Incidental Mutation 'R4980:Tasor'
| ID |
384768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
042575-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
27150791-27205512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27183382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 614
(L614I)
|
| 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: L614I
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: L614I
| 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: ENSMUST00000223688
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,885,292 (GRCm39) |
C189S |
probably damaging |
Het |
| Abcd3 |
A |
T |
3: 121,562,917 (GRCm39) |
|
probably null |
Het |
| Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
| Amhr2 |
T |
A |
15: 102,362,765 (GRCm39) |
S511T |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,694,553 (GRCm39) |
S77P |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 36,997,461 (GRCm39) |
S1173P |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,232,650 (GRCm39) |
F218L |
probably damaging |
Het |
| Cd5l |
A |
T |
3: 87,274,908 (GRCm39) |
H149L |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,186,506 (GRCm39) |
R92* |
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,564 (GRCm39) |
T256A |
unknown |
Het |
| Col22a1 |
C |
T |
15: 71,673,792 (GRCm39) |
A975T |
unknown |
Het |
| Cracd |
A |
T |
5: 77,005,421 (GRCm39) |
D594V |
unknown |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,373 (GRCm39) |
W153R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpyd |
T |
C |
3: 118,710,767 (GRCm39) |
S392P |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,295,369 (GRCm39) |
L957F |
probably damaging |
Het |
| Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
| Fbn2 |
T |
C |
18: 58,143,703 (GRCm39) |
E2784G |
probably benign |
Het |
| Fbxw10 |
T |
C |
11: 62,738,583 (GRCm39) |
I159T |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,802,810 (GRCm39) |
Y192C |
probably damaging |
Het |
| Gm7298 |
A |
G |
6: 121,736,198 (GRCm39) |
|
probably null |
Het |
| Igf2r |
C |
T |
17: 12,922,247 (GRCm39) |
|
probably null |
Het |
| Ints4 |
T |
C |
7: 97,151,057 (GRCm39) |
|
probably null |
Het |
| Kcnf1 |
A |
G |
12: 17,225,012 (GRCm39) |
F403S |
possibly damaging |
Het |
| Kif11 |
C |
T |
19: 37,375,819 (GRCm39) |
Q211* |
probably null |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Kifc3 |
T |
A |
8: 95,853,177 (GRCm39) |
T60S |
probably benign |
Het |
| Krt82 |
T |
C |
15: 101,453,534 (GRCm39) |
D284G |
possibly damaging |
Het |
| Lancl1 |
T |
C |
1: 67,043,968 (GRCm39) |
Y344C |
probably benign |
Het |
| Ltbp3 |
A |
T |
19: 5,803,955 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
G |
17: 12,490,958 (GRCm39) |
F158L |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,174,948 (GRCm39) |
Y469H |
probably damaging |
Het |
| Mcf2l |
T |
G |
8: 13,034,883 (GRCm39) |
F97C |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,438,904 (GRCm39) |
S121P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,821 (GRCm39) |
|
probably null |
Het |
| Myt1l |
A |
T |
12: 29,877,038 (GRCm39) |
T230S |
unknown |
Het |
| Naa15 |
T |
C |
3: 51,366,173 (GRCm39) |
|
probably null |
Het |
| Nans |
G |
A |
4: 46,492,764 (GRCm39) |
R64Q |
probably benign |
Het |
| Nbea |
C |
T |
3: 55,554,772 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
C |
3: 55,860,466 (GRCm39) |
E1870G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,974,591 (GRCm39) |
S688P |
probably damaging |
Het |
| Nedd4l |
G |
T |
18: 65,213,131 (GRCm39) |
E96* |
probably null |
Het |
| Or56a5 |
T |
A |
7: 104,793,431 (GRCm39) |
Y23F |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,384 (GRCm39) |
M82L |
probably benign |
Het |
| Pdxk |
A |
G |
10: 78,287,318 (GRCm39) |
L81P |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,077,495 (GRCm39) |
R269* |
probably null |
Het |
| Plec |
T |
C |
15: 76,090,065 (GRCm39) |
I92V |
probably damaging |
Het |
| Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
| Ppp2r2c |
A |
T |
5: 37,109,732 (GRCm39) |
M364L |
probably benign |
Het |
| Prag1 |
A |
C |
8: 36,606,740 (GRCm39) |
H827P |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,154,421 (GRCm38) |
N714S |
probably benign |
Het |
| Rbp2 |
G |
A |
9: 98,380,894 (GRCm39) |
V67I |
probably benign |
Het |
| Rictor |
T |
A |
15: 6,811,141 (GRCm39) |
Y835N |
probably damaging |
Het |
| Ripply2 |
A |
G |
9: 86,901,747 (GRCm39) |
Q91R |
probably damaging |
Het |
| Sap130 |
C |
A |
18: 31,782,699 (GRCm39) |
H203Q |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,270 (GRCm39) |
Y358C |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,254,872 (GRCm39) |
D294N |
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 39,956,801 (GRCm39) |
W113R |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,703,041 (GRCm39) |
Y138C |
probably damaging |
Het |
| Spag11a |
T |
C |
8: 19,207,962 (GRCm39) |
M1T |
probably null |
Het |
| Spata20 |
T |
C |
11: 94,375,435 (GRCm39) |
M120V |
probably damaging |
Het |
| Stk32a |
A |
C |
18: 43,447,113 (GRCm39) |
K357Q |
probably benign |
Het |
| Trmo |
A |
T |
4: 46,389,364 (GRCm39) |
C10* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,655,696 (GRCm39) |
V643G |
probably benign |
Het |
| Vangl2 |
A |
T |
1: 171,837,132 (GRCm39) |
L226I |
probably damaging |
Het |
| Vps35l |
T |
A |
7: 118,406,232 (GRCm39) |
D605E |
probably damaging |
Het |
| Wnt3a |
A |
T |
11: 59,140,626 (GRCm39) |
C297S |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,778,930 (GRCm39) |
K301E |
possibly damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,464,039 (GRCm39) |
T1399I |
possibly damaging |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGGAGAAGCCTGAGAACTTAGC -3'
(R):5'- CCAAAGAATGAGACGACTTCTG -3'
Sequencing Primer
(F):5'- ACAGTTTTCTCTGATTCAATG -3'
(R):5'- AGAATGAGACGACTTCTGCTGTTCAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation