Incidental Mutation 'R7303:Tasor'
| ID |
567125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
045364-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7303 (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 G
at 27193809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1003
(E1003G)
|
| 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: E1003G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: E1003G
| 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: 99.7%
- 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
G |
17: 24,617,495 (GRCm39) |
L1064R |
possibly damaging |
Het |
| Abca7 |
A |
T |
10: 79,850,822 (GRCm39) |
D2051V |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,875,295 (GRCm39) |
I626F |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,977,774 (GRCm39) |
S333P |
probably damaging |
Het |
| Abl2 |
T |
C |
1: 156,468,820 (GRCm39) |
S695P |
probably benign |
Het |
| Aen |
C |
T |
7: 78,552,204 (GRCm39) |
P55S |
possibly damaging |
Het |
| Afg3l1 |
G |
T |
8: 124,228,008 (GRCm39) |
A598S |
probably damaging |
Het |
| Aldh16a1 |
A |
T |
7: 44,797,328 (GRCm39) |
L160Q |
probably damaging |
Het |
| Ang |
A |
T |
14: 51,338,973 (GRCm39) |
H38L |
probably benign |
Het |
| Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,373,924 (GRCm39) |
K862* |
probably null |
Het |
| Brme1 |
G |
C |
8: 84,887,862 (GRCm39) |
G71A |
probably benign |
Het |
| Cad |
T |
C |
5: 31,217,557 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
A |
T |
19: 40,797,438 (GRCm39) |
Y740F |
unknown |
Het |
| Ccdc182 |
T |
C |
11: 88,185,042 (GRCm39) |
Y41H |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,778,532 (GRCm39) |
R2848G |
unknown |
Het |
| Chrna6 |
A |
T |
8: 27,897,019 (GRCm39) |
L286* |
probably null |
Het |
| Cimap1d |
G |
A |
10: 79,478,525 (GRCm39) |
P80S |
probably benign |
Het |
| Cracr2b |
A |
G |
7: 141,043,115 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,699,568 (GRCm39) |
|
probably null |
Het |
| Flnc |
T |
C |
6: 29,460,849 (GRCm39) |
S2647P |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,145,506 (GRCm39) |
D76G |
probably damaging |
Het |
| Fxyd1 |
T |
A |
7: 30,753,743 (GRCm39) |
M17L |
probably benign |
Het |
| Golim4 |
G |
A |
3: 75,785,360 (GRCm39) |
S677L |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,502,491 (GRCm39) |
V455A |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,540,312 (GRCm39) |
S132R |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,659,037 (GRCm39) |
I163V |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,358,098 (GRCm39) |
D2393V |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,965,762 (GRCm39) |
K44E |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,789,351 (GRCm39) |
D605G |
probably benign |
Het |
| Kbtbd12 |
G |
T |
6: 88,591,094 (GRCm39) |
F16L |
unknown |
Het |
| Klhl23 |
T |
C |
2: 69,655,045 (GRCm39) |
I305T |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,006,411 (GRCm39) |
N7I |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,641,774 (GRCm39) |
L1396P |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,678,637 (GRCm39) |
E13G |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,621,970 (GRCm39) |
V704A |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,165,508 (GRCm39) |
S1303P |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,864,928 (GRCm39) |
D516G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
T |
A |
11: 105,216,629 (GRCm39) |
N139K |
probably damaging |
Het |
| Myh14 |
C |
T |
7: 44,261,125 (GRCm39) |
E1789K |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,460,660 (GRCm39) |
L271Q |
probably damaging |
Het |
| Oog2 |
A |
T |
4: 143,921,912 (GRCm39) |
H274L |
probably benign |
Het |
| Oosp1 |
A |
C |
19: 11,645,774 (GRCm39) |
S121R |
probably benign |
Het |
| Or13a28 |
T |
C |
7: 140,218,267 (GRCm39) |
S218P |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,521,166 (GRCm39) |
V51A |
probably benign |
Het |
| Pepd |
T |
C |
7: 34,721,197 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
A |
C |
7: 116,005,178 (GRCm39) |
S363R |
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,468,868 (GRCm39) |
Y215H |
probably benign |
Het |
| Ppcdc |
A |
T |
9: 57,321,958 (GRCm39) |
V194E |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,509,667 (GRCm39) |
I470S |
probably benign |
Het |
| Scgb1b3 |
G |
A |
7: 31,075,383 (GRCm39) |
A78T |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,083,345 (GRCm39) |
L368Q |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,576 (GRCm39) |
I944F |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,206,805 (GRCm39) |
H3461L |
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,518,145 (GRCm39) |
Y208C |
probably benign |
Het |
| Tm9sf3 |
G |
A |
19: 41,227,198 (GRCm39) |
S291F |
probably damaging |
Het |
| Tra2a |
G |
A |
6: 49,227,921 (GRCm39) |
T69I |
unknown |
Het |
| Ube2q1 |
T |
A |
3: 89,683,898 (GRCm39) |
L171Q |
possibly damaging |
Het |
| Ufd1 |
A |
G |
16: 18,636,715 (GRCm39) |
T78A |
probably damaging |
Het |
| Vmn1r13 |
T |
C |
6: 57,187,587 (GRCm39) |
S249P |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,861,258 (GRCm39) |
S648L |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,058 (GRCm39) |
N224K |
probably benign |
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 |
|
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'- ATCACCAGGAGAACAGCTGG -3'
(R):5'- TCCTCAACACCAGCTTTAGAAG -3'
Sequencing Primer
(F):5'- CCTAATGATCCCCGGGTCATCAATAG -3'
(R):5'- CTCAACACCAGCTTTAGAAGTATTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation