Incidental Mutation 'IGL01365:Tead2'
ID | 75905 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tead2
|
Ensembl Gene |
ENSMUSG00000030796 |
Gene Name | TEA domain family member 2 |
Synonyms | TEAD-2, TEF-4, Etdf |
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL01365
|
Quality Score | |
Status |
|
Chromosome | 7 |
Chromosomal Location | 45215753-45233644 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to A
at 45217251 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 11
(D11E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103431
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033060]
[ENSMUST00000097216]
[ENSMUST00000107801]
[ENSMUST00000209343]
[ENSMUST00000209437]
[ENSMUST00000209678]
[ENSMUST00000210447]
[ENSMUST00000211744]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033060
AA Change: D11E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000033060 Gene: ENSMUSG00000030796 AA Change: D11E
Domain | Start | End | E-Value | Type |
TEA
|
36 |
107 |
4.84e-52 |
SMART |
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
PDB:3L15|B
|
218 |
445 |
1e-143 |
PDB |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000097216
AA Change: D11E
|
SMART Domains |
Protein: ENSMUSP00000103430 Gene: ENSMUSG00000030796 AA Change: D11E
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
38 |
N/A |
INTRINSIC |
Pfam:TEA
|
40 |
402 |
1.8e-137 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107801
AA Change: D11E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103431 Gene: ENSMUSG00000030796 AA Change: D11E
Domain | Start | End | E-Value | Type |
TEA
|
36 |
107 |
4.84e-52 |
SMART |
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
PDB:3L15|B
|
218 |
445 |
1e-143 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209343
AA Change: D11E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209437
AA Change: D11E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209678
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210447
AA Change: D11E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211744
AA Change: D11E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210570
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211778
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a functionally null allele of this gene exhibit no gross abnormalities and are fertile. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
G |
T |
8: 83,723,889 |
|
probably null |
Het |
Agtr1a |
A |
G |
13: 30,381,828 |
Y292C |
probably damaging |
Het |
Btbd11 |
T |
C |
10: 85,633,816 |
V867A |
possibly damaging |
Het |
CK137956 |
A |
G |
4: 127,951,342 |
S203P |
probably benign |
Het |
Cnbd1 |
C |
T |
4: 18,860,576 |
G390D |
probably damaging |
Het |
Cttnbp2nl |
T |
C |
3: 105,005,030 |
T513A |
probably damaging |
Het |
Dppa2 |
A |
G |
16: 48,313,913 |
K67R |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,593,523 |
K486E |
possibly damaging |
Het |
Lmnb2 |
G |
T |
10: 80,904,984 |
Q151K |
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,790,907 |
L223Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 66,287,701 |
I901T |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,391,169 |
Y3624C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,216,089 |
Y428* |
probably null |
Het |
Myb |
A |
G |
10: 21,152,502 |
I154T |
probably benign |
Het |
Olfr294 |
T |
C |
7: 86,615,997 |
Y216C |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,947,954 |
T168I |
possibly damaging |
Het |
Pramel7 |
T |
C |
2: 87,491,413 |
|
probably benign |
Het |
Ptar1 |
T |
A |
19: 23,705,801 |
W140R |
probably damaging |
Het |
Sec14l2 |
G |
T |
11: 4,098,317 |
D400E |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,157,906 |
Y175N |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,892,097 |
|
probably benign |
Het |
Slc8a3 |
A |
G |
12: 81,315,376 |
V223A |
probably damaging |
Het |
Srsf1 |
G |
T |
11: 88,049,181 |
R173L |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,100,878 |
|
probably null |
Het |
Trappc12 |
T |
A |
12: 28,747,402 |
I44F |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 153,000,134 |
Y303H |
possibly damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,265,191 |
N6K |
possibly damaging |
Het |
|
Other mutations in Tead2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01887:Tead2
|
APN |
7 |
45232310 |
missense |
probably damaging |
1.00 |
IGL02378:Tead2
|
APN |
7 |
45218147 |
critical splice donor site |
probably null |
|
IGL02441:Tead2
|
APN |
7 |
45217421 |
missense |
probably damaging |
1.00 |
IGL02716:Tead2
|
APN |
7 |
45232296 |
nonsense |
probably null |
|
IGL02939:Tead2
|
APN |
7 |
45220434 |
splice site |
probably benign |
|
IGL03302:Tead2
|
APN |
7 |
45232899 |
missense |
possibly damaging |
0.86 |
R0325:Tead2
|
UTSW |
7 |
45225755 |
missense |
probably damaging |
1.00 |
R0611:Tead2
|
UTSW |
7 |
45217250 |
missense |
probably damaging |
0.99 |
R2571:Tead2
|
UTSW |
7 |
45225770 |
missense |
probably damaging |
1.00 |
R3401:Tead2
|
UTSW |
7 |
45223673 |
unclassified |
probably benign |
|
R3847:Tead2
|
UTSW |
7 |
45232328 |
splice site |
probably null |
|
R3849:Tead2
|
UTSW |
7 |
45232328 |
splice site |
probably null |
|
R3850:Tead2
|
UTSW |
7 |
45232328 |
splice site |
probably null |
|
R5729:Tead2
|
UTSW |
7 |
45220742 |
unclassified |
probably benign |
|
R5932:Tead2
|
UTSW |
7 |
45232899 |
missense |
probably benign |
0.00 |
R5956:Tead2
|
UTSW |
7 |
45220714 |
unclassified |
probably benign |
|
R6208:Tead2
|
UTSW |
7 |
45218102 |
missense |
probably damaging |
1.00 |
R6729:Tead2
|
UTSW |
7 |
45217234 |
missense |
probably benign |
|
R7152:Tead2
|
UTSW |
7 |
45220447 |
missense |
possibly damaging |
0.46 |
R8120:Tead2
|
UTSW |
7 |
45216328 |
intron |
probably benign |
|
R8272:Tead2
|
UTSW |
7 |
45228742 |
missense |
probably benign |
0.00 |
R8379:Tead2
|
UTSW |
7 |
45218081 |
missense |
probably damaging |
1.00 |
Z1176:Tead2
|
UTSW |
7 |
45217238 |
missense |
probably damaging |
1.00 |
|
Posted On | 2013-10-07 |