Incidental Mutation 'R7439:Tasor'
| ID |
576850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tasor
|
| Ensembl Gene |
ENSMUSG00000040651 |
| Gene Name |
transcription activation suppressor |
| Synonyms |
D14Abb1e, Fam208a, 4933409E02Rik, MommeD6 |
| MMRRC Submission |
045515-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7439 (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 27193602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 934
(V934E)
|
| 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: V934E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022450
Gene: ENSMUSG00000040651
AA Change: V934E
| 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: 99.8%
- 20x: 99.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
C |
4: 144,504,332 (GRCm39) |
D273G |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,333,703 (GRCm39) |
V542A |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
| Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
| Arpc5 |
T |
C |
1: 152,647,187 (GRCm39) |
S97P |
probably damaging |
Het |
| Arrdc5 |
A |
G |
17: 56,604,931 (GRCm39) |
F119L |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
| Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
| B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
| Bcl3 |
T |
C |
7: 19,556,536 (GRCm39) |
T23A |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,853 (GRCm39) |
K215E |
possibly damaging |
Het |
| Coa4 |
T |
A |
7: 100,188,478 (GRCm39) |
C64S |
probably damaging |
Het |
| Dcun1d4 |
T |
C |
5: 73,648,879 (GRCm39) |
|
probably null |
Het |
| Dnaaf5 |
T |
G |
5: 139,151,868 (GRCm39) |
C506W |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,900,931 (GRCm39) |
Y345H |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,621,624 (GRCm39) |
N1024S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,360,478 (GRCm39) |
|
probably null |
Het |
| Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
| Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
| Eif5b |
A |
C |
1: 38,090,718 (GRCm39) |
D1192A |
probably benign |
Het |
| Epn2 |
A |
T |
11: 61,437,674 (GRCm39) |
|
probably benign |
Het |
| Exoc1 |
T |
A |
5: 76,693,195 (GRCm39) |
N360K |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
| Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
| Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
| Hapln3 |
T |
A |
7: 78,767,017 (GRCm39) |
T341S |
probably benign |
Het |
| Lamb3 |
C |
A |
1: 193,014,474 (GRCm39) |
D544E |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,578,349 (GRCm39) |
S390T |
probably benign |
Het |
| Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,050,380 (GRCm39) |
M791V |
probably benign |
Het |
| Lyg2 |
A |
G |
1: 37,950,218 (GRCm39) |
Y37H |
possibly damaging |
Het |
| Lyz3 |
G |
A |
10: 117,074,602 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,402,300 (GRCm39) |
M172K |
probably damaging |
Het |
| Or2l13b |
T |
G |
16: 19,349,650 (GRCm39) |
S7R |
probably benign |
Het |
| Or4c126 |
A |
G |
2: 89,824,183 (GRCm39) |
I149V |
probably benign |
Het |
| Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
| Pcyt2 |
A |
T |
11: 120,502,209 (GRCm39) |
Y308N |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,689,104 (GRCm39) |
S141P |
probably damaging |
Het |
| Pigh |
G |
A |
12: 79,136,324 (GRCm39) |
P24S |
probably benign |
Het |
| Plekhg3 |
A |
G |
12: 76,623,259 (GRCm39) |
D834G |
probably damaging |
Het |
| Plekhg5 |
T |
A |
4: 152,198,392 (GRCm39) |
V860D |
probably benign |
Het |
| Pon1 |
A |
G |
6: 5,177,399 (GRCm39) |
I170T |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
| Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
| Rilpl2 |
T |
A |
5: 124,601,851 (GRCm39) |
H196L |
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
T |
C |
5: 113,422,187 (GRCm39) |
Y489C |
probably damaging |
Het |
| Sis |
G |
A |
3: 72,816,374 (GRCm39) |
H1531Y |
possibly damaging |
Het |
| Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
| Smc5 |
A |
G |
19: 23,220,064 (GRCm39) |
V467A |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Sucnr1 |
A |
G |
3: 59,994,117 (GRCm39) |
Q215R |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,266,394 (GRCm39) |
A594V |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
| Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
| Tada2a |
A |
T |
11: 84,017,812 (GRCm39) |
|
probably null |
Het |
| Taok3 |
C |
A |
5: 117,388,974 (GRCm39) |
Q460K |
probably damaging |
Het |
| Twf2 |
A |
G |
9: 106,091,597 (GRCm39) |
E268G |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
| Vmn2r35 |
T |
A |
7: 7,820,013 (GRCm39) |
N86Y |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,832,426 (GRCm39) |
S2833P |
|
Het |
| Xrn1 |
T |
C |
9: 95,933,682 (GRCm39) |
S1584P |
probably benign |
Het |
| Zfp354b |
T |
C |
11: 50,813,224 (GRCm39) |
Y567C |
probably damaging |
Het |
| Zfp52 |
A |
T |
17: 21,781,132 (GRCm39) |
R327* |
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 |
|
|
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 |
|
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'- CGTAGCCTATAAGTAGAGCAGATAG -3'
(R):5'- TCTAGGAAGCTCTGCTGCTG -3'
Sequencing Primer
(F):5'- GGACATAGGGTTTACACAGTTTATTG -3'
(R):5'- TGCTGGCACACACTGCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation