Incidental Mutation 'R8913:Tasor'
| ID |
678783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
068702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27188145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 864
(N864Y)
|
| 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: N864Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: N864Y
| 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: 98.5%
|
| Validation Efficiency |
96% (65/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,303,972 (GRCm39) |
Y2102H |
probably damaging |
Het |
| Adam30 |
A |
T |
3: 98,068,580 (GRCm39) |
I10F |
possibly damaging |
Het |
| Afap1l1 |
C |
T |
18: 61,889,910 (GRCm39) |
|
probably null |
Het |
| Asz1 |
T |
C |
6: 18,054,570 (GRCm39) |
D411G |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,852,830 (GRCm39) |
L144P |
|
Het |
| Atxn7l3 |
G |
T |
11: 102,185,787 (GRCm39) |
N13K |
probably damaging |
Het |
| Cap1 |
C |
A |
4: 122,761,445 (GRCm39) |
|
probably null |
Het |
| Cd244a |
T |
A |
1: 171,401,774 (GRCm39) |
Y167N |
probably damaging |
Het |
| Cd244a |
A |
T |
1: 171,401,775 (GRCm39) |
Y167F |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,088,241 (GRCm39) |
F92S |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,331,221 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
C |
A |
4: 128,417,351 (GRCm39) |
P2770T |
|
Het |
| Cyp4f40 |
G |
T |
17: 32,886,810 (GRCm39) |
D122Y |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,553,063 (GRCm39) |
E2583G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,624,602 (GRCm39) |
V3714A |
probably benign |
Het |
| Fam114a1 |
G |
T |
5: 65,185,821 (GRCm39) |
A381S |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,869 (GRCm39) |
Y317C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,891,579 (GRCm39) |
K2312R |
possibly damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klhl23 |
G |
A |
2: 69,664,234 (GRCm39) |
E528K |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,982,039 (GRCm39) |
V1756A |
probably benign |
Het |
| Lcn2 |
C |
A |
2: 32,277,158 (GRCm39) |
V53F |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,785 (GRCm39) |
S1633P |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,363 (GRCm39) |
V996A |
probably benign |
Het |
| Mettl9 |
T |
G |
7: 120,675,539 (GRCm39) |
F313C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,924 (GRCm39) |
H373Q |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,947,010 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
T |
C |
10: 127,541,710 (GRCm39) |
V83A |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,665 (GRCm39) |
T45A |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,401,564 (GRCm39) |
V40A |
possibly damaging |
Het |
| Nherf2 |
G |
A |
17: 24,863,839 (GRCm39) |
S12L |
probably benign |
Het |
| Nmt1 |
G |
T |
11: 102,948,271 (GRCm39) |
R265L |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,440 (GRCm39) |
A1008D |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,467,892 (GRCm39) |
A1334T |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,181,680 (GRCm39) |
M1114V |
|
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,809 (GRCm39) |
V184E |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,274 (GRCm39) |
F73S |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,739,991 (GRCm39) |
F249L |
probably benign |
Het |
| Pdlim5 |
A |
T |
3: 141,950,666 (GRCm39) |
F582L |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,544,365 (GRCm39) |
F671L |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,947 (GRCm39) |
V725E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,362,338 (GRCm39) |
T396I |
probably damaging |
Het |
| Ptn |
C |
T |
6: 36,718,276 (GRCm39) |
D130N |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,159,034 (GRCm39) |
D473G |
probably benign |
Het |
| Robo1 |
A |
C |
16: 72,701,622 (GRCm39) |
I163L |
probably damaging |
Het |
| Ror1 |
A |
C |
4: 100,265,027 (GRCm39) |
D167A |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,520,595 (GRCm39) |
D709G |
|
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
T |
C |
17: 44,919,169 (GRCm39) |
T472A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,623,094 (GRCm39) |
T582A |
probably damaging |
Het |
| Serpina3m |
C |
T |
12: 104,355,477 (GRCm39) |
A48V |
probably benign |
Het |
| Smim8 |
T |
A |
4: 34,769,056 (GRCm39) |
D76V |
possibly damaging |
Het |
| Sqor |
A |
G |
2: 122,641,806 (GRCm39) |
K260R |
probably benign |
Het |
| Syde2 |
A |
T |
3: 145,708,148 (GRCm39) |
I963F |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,351,952 (GRCm39) |
|
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,527,621 (GRCm39) |
Y68* |
probably null |
Het |
| Tmtc2 |
T |
A |
10: 105,158,887 (GRCm39) |
I569F |
probably damaging |
Het |
| Upf3a |
G |
A |
8: 13,845,728 (GRCm39) |
V276M |
possibly damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,375 (GRCm39) |
V14M |
possibly damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,968 (GRCm39) |
S768P |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,778 (GRCm39) |
T194S |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,309,543 (GRCm39) |
M852T |
probably benign |
Het |
| Zfp207 |
T |
A |
11: 80,276,744 (GRCm39) |
D19E |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,722,699 (GRCm39) |
M1567I |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,653 (GRCm39) |
E820V |
probably damaging |
Het |
| Zfp512b |
A |
T |
2: 181,227,282 (GRCm39) |
C46S |
|
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 |
|
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 |
|
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'- TGTGAAGCTAGAGTATTACAACCTT -3'
(R):5'- CTCATGACCCAAGACTGGAATCTA -3'
Sequencing Primer
(F):5'- GAGTATTACAACCTTACCATGTTGC -3'
(R):5'- TCTCCGAGAAACTGGTCCTTAAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation