Incidental Mutation 'R6181:Tasor'
| ID |
488107 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
044323-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6181 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27194235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1145
(M1145K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022450
AA Change: M1145K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: M1145K
| 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 |
probably benign
Transcript: ENSMUST00000225139
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b7 |
A |
G |
6: 34,392,313 (GRCm39) |
H42R |
possibly damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,525,838 (GRCm39) |
H369L |
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,323,081 (GRCm39) |
S474P |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,105 (GRCm39) |
V639A |
probably benign |
Het |
| Arhgef2 |
T |
A |
3: 88,542,927 (GRCm39) |
V358E |
probably damaging |
Het |
| Brpf3 |
A |
G |
17: 29,029,555 (GRCm39) |
Y505C |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,619,331 (GRCm39) |
T120A |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,645,399 (GRCm39) |
E384G |
probably damaging |
Het |
| Cd200l1 |
A |
G |
16: 45,238,260 (GRCm39) |
S185P |
probably benign |
Het |
| Clasp1 |
T |
G |
1: 118,347,547 (GRCm39) |
S32A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,796,469 (GRCm39) |
L246* |
probably null |
Het |
| Clcn7 |
A |
G |
17: 25,370,702 (GRCm39) |
I353V |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,751,608 (GRCm39) |
D322E |
probably benign |
Het |
| Cmtm4 |
A |
C |
8: 105,082,997 (GRCm39) |
|
probably null |
Het |
| Cntnap2 |
C |
T |
6: 46,736,742 (GRCm39) |
P723S |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,744,096 (GRCm39) |
T84S |
possibly damaging |
Het |
| Corin |
A |
G |
5: 72,529,439 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
A |
2: 13,354,687 (GRCm39) |
T1903I |
probably benign |
Het |
| Cyp27b1 |
A |
C |
10: 126,886,279 (GRCm39) |
D320A |
probably damaging |
Het |
| Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
| Dennd2a |
T |
C |
6: 39,462,554 (GRCm39) |
K652R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,760,251 (GRCm39) |
M1638K |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,722,159 (GRCm39) |
S1924P |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,373,096 (GRCm39) |
S8G |
probably damaging |
Het |
| Fam193a |
T |
A |
5: 34,600,884 (GRCm39) |
|
probably null |
Het |
| Fbxw11 |
T |
A |
11: 32,692,575 (GRCm39) |
N515K |
probably benign |
Het |
| Gm6408 |
T |
C |
5: 146,420,582 (GRCm39) |
V154A |
possibly damaging |
Het |
| Guf1 |
A |
G |
5: 69,719,059 (GRCm39) |
Y235C |
probably damaging |
Het |
| Hnrnpul2 |
C |
T |
19: 8,800,596 (GRCm39) |
S224L |
possibly damaging |
Het |
| Igkv8-19 |
T |
A |
6: 70,317,968 (GRCm39) |
D86V |
probably damaging |
Het |
| Iqcf1 |
A |
T |
9: 106,379,174 (GRCm39) |
D61V |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,678,427 (GRCm39) |
D476G |
probably damaging |
Het |
| Luzp1 |
A |
G |
4: 136,270,578 (GRCm39) |
T934A |
probably benign |
Het |
| Mboat7 |
A |
T |
7: 3,686,884 (GRCm39) |
Y319N |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,715,953 (GRCm39) |
E2045G |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,260,398 (GRCm39) |
R12G |
probably benign |
Het |
| Micall2 |
T |
A |
5: 139,702,506 (GRCm39) |
T246S |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,132,830 (GRCm39) |
V299A |
probably damaging |
Het |
| Or2y11 |
T |
A |
11: 49,443,120 (GRCm39) |
V182D |
probably damaging |
Het |
| P2ry13 |
A |
G |
3: 59,117,328 (GRCm39) |
V150A |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
| Pde8b |
C |
T |
13: 95,223,316 (GRCm39) |
E313K |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,551,936 (GRCm39) |
G499R |
probably benign |
Het |
| Ppp1r15b |
T |
A |
1: 133,060,261 (GRCm39) |
C259* |
probably null |
Het |
| Pramel21 |
T |
A |
4: 143,342,828 (GRCm39) |
|
probably null |
Het |
| Ptgs1 |
A |
G |
2: 36,141,131 (GRCm39) |
E526G |
probably damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,666,258 (GRCm39) |
L271P |
probably damaging |
Het |
| Rbm47 |
T |
C |
5: 66,183,833 (GRCm39) |
T257A |
possibly damaging |
Het |
| Rfc3 |
C |
T |
5: 151,570,985 (GRCm39) |
D104N |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,808 (GRCm39) |
I330T |
probably benign |
Het |
| Rnf207 |
T |
C |
4: 152,393,305 (GRCm39) |
T570A |
probably benign |
Het |
| Rusf1 |
A |
G |
7: 127,896,632 (GRCm39) |
|
probably null |
Het |
| Sbpl |
T |
C |
17: 24,172,466 (GRCm39) |
H151R |
probably damaging |
Het |
| Sstr3 |
T |
C |
15: 78,423,661 (GRCm39) |
D362G |
probably benign |
Het |
| St7 |
T |
C |
6: 17,694,363 (GRCm39) |
|
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,939,788 (GRCm39) |
V420A |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,193,520 (GRCm39) |
E305* |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,505,970 (GRCm39) |
V68E |
probably damaging |
Het |
| Tmod4 |
A |
T |
3: 95,035,118 (GRCm39) |
I208F |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,181,884 (GRCm39) |
L4F |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,575,982 (GRCm39) |
H858R |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,615,200 (GRCm39) |
W324R |
probably damaging |
Het |
| V1rd19 |
T |
A |
7: 23,702,640 (GRCm39) |
F35L |
possibly damaging |
Het |
| Vmn1r170 |
C |
A |
7: 23,305,692 (GRCm39) |
N31K |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,452 (GRCm39) |
Y256F |
probably damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,294,019 (GRCm39) |
I702T |
possibly damaging |
Het |
| Vmn2r96 |
G |
A |
17: 18,804,126 (GRCm39) |
A459T |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,543,109 (GRCm39) |
A132S |
probably damaging |
Het |
| Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,028,700 (GRCm39) |
S1238P |
possibly damaging |
Het |
| Zfp804a |
G |
T |
2: 82,087,486 (GRCm39) |
M438I |
probably damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,381,590 (GRCm39) |
G246S |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,492,431 (GRCm39) |
V115A |
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 |
|
|
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'- GCGCTAATCATTCCCATGCTG -3'
(R):5'- TTGCAAAGCACACTCTCCTC -3'
Sequencing Primer
(F):5'- GAAGGCGTGTTGTGTCAA -3'
(R):5'- ACTTCACAGTATTTTTCTGGACG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation