Incidental Mutation 'R5253:Tead1'
| ID |
399216 |
| 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 |
042824-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5253 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
112278563-112505991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112460752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 219
(D219Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059768]
[ENSMUST00000069256]
[ENSMUST00000084705]
[ENSMUST00000106638]
[ENSMUST00000164363]
[ENSMUST00000165036]
[ENSMUST00000171197]
[ENSMUST00000168981]
[ENSMUST00000170352]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059768
AA Change: D240Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: D240Y
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
Pfam:TEA
|
95 |
428 |
3e-127 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069256
AA Change: D215Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: D215Y
| 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 damaging
Transcript: ENSMUST00000084705
AA Change: D215Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: D215Y
| 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 damaging
Transcript: ENSMUST00000106638
AA Change: D219Y
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: D219Y
| 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: ENSMUST00000164363
AA Change: D240Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: D240Y
| 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 damaging
Transcript: ENSMUST00000165036
AA Change: D219Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: D219Y
| 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 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 damaging
Transcript: ENSMUST00000171197
AA Change: D219Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: D219Y
| 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 damaging
Transcript: ENSMUST00000168981
AA Change: D198Y
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: D198Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
386 |
7.1e-166 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170352
AA Change: D194Y
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: D194Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
382 |
4.5e-163 |
PFAM |
|
| Meta Mutation Damage Score |
0.9231 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
99% (72/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
C |
9: 39,962,746 (GRCm39) |
|
noncoding transcript |
Het |
| Actrt2 |
A |
C |
4: 154,752,026 (GRCm39) |
S37A |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,040,742 (GRCm39) |
I327T |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,364,061 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
A |
C |
7: 101,037,851 (GRCm39) |
I237L |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,902,971 (GRCm39) |
Y359N |
probably benign |
Het |
| Atad1 |
A |
G |
19: 32,651,702 (GRCm39) |
M343T |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,964 (GRCm39) |
I392N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,574,930 (GRCm39) |
S1914P |
probably benign |
Het |
| Cd300a |
G |
T |
11: 114,785,577 (GRCm39) |
R174L |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,135,831 (GRCm39) |
P356L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,436 (GRCm39) |
L283P |
probably damaging |
Het |
| Dusp1 |
T |
C |
17: 26,727,191 (GRCm39) |
N36S |
probably benign |
Het |
| Dync2i2 |
T |
A |
2: 29,922,375 (GRCm39) |
|
probably benign |
Het |
| Ercc3 |
C |
A |
18: 32,402,917 (GRCm39) |
P776Q |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,902,248 (GRCm39) |
R260G |
possibly damaging |
Het |
| Fa2h |
C |
G |
8: 112,075,869 (GRCm39) |
M251I |
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,610,499 (GRCm39) |
E968G |
possibly damaging |
Het |
| Flg2 |
A |
G |
3: 93,108,119 (GRCm39) |
D49G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,888,884 (GRCm39) |
E2810G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,366,805 (GRCm39) |
F343S |
possibly damaging |
Het |
| Gdf2 |
A |
G |
14: 33,667,264 (GRCm39) |
T329A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,731,558 (GRCm39) |
I255N |
unknown |
Het |
| Hk3 |
T |
G |
13: 55,158,824 (GRCm39) |
D485A |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,498,519 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,550,481 (GRCm39) |
R515L |
possibly damaging |
Het |
| Kiss1r |
A |
G |
10: 79,756,584 (GRCm39) |
Y142C |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,596,126 (GRCm39) |
I72L |
probably benign |
Het |
| Lep |
T |
A |
6: 29,070,862 (GRCm39) |
F62Y |
probably damaging |
Het |
| Lrtm1 |
A |
G |
14: 28,743,801 (GRCm39) |
T90A |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,865,872 (GRCm39) |
D1472V |
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,103,994 (GRCm39) |
P1988Q |
probably benign |
Het |
| Nlrp4a |
C |
T |
7: 26,149,917 (GRCm39) |
S508L |
probably benign |
Het |
| Obp2b |
T |
A |
2: 25,627,155 (GRCm39) |
D29E |
probably benign |
Het |
| Or10ag2 |
G |
A |
2: 87,249,012 (GRCm39) |
V207M |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,444 (GRCm39) |
L34P |
possibly damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,801 (GRCm39) |
C239* |
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,745 (GRCm39) |
I38M |
possibly damaging |
Het |
| Or6c3b |
A |
G |
10: 129,527,601 (GRCm39) |
I103T |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,483 (GRCm39) |
S1985P |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,886 (GRCm39) |
V165E |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,150 (GRCm39) |
V440A |
possibly damaging |
Het |
| Pelp1 |
C |
A |
11: 70,292,487 (GRCm39) |
G211C |
probably damaging |
Het |
| Phox2a |
A |
G |
7: 101,471,312 (GRCm39) |
H268R |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,841,983 (GRCm39) |
|
probably null |
Het |
| Pramel1 |
T |
A |
4: 143,125,156 (GRCm39) |
M360K |
probably benign |
Het |
| Rbm6 |
C |
T |
9: 107,729,856 (GRCm39) |
R132K |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,722,727 (GRCm39) |
T386A |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,421,124 (GRCm39) |
Y151C |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,800,110 (GRCm39) |
G2188D |
probably benign |
Het |
| Sugt1 |
G |
A |
14: 79,840,341 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
T |
C |
19: 40,595,685 (GRCm39) |
S367G |
probably benign |
Het |
| Tenm2 |
G |
T |
11: 35,938,028 (GRCm39) |
Y1548* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,682,233 (GRCm39) |
I2466F |
possibly damaging |
Het |
| Tent4b |
C |
A |
8: 88,926,651 (GRCm39) |
H20Q |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,971,358 (GRCm39) |
P294S |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,019,888 (GRCm39) |
S585P |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,566,806 (GRCm39) |
K491E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,621,895 (GRCm39) |
T15549I |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,183 (GRCm39) |
L21P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,083,820 (GRCm39) |
M65V |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,345,433 (GRCm39) |
|
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 |
|
|
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'- AATTCTGCCCCGTTGAGGTC -3'
(R):5'- CCTCTCCTACCTGAAGCTATGAG -3'
Sequencing Primer
(F):5'- TCTGCAGGGAGGTATATGCAC -3'
(R):5'- GCTATGAGAAGATACCTGCCTACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation