Incidental Mutation 'R2866:Tead1'
| ID |
253256 |
| 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 |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
112278563-112505991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112358694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 2
(E2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059768]
[ENSMUST00000069256]
[ENSMUST00000084705]
[ENSMUST00000106638]
[ENSMUST00000164363]
[ENSMUST00000165036]
[ENSMUST00000171197]
[ENSMUST00000168981]
[ENSMUST00000170352]
[ENSMUST00000171373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059768
AA Change: E2G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: E2G
| 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
AA Change: E2G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: E2G
| 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
AA Change: E2G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: E2G
| 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 |
possibly damaging
Transcript: ENSMUST00000106638
AA Change: E2G
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: E2G
| 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
AA Change: E2G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: E2G
| 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
AA Change: E2G
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: E2G
| 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 |
probably damaging
Transcript: ENSMUST00000171197
AA Change: E2G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: E2G
| 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 |
possibly damaging
Transcript: ENSMUST00000168981
AA Change: E2G
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
386 |
7.1e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170352
AA Change: E2G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: E2G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
382 |
4.5e-163 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171373
AA Change: E2G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168328
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172065
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
| Best1 |
T |
C |
19: 9,963,585 (GRCm39) |
E532G |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
probably damaging |
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 |
|
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 |
|
R5266:Tead1
|
UTSW |
7 |
112,358,673 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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'- TCCAGGAATTATTGTCCACGTAAC -3'
(R):5'- AGGCCCTGAAAGGAATGTTC -3'
Sequencing Primer
(F):5'- CACGTAACACTGTTGATGACCTGTG -3'
(R):5'- GAATGTTCCAGGCCACTTACC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation