Incidental Mutation 'R8037:Tead1'
| ID |
618292 |
| 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 |
067474-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
112278563-112505991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112358727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 13
(D13G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060671
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059768]
[ENSMUST00000069256]
[ENSMUST00000084705]
[ENSMUST00000106638]
[ENSMUST00000164363]
[ENSMUST00000165036]
[ENSMUST00000168981]
[ENSMUST00000170352]
[ENSMUST00000171197]
[ENSMUST00000171373]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059768
AA Change: D13G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: D13G
| 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: D13G
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: D13G
| 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: D13G
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: D13G
| 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: D13G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: D13G
| 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 |
possibly damaging
Transcript: ENSMUST00000164363
AA Change: D13G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: D13G
| 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: D13G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: D13G
| 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 |
possibly damaging
Transcript: ENSMUST00000168981
AA Change: D13G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: D13G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
386 |
7.1e-166 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170352
AA Change: D13G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: D13G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
382 |
4.5e-163 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171197
AA Change: D13G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: D13G
| 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
AA Change: D13G
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,243,904 (GRCm39) |
W1922C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,404,510 (GRCm39) |
C309S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,771,676 (GRCm39) |
V1343E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,992,161 (GRCm39) |
Y72N |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,946,776 (GRCm39) |
T2339A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,502,882 (GRCm39) |
V274A |
probably benign |
Het |
| Ccr8 |
T |
C |
9: 119,923,436 (GRCm39) |
F184L |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,055,700 (GRCm39) |
D58G |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dhdds |
G |
A |
4: 133,724,158 (GRCm39) |
T52I |
probably benign |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Efemp2 |
C |
T |
19: 5,530,141 (GRCm39) |
Q290* |
probably null |
Het |
| Eipr1 |
A |
G |
12: 28,914,676 (GRCm39) |
S277G |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,511 (GRCm39) |
I310V |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,322 (GRCm39) |
N4018K |
possibly damaging |
Het |
| Gm12887 |
T |
A |
4: 121,472,887 (GRCm39) |
D85V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,394,119 (GRCm39) |
V473A |
probably benign |
Het |
| Hnrnpu |
A |
T |
1: 178,159,917 (GRCm39) |
F388Y |
unknown |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ier5 |
A |
T |
1: 154,975,175 (GRCm39) |
M1K |
probably null |
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,023,794 (GRCm39) |
D577G |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,935,089 (GRCm39) |
M1010K |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,796,883 (GRCm39) |
N873T |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,138,400 (GRCm39) |
R15G |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,055 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,071 (GRCm39) |
S376P |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,429,650 (GRCm39) |
N737S |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,336,509 (GRCm39) |
L209P |
possibly damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rin1 |
T |
A |
19: 5,101,852 (GRCm39) |
L179Q |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,659,483 (GRCm39) |
M57K |
probably benign |
Het |
| Senp2 |
C |
T |
16: 21,832,888 (GRCm39) |
Q59* |
probably null |
Het |
| St8sia5 |
G |
A |
18: 77,336,238 (GRCm39) |
V224I |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tnni2 |
A |
G |
7: 141,997,691 (GRCm39) |
R109G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,016,178 (GRCm39) |
K320R |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,047,988 (GRCm39) |
V21D |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
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 |
|
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 |
|
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 |
|
|
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'- AAGCAGTATATTGATGGCACCCC -3'
(R):5'- TACAAAGAGCAACCAGGCTG -3'
Sequencing Primer
(F):5'- AGTATATTGATGGCACCCCTAGCC -3'
(R):5'- AGAGCAACCAGGCTGGCTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation