Incidental Mutation 'R7524:Tasor'
| ID |
582876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
045596-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27188160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 869
(C869S)
|
| 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: C869S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: C869S
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (79/79) |
| 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 |
|---|
| Adam29 |
C |
T |
8: 56,325,395 (GRCm39) |
C353Y |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,906,543 (GRCm39) |
E452V |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,800,415 (GRCm39) |
D45G |
probably benign |
Het |
| Arhgap17 |
G |
A |
7: 122,905,643 (GRCm39) |
P334L |
probably damaging |
Het |
| Asns |
G |
T |
6: 7,677,259 (GRCm39) |
|
probably null |
Het |
| Bend7 |
A |
G |
2: 4,804,791 (GRCm39) |
T424A |
probably benign |
Het |
| Btbd2 |
C |
T |
10: 80,482,278 (GRCm39) |
E241K |
probably damaging |
Het |
| Commd2 |
A |
C |
3: 57,557,569 (GRCm39) |
L99W |
probably damaging |
Het |
| Cpne9 |
A |
T |
6: 113,279,025 (GRCm39) |
D473V |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,347 (GRCm39) |
F423L |
probably damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,340,146 (GRCm39) |
F390L |
probably damaging |
Het |
| Dcaf5 |
T |
A |
12: 80,423,470 (GRCm39) |
Q234L |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,396,095 (GRCm39) |
Y201* |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,012,307 (GRCm39) |
D485G |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,297,212 (GRCm39) |
T1469S |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,095,082 (GRCm39) |
D2167G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,330,974 (GRCm39) |
V4921A |
possibly damaging |
Het |
| Ephb2 |
A |
G |
4: 136,387,020 (GRCm39) |
Y736H |
probably damaging |
Het |
| Eri2 |
C |
G |
7: 119,384,972 (GRCm39) |
V510L |
probably benign |
Het |
| Eya2 |
G |
A |
2: 165,611,246 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
G |
T |
2: 130,458,048 (GRCm39) |
Q181K |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,802,391 (GRCm39) |
S1440P |
probably damaging |
Het |
| Fkbp9 |
G |
A |
6: 56,845,725 (GRCm39) |
V354M |
probably damaging |
Het |
| Frmpd1 |
T |
A |
4: 45,271,181 (GRCm39) |
S304T |
probably benign |
Het |
| Gtf2a2 |
T |
A |
9: 69,922,629 (GRCm39) |
Y3* |
probably null |
Het |
| Hagh |
G |
A |
17: 25,080,314 (GRCm39) |
V226I |
probably benign |
Het |
| Hemk1 |
T |
A |
9: 107,205,484 (GRCm39) |
I293F |
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,944,523 (GRCm39) |
E262G |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,511,793 (GRCm39) |
T983S |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,989,340 (GRCm39) |
H7Q |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,896,460 (GRCm39) |
Q94L |
probably damaging |
Het |
| Krt12 |
T |
C |
11: 99,310,485 (GRCm39) |
D224G |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,742 (GRCm39) |
S289T |
possibly damaging |
Het |
| Man2a2 |
G |
C |
7: 80,018,613 (GRCm39) |
A82G |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,120,293 (GRCm39) |
V60M |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,536,138 (GRCm39) |
F536I |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,281,200 (GRCm39) |
T453A |
unknown |
Het |
| Muc3a |
A |
C |
5: 137,245,020 (GRCm39) |
I151S |
probably benign |
Het |
| Myorg |
C |
A |
4: 41,498,779 (GRCm39) |
V284L |
probably benign |
Het |
| Oaf |
G |
A |
9: 43,134,077 (GRCm39) |
R215C |
probably damaging |
Het |
| Or4c112 |
T |
A |
2: 88,854,315 (GRCm39) |
I11L |
probably benign |
Het |
| Or4c125 |
A |
G |
2: 89,170,221 (GRCm39) |
C142R |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,727,750 (GRCm39) |
I224V |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,701 (GRCm39) |
M145L |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,586 (GRCm39) |
N190D |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,325 (GRCm39) |
Y95* |
probably null |
Het |
| Pcdhgb4 |
A |
T |
18: 37,854,661 (GRCm39) |
D352V |
probably benign |
Het |
| Pced1a |
A |
G |
2: 130,263,948 (GRCm39) |
F235L |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,728,317 (GRCm39) |
I2392V |
unknown |
Het |
| Pld1 |
A |
T |
3: 28,078,470 (GRCm39) |
D43V |
possibly damaging |
Het |
| Ppp1r1b |
C |
A |
11: 98,241,720 (GRCm39) |
A51D |
possibly damaging |
Het |
| Prr23a1 |
T |
A |
9: 98,724,917 (GRCm39) |
L93H |
probably damaging |
Het |
| Psg20 |
T |
C |
7: 18,418,584 (GRCm39) |
D61G |
probably benign |
Het |
| Rab40b |
T |
A |
11: 121,278,878 (GRCm39) |
I31F |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,948,709 (GRCm39) |
F212L |
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,841,821 (GRCm39) |
I1006V |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,074,371 (GRCm39) |
E59G |
probably benign |
Het |
| Slc22a2 |
G |
T |
17: 12,824,944 (GRCm39) |
V269L |
possibly damaging |
Het |
| Slc2a1 |
C |
T |
4: 118,989,809 (GRCm39) |
P149S |
probably damaging |
Het |
| Smad4 |
T |
G |
18: 73,808,942 (GRCm39) |
E108D |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,248,693 (GRCm39) |
I648K |
probably benign |
Het |
| Suclg1 |
A |
T |
6: 73,240,824 (GRCm39) |
I118F |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,185,990 (GRCm39) |
I1149T |
probably benign |
Het |
| Tfr2 |
T |
A |
5: 137,569,751 (GRCm39) |
Y82* |
probably null |
Het |
| Tfr2 |
G |
T |
5: 137,581,751 (GRCm39) |
V613L |
probably benign |
Het |
| Tg |
A |
T |
15: 66,568,010 (GRCm39) |
M1305L |
probably benign |
Het |
| Tmem176a |
A |
T |
6: 48,821,039 (GRCm39) |
M170L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,230 (GRCm39) |
N684S |
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,942,214 (GRCm39) |
I212T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,773,319 (GRCm39) |
V2361A |
possibly damaging |
Het |
| Uqcrc1 |
C |
T |
9: 108,765,827 (GRCm39) |
T14M |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,848 (GRCm39) |
I219V |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,577 (GRCm39) |
H800R |
probably benign |
Het |
| Vmn2r76 |
C |
T |
7: 85,879,374 (GRCm39) |
G309R |
probably benign |
Het |
| Xpc |
A |
T |
6: 91,476,513 (GRCm39) |
C529S |
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,688 (GRCm39) |
S254T |
possibly damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,823 (GRCm39) |
H301R |
possibly damaging |
Het |
| Zyg11a |
A |
T |
4: 108,049,271 (GRCm39) |
I490N |
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 |
|
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'- GTGAAGCTAGAGTATTACAACCTTACC -3'
(R):5'- ACCTCATGACCCAAGACTGG -3'
Sequencing Primer
(F):5'- GAGTATTACAACCTTACCATGTTGC -3'
(R):5'- GATGAAACTCTCCGAGAAACTGGTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation