |
possibly damaging |
Het |
Ero1b |
A |
G |
13: 12,620,722 (GRCm39) |
*494W |
probably null |
Het |
Exph5 |
G |
A |
9: 53,284,475 (GRCm39) |
V519I |
possibly damaging |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam222b |
A |
G |
11: 78,044,577 (GRCm39) |
D46G |
probably damaging |
Het |
Fbxl6 |
C |
A |
15: 76,420,086 (GRCm39) |
R509L |
probably damaging |
Het |
Fgf14 |
T |
C |
14: 124,373,656 (GRCm39) |
Y86C |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,860,310 (GRCm39) |
I2119F |
probably benign |
Het |
Gpr37 |
G |
A |
6: 25,669,116 (GRCm39) |
T576I |
possibly damaging |
Het |
Hnrnpul2 |
G |
T |
19: 8,808,644 (GRCm39) |
R702L |
possibly damaging |
Het |
Iqgap1 |
T |
C |
7: 80,407,204 (GRCm39) |
N342S |
probably benign |
Het |
Kcnh6 |
T |
C |
11: 105,908,401 (GRCm39) |
V339A |
probably benign |
Het |
Klk1b9 |
A |
T |
7: 43,627,840 (GRCm39) |
N46I |
possibly damaging |
Het |
Kndc1 |
C |
A |
7: 139,519,751 (GRCm39) |
S1703R |
possibly damaging |
Het |
Lyn |
C |
A |
4: 3,756,428 (GRCm39) |
Y306* |
probably null |
Het |
Manba |
C |
T |
3: 135,223,770 (GRCm39) |
T219M |
probably benign |
Het |
Mastl |
T |
C |
2: 23,030,807 (GRCm39) |
|
probably null |
Het |
Med15 |
T |
G |
16: 17,473,038 (GRCm39) |
M550L |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,312 (GRCm39) |
|
probably null |
Het |
Msh4 |
C |
T |
3: 153,571,957 (GRCm39) |
|
probably null |
Het |
Myh6 |
G |
T |
14: 55,202,822 (GRCm39) |
D32E |
probably damaging |
Het |
Ntmt2 |
A |
G |
1: 163,530,753 (GRCm39) |
C229R |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,569,544 (GRCm39) |
D419G |
possibly damaging |
Het |
Nup155 |
C |
T |
15: 8,151,623 (GRCm39) |
P393S |
probably damaging |
Het |
Or2y1d |
T |
A |
11: 49,321,727 (GRCm39) |
C141* |
probably null |
Het |
Or6b2b |
A |
T |
1: 92,419,029 (GRCm39) |
F149L |
probably benign |
Het |
Pakap |
C |
T |
4: 57,709,876 (GRCm39) |
P274S |
probably damaging |
Het |
Papss2 |
A |
T |
19: 32,611,403 (GRCm39) |
|
probably null |
Het |
Pcdhgc3 |
T |
C |
18: 37,939,932 (GRCm39) |
V111A |
possibly damaging |
Het |
Pcnx2 |
C |
T |
8: 126,577,069 (GRCm39) |
V988I |
probably benign |
Het |
Pom121 |
C |
T |
5: 135,407,002 (GRCm39) |
G1178S |
probably damaging |
Het |
Prss33 |
A |
G |
17: 24,053,203 (GRCm39) |
C213R |
probably damaging |
Het |
Scap |
G |
A |
9: 110,207,435 (GRCm39) |
|
probably null |
Het |
Shfl |
T |
C |
9: 20,784,461 (GRCm39) |
Y182H |
possibly damaging |
Het |
Sirpb1c |
T |
A |
3: 15,902,550 (GRCm39) |
I10F |
possibly damaging |
Het |
Slc28a2b |
A |
G |
2: 122,317,214 (GRCm39) |
E25G |
probably damaging |
Het |
Spata31e2 |
C |
A |
1: 26,723,579 (GRCm39) |
A534S |
probably benign |
Het |
Spink5 |
T |
C |
18: 44,096,419 (GRCm39) |
L16P |
probably damaging |
Het |
Sting1 |
C |
T |
18: 35,868,318 (GRCm39) |
A261T |
probably damaging |
Het |
Stk4 |
T |
G |
2: 163,952,146 (GRCm39) |
M1R |
probably null |
Het |
Stub1 |
A |
T |
17: 26,050,106 (GRCm39) |
Y253* |
probably null |
Het |
Tbce |
A |
G |
13: 14,203,875 (GRCm39) |
V29A |
probably damaging |
Het |
Tchhl1 |
A |
G |
3: 93,379,065 (GRCm39) |
R590G |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,186,231 (GRCm39) |
P613L |
unknown |
Het |
Vmn2r3 |
G |
T |
3: 64,182,939 (GRCm39) |
C253* |
probably null |
Het |
Wfdc8 |
C |
A |
2: 164,441,906 (GRCm39) |
E215D |
possibly damaging |
Het |
Zfp874b |
T |
C |
13: 67,621,975 (GRCm39) |
D441G |
probably benign |
Het |
Zscan4d |
G |
T |
7: 10,899,169 (GRCm39) |
P36Q |
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 |
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 |
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'- GTCAAATGTGCTTGATAAGAGGTAC -3'
(R):5'- GTGCTAGAAATTCTGGTCCATCTTC -3'
Sequencing Primer
(F):5'- TGGGAAGAACCTGCCTTAGCTTC -3'
(R):5'- ACACTTAACTTAATCTTTCACTG -3'
|
Posted On |
2019-11-12 |