Incidental Mutation 'R6479:Tead1'
ID |
516979 |
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 |
044611-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6479 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
112278563-112505991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112460672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 192
(V192A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128439
(fasta)
|
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: V213A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000060671 Gene: ENSMUSG00000055320 AA Change: V213A
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: V188A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000130459 Gene: ENSMUSG00000055320 AA Change: V188A
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: V188A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000081755 Gene: ENSMUSG00000055320 AA Change: V188A
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
AA Change: V192A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102249 Gene: ENSMUSG00000055320 AA Change: V192A
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: V213A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127574 Gene: ENSMUSG00000055320 AA Change: V213A
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: V192A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131221 Gene: ENSMUSG00000055320 AA Change: V192A
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: ENSMUST00000168981
AA Change: V171A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133025 Gene: ENSMUSG00000055320 AA Change: V171A
Domain | Start | End | E-Value | Type |
Pfam:TEA
|
1 |
386 |
7.1e-166 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170352
AA Change: V167A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129798 Gene: ENSMUSG00000055320 AA Change: V167A
Domain | Start | End | E-Value | Type |
Pfam:TEA
|
1 |
382 |
4.5e-163 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171197
AA Change: V192A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128439 Gene: ENSMUSG00000055320 AA Change: V192A
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: 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: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.0%
|
Validation Efficiency |
95% (55/58) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
A |
C |
8: 25,119,681 (GRCm39) |
S533A |
probably benign |
Het |
Akap6 |
T |
G |
12: 53,187,952 (GRCm39) |
S1789A |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,236,011 (GRCm39) |
S519P |
probably damaging |
Het |
Anapc2 |
A |
G |
2: 25,175,407 (GRCm39) |
K816E |
probably benign |
Het |
Atp6v1a |
T |
C |
16: 43,919,121 (GRCm39) |
D488G |
probably benign |
Het |
Banp |
A |
G |
8: 122,718,176 (GRCm39) |
|
probably null |
Het |
Camsap1 |
A |
G |
2: 25,825,874 (GRCm39) |
C1367R |
possibly damaging |
Het |
Casz1 |
C |
A |
4: 149,021,535 (GRCm39) |
H539Q |
probably damaging |
Het |
Ccl5 |
A |
G |
11: 83,421,212 (GRCm39) |
Y26H |
probably benign |
Het |
Cops3 |
A |
T |
11: 59,723,898 (GRCm39) |
S86R |
probably benign |
Het |
Cts7 |
A |
G |
13: 61,503,455 (GRCm39) |
S170P |
probably benign |
Het |
Cxcl15 |
A |
T |
5: 90,943,104 (GRCm39) |
E35D |
possibly damaging |
Het |
Dennd1b |
C |
T |
1: 138,969,698 (GRCm39) |
|
probably benign |
Het |
Dicer1 |
T |
C |
12: 104,662,982 (GRCm39) |
D1533G |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,878,954 (GRCm39) |
E1531G |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,811,612 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
Gm10309 |
A |
T |
17: 86,812,007 (GRCm39) |
M1K |
probably null |
Het |
Gm4884 |
A |
T |
7: 40,690,211 (GRCm39) |
N36Y |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,553,053 (GRCm39) |
R2546* |
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,315,480 (GRCm39) |
D3743G |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,354,157 (GRCm39) |
E114V |
possibly damaging |
Het |
Irak2 |
A |
T |
6: 113,663,902 (GRCm39) |
N423Y |
probably damaging |
Het |
Jarid2 |
G |
A |
13: 45,001,765 (GRCm39) |
G26D |
probably benign |
Het |
Kif13b |
A |
G |
14: 64,988,974 (GRCm39) |
K785R |
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,777,413 (GRCm39) |
I20F |
probably benign |
Het |
Limk1 |
G |
A |
5: 134,690,373 (GRCm39) |
|
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,317,429 (GRCm39) |
T851I |
probably damaging |
Het |
Med13 |
G |
A |
11: 86,248,353 (GRCm39) |
|
probably benign |
Het |
Megf10 |
T |
C |
18: 57,379,642 (GRCm39) |
F273L |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,700,700 (GRCm39) |
D73E |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,560,385 (GRCm39) |
F640L |
possibly damaging |
Het |
Mtor |
T |
C |
4: 148,635,457 (GRCm39) |
S2448P |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,467,877 (GRCm39) |
V377A |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,750,086 (GRCm39) |
V183A |
probably damaging |
Het |
Nedd4l |
G |
A |
18: 65,342,752 (GRCm39) |
R755H |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,110,207 (GRCm39) |
T275A |
probably benign |
Het |
Or52n4 |
A |
G |
7: 104,294,333 (GRCm39) |
I80T |
probably benign |
Het |
Osgepl1 |
T |
C |
1: 53,360,702 (GRCm39) |
V381A |
probably benign |
Het |
Pcdha1 |
C |
T |
18: 37,064,509 (GRCm39) |
T391I |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,327 (GRCm39) |
N328S |
probably damaging |
Het |
Pepd |
A |
G |
7: 34,740,147 (GRCm39) |
E340G |
probably benign |
Het |
Plch1 |
T |
C |
3: 63,651,931 (GRCm39) |
T387A |
probably benign |
Het |
Plxnb1 |
C |
A |
9: 108,940,733 (GRCm39) |
T1536K |
possibly damaging |
Het |
Rbp7 |
T |
C |
4: 149,534,347 (GRCm39) |
T130A |
probably benign |
Het |
Rhot2 |
A |
T |
17: 26,060,054 (GRCm39) |
V309E |
probably benign |
Het |
Slc37a1 |
A |
G |
17: 31,557,964 (GRCm39) |
I421M |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,389,331 (GRCm39) |
L585H |
probably damaging |
Het |
Spint4 |
C |
A |
2: 164,542,764 (GRCm39) |
A119D |
probably benign |
Het |
Strip2 |
G |
T |
6: 29,944,496 (GRCm39) |
|
probably null |
Het |
Stxbp4 |
T |
C |
11: 90,510,013 (GRCm39) |
Y59C |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,181,679 (GRCm39) |
Q4219* |
probably null |
Het |
Syne1 |
A |
T |
10: 5,406,826 (GRCm39) |
I37N |
probably damaging |
Het |
Syne4 |
G |
T |
7: 30,016,340 (GRCm39) |
G179* |
probably null |
Het |
Trim37 |
G |
T |
11: 87,107,313 (GRCm39) |
E317* |
probably null |
Het |
Wdfy3 |
A |
C |
5: 102,061,045 (GRCm39) |
Y1390D |
probably damaging |
Het |
Wdr81 |
A |
G |
11: 75,342,931 (GRCm39) |
F779L |
possibly damaging |
Het |
Zfp1002 |
C |
T |
2: 150,096,511 (GRCm39) |
G306D |
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 |
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'- CAGTCTGCTTAGCTGTCACTG -3'
(R):5'- TACACAGGGCATTTCACACAGG -3'
Sequencing Primer
(F):5'- TTAGCTGTCACTGTCCGCAGAAG -3'
(R):5'- GGCATTTCACACAGGTGTAAG -3'
|
Posted On |
2018-05-21 |