Incidental Mutation 'R2679:Tead1'
| ID |
250761 |
| 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 |
040432-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
112278563-112505991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 112456053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 115
(S115A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059768]
[ENSMUST00000069256]
[ENSMUST00000084705]
[ENSMUST00000106638]
[ENSMUST00000164363]
[ENSMUST00000165036]
[ENSMUST00000168981]
[ENSMUST00000170352]
[ENSMUST00000171197]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059768
AA Change: S137A
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: S137A
| Domain | Start | End | E-Value | Type |
|---|
|
TEA
|
11 |
82 |
3.67e-52 |
SMART |
|
Pfam:TEA
|
95 |
428 |
3e-127 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069256
AA Change: S112A
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: S112A
| 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: ENSMUST00000084705
AA Change: S112A
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: S112A
| 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: S116A
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: S116A
| 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: ENSMUST00000164363
AA Change: S137A
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: S137A
| 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 |
possibly damaging
Transcript: ENSMUST00000165036
AA Change: S116A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: S116A
| 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: ENSMUST00000167060
AA Change: S115A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320
AA Change: S115A
| 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: ENSMUST00000168981
AA Change: S95A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: S95A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
386 |
7.1e-166 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170352
AA Change: S91A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: S91A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
382 |
4.5e-163 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171197
AA Change: S116A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: S116A
| 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 |
|
| Meta Mutation Damage Score |
0.5817 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
97% (67/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asic2 |
A |
G |
11: 81,042,780 (GRCm39) |
V171A |
probably benign |
Het |
| Atf7ip |
A |
T |
6: 136,543,649 (GRCm39) |
I641L |
possibly damaging |
Het |
| Atrn |
G |
A |
2: 130,803,595 (GRCm39) |
|
probably null |
Het |
| Bpifb4 |
T |
C |
2: 153,790,544 (GRCm39) |
I145T |
probably damaging |
Het |
| Bub3 |
A |
G |
7: 131,170,454 (GRCm39) |
|
probably null |
Het |
| Catsperb |
T |
A |
12: 101,429,404 (GRCm39) |
D192E |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 21,944,613 (GRCm39) |
H849Y |
possibly damaging |
Het |
| Cd101 |
G |
T |
3: 100,901,079 (GRCm39) |
Q998K |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,772,507 (GRCm39) |
M631L |
probably benign |
Het |
| Cit |
T |
C |
5: 116,107,174 (GRCm39) |
V1102A |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,507,332 (GRCm39) |
T249M |
unknown |
Het |
| Cpne6 |
A |
T |
14: 55,753,786 (GRCm39) |
I415F |
possibly damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,485,894 (GRCm39) |
I348V |
probably benign |
Het |
| Defb28 |
T |
C |
2: 152,360,202 (GRCm39) |
S6P |
possibly damaging |
Het |
| Dhrs7b |
A |
G |
11: 60,743,344 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,083,910 (GRCm39) |
|
probably null |
Het |
| Egfem1 |
A |
G |
3: 29,724,825 (GRCm39) |
T476A |
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,396,279 (GRCm39) |
D397G |
probably damaging |
Het |
| Eogt |
G |
A |
6: 97,097,761 (GRCm39) |
T279I |
probably benign |
Het |
| Fnip2 |
G |
A |
3: 79,388,233 (GRCm39) |
H833Y |
probably benign |
Het |
| Gabrr2 |
A |
