Incidental Mutation 'R5266:Tead1'
| ID |
401703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tead1
|
| Ensembl Gene |
ENSMUSG00000055320 |
| Gene Name |
TEA domain family member 1 |
| Synonyms |
mTEF-1, Tcf13, TEAD-1, TEF-1, Gtrgeo5, B230114H05Rik, 2610024B07Rik |
| MMRRC Submission |
042858-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5266 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
112278563-112505991 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 112358673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059768]
[ENSMUST00000069256]
[ENSMUST00000084705]
[ENSMUST00000106638]
[ENSMUST00000164363]
[ENSMUST00000165036]
[ENSMUST00000168981]
[ENSMUST00000171197]
[ENSMUST00000171373]
[ENSMUST00000170352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059768
|
| SMART Domains |
Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
Pfam:TEA
|
95 |
428 |
3e-127 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069256
|
| SMART Domains |
Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
low complexity region
|
128 |
144 |
N/A |
INTRINSIC |
|
PDB:3KYS|C
|
194 |
411 |
1e-153 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084705
|
| SMART Domains |
Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
low complexity region
|
128 |
144 |
N/A |
INTRINSIC |
|
PDB:3KYS|C
|
194 |
411 |
1e-153 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106638
|
| SMART Domains |
Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
PDB:3KYS|C
|
198 |
415 |
1e-153 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164363
|
| SMART Domains |
Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
internal_repeat_1
|
95 |
119 |
8.98e-7 |
PROSPERO |
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
PDB:3KYS|C
|
219 |
436 |
1e-153 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165036
|
| SMART Domains |
Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
PDB:3KYS|C
|
198 |
415 |
1e-153 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168981
|
| SMART Domains |
Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
386 |
7.1e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171197
|
| SMART Domains |
Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
Pfam:TEA
|
222 |
349 |
3e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167060
|
| SMART Domains |
Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
128 |
1.8e-28 |
PFAM |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170352
|
| SMART Domains |
Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
382 |
4.5e-163 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene die between embryonic day 11 and 12.5. Abnormalities were seen in heart development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,591,455 (GRCm39) |
N457S |
probably damaging |
Het |
| Asic4 |
G |
A |
1: 75,427,567 (GRCm39) |
G31E |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,866,223 (GRCm39) |
D281G |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,491,795 (GRCm39) |
D387G |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,204,043 (GRCm39) |
M660V |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,416,491 (GRCm39) |
T307M |
probably damaging |
Het |
| Cfap54 |
T |
G |
10: 92,651,764 (GRCm39) |
K3095N |
probably benign |
Het |
| Chl1 |
A |
G |
6: 103,677,504 (GRCm39) |
N706S |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,798,517 (GRCm39) |
V113A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,341,548 (GRCm39) |
S607P |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,731,207 (GRCm39) |
N198D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Elac1 |
A |
G |
18: 73,875,740 (GRCm39) |
V97A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,405,505 (GRCm39) |
T1251M |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,843,910 (GRCm39) |
N12K |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,061,416 (GRCm39) |
H316R |
possibly damaging |
Het |
| Ikzf3 |
A |
T |
11: 98,381,406 (GRCm39) |
M58K |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,835,555 (GRCm39) |
Y1746H |
probably damaging |
Het |
| Map3k11 |
T |
A |
19: 5,750,622 (GRCm39) |
N613K |
probably benign |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mrm1 |
A |
T |
11: 84,710,086 (GRCm39) |
L38Q |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,131,787 (GRCm39) |
F470L |
probably damaging |
Het |
| Ndst2 |
G |
A |
14: 20,774,555 (GRCm39) |
R834W |
probably damaging |
Het |
| Opa1 |
T |
A |
16: 29,436,948 (GRCm39) |
I637N |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,203,026 (GRCm39) |
Q300L |
probably benign |
Het |
| Or5d43 |
T |
C |
2: 88,104,565 (GRCm39) |
Y276C |
possibly damaging |
Het |
| Padi4 |
A |
G |
4: 140,473,442 (GRCm39) |
V665A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,325,252 (GRCm39) |
Y897H |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,663,190 (GRCm39) |
D345G |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,740,918 (GRCm39) |
M366V |
possibly damaging |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pon3 |
T |
C |
6: 5,240,860 (GRCm39) |
D34G |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,448,876 (GRCm39) |
S133T |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,123,309 (GRCm39) |
S2P |
possibly damaging |
Het |
| Rbm20 |
A |
G |
19: 53,801,818 (GRCm39) |
T109A |
probably damaging |
Het |
| Rexo5 |
C |
A |
7: 119,443,660 (GRCm39) |
H690Q |
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,408,437 (GRCm39) |
G670D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,865 (GRCm39) |
I157M |
probably damaging |
Het |
| Slbp |
A |
T |
5: 33,801,210 (GRCm39) |
I167N |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Stk36 |
T |
C |
1: 74,650,317 (GRCm39) |
V283A |
probably benign |
Het |
| Tecpr2 |
G |
C |
12: 110,881,836 (GRCm39) |
W135S |
probably damaging |
Het |
| Tha1 |
A |
C |
11: 117,760,502 (GRCm39) |
S241A |
probably damaging |
Het |
| Ttc39a |
A |
T |
4: 109,279,701 (GRCm39) |
I112F |
probably benign |
Het |
| Vmn1r128 |
A |
T |
7: 21,083,328 (GRCm39) |
T11S |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,779,303 (GRCm39) |
C404Y |
probably damaging |
Het |
| Wdr41 |
T |
C |
13: 95,131,759 (GRCm39) |
F57L |
probably damaging |
Het |
| Zfp975 |
T |
G |
7: 42,311,654 (GRCm39) |
T320P |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,289 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,962,865 (GRCm39) |
S176P |
probably benign |
Het |
|
| Other mutations in Tead1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00475:Tead1
|
APN |
7 |
112,438,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00678:Tead1
|
APN |
7 |
112,441,087 (GRCm39) |
splice site |
probably null |
|
|
IGL02640:Tead1
|
APN |
7 |
112,460,663 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0635:Tead1
|
UTSW |
7 |
112,490,913 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Tead1
|
UTSW |
7 |
112,475,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Tead1
|
UTSW |
7 |
112,475,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Tead1
|
UTSW |
7 |
112,490,952 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2679:Tead1
|
UTSW |
7 |
112,456,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2866:Tead1
|
UTSW |
7 |
112,358,694 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4060:Tead1
|
UTSW |
7 |
112,475,269 (GRCm39) |
splice site |
probably null |
|
|
R4810:Tead1
|
UTSW |
7 |
112,441,073 (GRCm39) |
splice site |
probably null |
|
|
R5253:Tead1
|
UTSW |
7 |
112,460,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Tead1
|
UTSW |
7 |
112,491,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6479:Tead1
|
UTSW |
7 |
112,460,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6562:Tead1
|
UTSW |
7 |
112,460,650 (GRCm39) |
missense |
probably benign |
|
|
R7178:Tead1
|
UTSW |
7 |
112,441,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7207:Tead1
|
UTSW |
7 |
112,441,287 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7996:Tead1
|
UTSW |
7 |
112,441,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8037:Tead1
|
UTSW |
7 |
112,358,727 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8057:Tead1
|
UTSW |
7 |
112,358,721 (GRCm39) |
missense |
probably benign |
|
|
R8415:Tead1
|
UTSW |
7 |
112,456,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8827:Tead1
|
UTSW |
7 |
112,475,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Tead1
|
UTSW |
7 |
112,497,818 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9209:Tead1
|
UTSW |
7 |
112,475,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Tead1
|
UTSW |
7 |
112,358,723 (GRCm39) |
missense |
probably benign |
|
|
R9276:Tead1
|
UTSW |
7 |
112,493,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Tead1
|
UTSW |
7 |
112,441,105 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
X0028:Tead1
|
UTSW |
7 |
112,458,323 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAATTATTGTCCACGTAACACTG -3'
(R):5'- GAGGCCCTGAAAGGAATGTTC -3'
Sequencing Primer
(F):5'- CACGTAACACTGTTGATGACCTGTG -3'
(R):5'- GAATGTTCCAGGCCACTTACC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation