Incidental Mutation 'R0512:Tasor'
ID |
47937 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tasor
|
Ensembl Gene |
ENSMUSG00000040651 |
Gene Name |
transcription activation suppressor |
Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
MMRRC Submission |
038706-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0512 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27168363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 302
(F302L)
|
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: F302L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022450 Gene: ENSMUSG00000040651 AA Change: F302L
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: ENSMUST00000223970
|
Meta Mutation Damage Score |
0.2540 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
100% (92/92) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519G04Rik |
T |
G |
5: 115,001,569 (GRCm39) |
M22R |
probably benign |
Het |
Abca8b |
C |
A |
11: 109,841,476 (GRCm39) |
M1039I |
probably benign |
Het |
Actn2 |
A |
T |
13: 12,292,301 (GRCm39) |
I653N |
probably damaging |
Het |
Actr8 |
G |
T |
14: 29,700,513 (GRCm39) |
V31L |
probably benign |
Het |
Adam30 |
T |
C |
3: 98,069,441 (GRCm39) |
C425R |
probably damaging |
Het |
Armc1 |
A |
G |
3: 19,203,659 (GRCm39) |
V89A |
possibly damaging |
Het |
Atr |
T |
C |
9: 95,817,579 (GRCm39) |
M2090T |
probably damaging |
Het |
Braf |
T |
A |
6: 39,641,923 (GRCm39) |
|
probably benign |
Het |
Cant1 |
A |
T |
11: 118,302,091 (GRCm39) |
N75K |
probably benign |
Het |
Chd7 |
C |
T |
4: 8,805,139 (GRCm39) |
|
probably benign |
Het |
Clec16a |
A |
G |
16: 10,432,444 (GRCm39) |
Y488C |
probably damaging |
Het |
Col6a3 |
A |
T |
1: 90,749,520 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
T |
A |
4: 120,911,504 (GRCm39) |
M615K |
probably benign |
Het |
Dedd |
G |
A |
1: 171,168,498 (GRCm39) |
R228H |
probably damaging |
Het |
Dhtkd1 |
C |
T |
2: 5,908,902 (GRCm39) |
D731N |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,127,812 (GRCm39) |
T651A |
probably damaging |
Het |
Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
Fam193a |
T |
C |
5: 34,583,735 (GRCm39) |
S19P |
probably damaging |
Het |
Fam43a |
T |
C |
16: 30,420,553 (GRCm39) |
V379A |
possibly damaging |
Het |
Fat1 |
C |
A |
8: 45,404,369 (GRCm39) |
Y373* |
probably null |
Het |
Fbxl15 |
A |
C |
19: 46,317,861 (GRCm39) |
D181A |
probably damaging |
Het |
Flt3 |
A |
T |
5: 147,278,080 (GRCm39) |
C831* |
probably null |
Het |
Foxj3 |
T |
A |
4: 119,443,033 (GRCm39) |
|
probably benign |
Het |
Glul |
T |
C |
1: 153,781,132 (GRCm39) |
|
probably benign |
Het |
Gm16380 |
A |
T |
9: 53,791,529 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
A |
T |
7: 83,405,158 (GRCm39) |
|
noncoding transcript |
Het |
Hipk1 |
A |
G |
3: 103,667,890 (GRCm39) |
F559S |
possibly damaging |
Het |
Hnf4g |
A |
T |
3: 3,716,682 (GRCm39) |
I284F |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Icosl |
A |
G |
10: 77,907,800 (GRCm39) |
N120S |
possibly damaging |
Het |
Ift172 |
A |
G |
5: 31,442,821 (GRCm39) |
V155A |
possibly damaging |
Het |
Kdm4c |
A |
G |
4: 74,252,031 (GRCm39) |
E426G |
probably benign |
Het |
Kif23 |
A |
G |
9: 61,826,257 (GRCm39) |
|
probably benign |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Lama1 |
G |
A |
17: 68,086,129 (GRCm39) |
C1456Y |
possibly damaging |
Het |
Lamc3 |
T |
A |
2: 31,827,980 (GRCm39) |
L1378Q |
probably damaging |
Het |
Larp1b |
T |
A |
3: 40,924,469 (GRCm39) |
L121M |
probably benign |
Het |
Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
Lepr |
A |
C |
4: 101,671,901 (GRCm39) |
D975A |
possibly damaging |
Het |
Magi1 |
A |
G |
6: 93,671,045 (GRCm39) |
V1068A |
probably damaging |
Het |
Malt1 |
T |
A |
18: 65,591,271 (GRCm39) |
N358K |
probably damaging |
Het |
Mfap4 |
T |
A |
11: 61,378,771 (GRCm39) |
W240R |
probably damaging |
Het |
Mis18a |
A |
G |
16: 90,523,244 (GRCm39) |
V84A |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,356,753 (GRCm39) |
E308G |
possibly damaging |
Het |
Mpp2 |
C |
A |
11: 101,953,116 (GRCm39) |
L258F |
possibly damaging |
Het |
Myh2 |
A |
G |
11: 67,079,504 (GRCm39) |
E987G |
probably damaging |
Het |
Myof |
A |
G |
19: 37,942,972 (GRCm39) |
V702A |
possibly damaging |
Het |
Nhs |
C |
A |
X: 160,620,355 (GRCm39) |
R1467I |
probably damaging |
Het |
Nrxn2 |
A |
G |
19: 6,567,228 (GRCm39) |
T1360A |
probably damaging |
Het |
Obox6 |
A |
G |
7: 15,567,874 (GRCm39) |
I191T |
probably benign |
Het |
Pacs2 |
G |
T |
12: 113,014,547 (GRCm39) |
R236L |
probably damaging |
Het |
Pcdhb2 |
T |
G |
18: 37,429,032 (GRCm39) |
V335G |
probably damaging |
Het |
Phyhipl |
T |
C |
10: 70,404,748 (GRCm39) |
I140M |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,380,738 (GRCm39) |
|
probably benign |
Het |
Ppp1r3b |
T |
G |
8: 35,851,571 (GRCm39) |
C137G |
probably damaging |
Het |
Prdm13 |
T |
A |
4: 21,678,490 (GRCm39) |
I667F |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,270,157 (GRCm39) |
M1281V |
probably benign |
Het |
Rab40b |
A |
G |
11: 121,250,412 (GRCm39) |
F81L |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,318,767 (GRCm39) |
S729P |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,105,497 (GRCm39) |
D228G |
probably damaging |
Het |
Rhbdf1 |
A |
T |
11: 32,160,875 (GRCm39) |
C19* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf150 |
G |
A |
8: 83,590,807 (GRCm39) |
V57M |
probably benign |
Het |
Rp9 |
A |
G |
9: 22,370,015 (GRCm39) |
F51L |
probably benign |
Het |
Sav1 |
A |
T |
12: 70,015,975 (GRCm39) |
Y274* |
probably null |
Het |
Scn4a |
A |
T |
11: 106,236,503 (GRCm39) |
D252E |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,379,724 (GRCm39) |
T187A |
probably damaging |
Het |
Sigirr |
T |
A |
7: 140,672,333 (GRCm39) |
D229V |
probably benign |
Het |
Slc39a13 |
T |
C |
2: 90,896,031 (GRCm39) |
S157G |
possibly damaging |
Het |
Slc6a20a |
A |
G |
9: 123,489,471 (GRCm39) |
S191P |
probably damaging |
Het |
Sorl1 |
C |
A |
9: 41,979,128 (GRCm39) |
A457S |
probably benign |
Het |
Spag5 |
A |
G |
11: 78,210,412 (GRCm39) |
|
probably benign |
Het |
Spon1 |
A |
G |
7: 113,436,066 (GRCm39) |
E119G |
possibly damaging |
Het |
Spred2 |
T |
A |
11: 19,958,485 (GRCm39) |
|
probably benign |
Het |
Sprr3 |
T |
G |
3: 92,364,784 (GRCm39) |
Q20P |
possibly damaging |
Het |
Strn3 |
A |
T |
12: 51,673,966 (GRCm39) |
F464L |
possibly damaging |
Het |
Sun1 |
A |
G |
5: 139,220,602 (GRCm39) |
|
probably benign |
Het |
Sypl2 |
A |
G |
3: 108,133,486 (GRCm39) |
W28R |
possibly damaging |
Het |
Syt5 |
A |
T |
7: 4,545,813 (GRCm39) |
V150D |
probably damaging |
Het |
Thsd7a |
A |
G |
6: 12,379,604 (GRCm39) |
I940T |
possibly damaging |
Het |
Tlcd3b |
C |
T |
7: 126,426,795 (GRCm39) |
R73C |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,785,951 (GRCm39) |
|
probably benign |
Het |
Trp53 |
T |
A |
11: 69,479,509 (GRCm39) |
L203Q |
probably damaging |
Het |
Tubgcp4 |
T |
C |
2: 121,005,900 (GRCm39) |
V96A |
probably benign |
Het |
Usp17la |
A |
G |
7: 104,510,246 (GRCm39) |
T284A |
possibly damaging |
Het |
Usp34 |
T |
C |
11: 23,401,997 (GRCm39) |
M2409T |
probably benign |
Het |
Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,449,350 (GRCm39) |
I296T |
probably benign |
Het |
Vmn2r67 |
A |
G |
7: 84,799,900 (GRCm39) |
V446A |
probably damaging |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,220,262 (GRCm39) |
C762R |
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 |
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 |
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'- GCTTCAGTTTTCACAGTTGAGTTCCAG -3'
(R):5'- GAGGACAATGGTCGCTTCTGAACTAC -3'
Sequencing Primer
(F):5'- cacacacaccagaagaggac -3'
(R):5'- GGTCGCTTCTGAACTACTTCTTTG -3'
|
Posted On |
2013-06-12 |