T |
4: 33,071,435 (GRCm39) |
T92S |
probably damaging |
Het |
| Gm10110 |
T |
A |
14: 90,134,852 (GRCm39) |
|
noncoding transcript |
Het |
| Gria2 |
A |
G |
3: 80,648,260 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
T |
1: 150,528,326 (GRCm39) |
T3274N |
possibly damaging |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,176,279 (GRCm39) |
K569E |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,916,372 (GRCm39) |
Y46C |
probably damaging |
Het |
| Itga3 |
A |
T |
11: 94,959,136 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,880,745 (GRCm39) |
R552* |
probably null |
Het |
| Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,577,846 (GRCm39) |
D2374E |
unknown |
Het |
| Myl9 |
T |
A |
2: 156,622,426 (GRCm39) |
L70Q |
probably damaging |
Het |
| Nebl |
C |
T |
2: 17,429,402 (GRCm39) |
S243N |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,071,546 (GRCm39) |
Y314C |
probably damaging |
Het |
| Nr2f6 |
T |
A |
8: 71,827,380 (GRCm39) |
D307V |
probably damaging |
Het |
| Nrp2 |
T |
C |
1: 62,824,237 (GRCm39) |
S781P |
probably benign |
Het |
| Nub1 |
C |
T |
5: 24,897,923 (GRCm39) |
T103I |
possibly damaging |
Het |
| Or4b1d |
A |
T |
2: 89,968,889 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or51h5 |
T |
A |
7: 102,577,238 (GRCm39) |
Y134* |
probably null |
Het |
| Pex5l |
A |
T |
3: 33,136,201 (GRCm39) |
M6K |
probably benign |
Het |
| Pgm3 |
A |
C |
9: 86,451,374 (GRCm39) |
C93W |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,279,406 (GRCm39) |
S2971P |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,408,782 (GRCm39) |
L2423P |
probably damaging |
Het |
| Prkce |
A |
G |
17: 86,483,654 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
G |
4: 59,494,615 (GRCm39) |
|
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,050,113 (GRCm39) |
M339L |
probably benign |
Het |
| Pxdn |
T |
C |
12: 30,025,568 (GRCm39) |
|
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,363,451 (GRCm39) |
|
probably null |
Het |
| Ric1 |
A |
G |
19: 29,581,430 (GRCm39) |
S1275G |
probably benign |
Het |
| Rnf213 |
C |
A |
11: 119,350,764 (GRCm39) |
|
probably null |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,552 (GRCm39) |
E328V |
probably benign |
Het |
| Saraf |
C |
T |
8: 34,632,428 (GRCm39) |
T169I |
probably damaging |
Het |
| Sbk2 |
T |
A |
7: 4,960,119 (GRCm39) |
|
probably null |
Het |
| Setd1a |
T |
G |
7: 127,394,896 (GRCm39) |
|
probably benign |
Het |
| Sit1 |
A |
G |
4: 43,483,157 (GRCm39) |
Y73H |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,142,399 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
A |
T |
3: 94,173,217 (GRCm39) |
Y75F |
probably damaging |
Het |
| Tas2r125 |
A |
G |
6: 132,887,190 (GRCm39) |
T193A |
probably benign |
Het |
| Tbc1d9b |
T |
A |
11: 50,052,528 (GRCm39) |
|
probably null |
Het |
| Tcf7l1 |
G |
T |
6: 72,604,403 (GRCm39) |
H580Q |
probably benign |
Het |
| Top2b |
G |
A |
14: 16,413,947 (GRCm38) |
G29D |
probably damaging |
Het |
| Trpv4 |
A |
T |
5: 114,773,613 (GRCm39) |
C250S |
probably damaging |
Het |
| U2surp |
A |
C |
9: 95,358,285 (GRCm39) |
I655S |
possibly damaging |
Het |
| Ube2a |
G |
A |
X: 36,138,360 (GRCm39) |
|
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,821,882 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,983 (GRCm39) |
C301R |
probably damaging |
Het |
| Vmn2r90 |
A |
T |
17: 17,933,131 (GRCm39) |
R230S |
possibly damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,017,902 (GRCm39) |
E2560V |
probably damaging |
Het |
| Zfp273 |
C |
T |
13: 67,973,895 (GRCm39) |
A341V |
probably benign |
Het |
| Zfp512 |
C |
T |
5: 31,622,798 (GRCm39) |
A33V |
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 |
|
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 |
|
|
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'- GTGTGCTTTCATGGCCCC -3'
(R):5'- ATCCACCTAGCATCACCTATCAT -3'
Sequencing Primer
(F):5'- TTTCATGGCCCCCGTGTGG -3'
(R):5'- TGACGGGCAAATGCTCTACTACTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation