Incidental Mutation 'IGL02932:Tead3'
ID |
364145 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tead3
|
Ensembl Gene |
ENSMUSG00000002249 |
Gene Name |
TEA domain family member 3 |
Synonyms |
DTEF-1, Tcf13r2, TEF-5, ETFR-1, TEAD-3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02932
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
28550645-28569779 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28560325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 2
(Y2C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114799]
[ENSMUST00000154873]
[ENSMUST00000156862]
[ENSMUST00000219703]
|
AlphaFold |
P70210 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080572
AA Change: Y67C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079410 Gene: ENSMUSG00000002249 AA Change: Y67C
Domain | Start | End | E-Value | Type |
TEA
|
26 |
97 |
9.04e-52 |
SMART |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
PDB:3KYS|C
|
222 |
439 |
1e-121 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114799
AA Change: Y93C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110447 Gene: ENSMUSG00000002249 AA Change: Y93C
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
TEA
|
52 |
123 |
9.04e-52 |
SMART |
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
low complexity region
|
181 |
202 |
N/A |
INTRINSIC |
low complexity region
|
208 |
222 |
N/A |
INTRINSIC |
low complexity region
|
227 |
244 |
N/A |
INTRINSIC |
PDB:3KYS|C
|
248 |
465 |
1e-120 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127212
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154873
AA Change: Y2C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118582 Gene: ENSMUSG00000002249 AA Change: Y2C
Domain | Start | End | E-Value | Type |
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156862
AA Change: Y2C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115443 Gene: ENSMUSG00000002249 AA Change: Y2C
Domain | Start | End | E-Value | Type |
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219703
AA Change: Y67C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226172
|
Meta Mutation Damage Score |
0.5669 |
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and thought to play a role in placental gene regulation and development. Alternative splicing, and alternate use of an upstream AUG translation initiation codon, and an in-frame downstream non-AUG (AUA) codon, results in 2 isoforms. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap42 |
T |
A |
9: 9,115,709 (GRCm39) |
E122D |
probably damaging |
Het |
Asb3 |
G |
A |
11: 30,979,067 (GRCm39) |
|
probably null |
Het |
Avl9 |
T |
C |
6: 56,713,536 (GRCm39) |
S265P |
probably benign |
Het |
Cep44 |
C |
T |
8: 57,000,459 (GRCm39) |
R18Q |
probably damaging |
Het |
Clec10a |
T |
C |
11: 70,060,554 (GRCm39) |
|
probably benign |
Het |
Cog4 |
A |
G |
8: 111,579,065 (GRCm39) |
I115V |
probably benign |
Het |
Coq3 |
C |
T |
4: 21,900,430 (GRCm39) |
A219V |
probably benign |
Het |
Cry2 |
G |
A |
2: 92,243,462 (GRCm39) |
R460* |
probably null |
Het |
Ddx39b |
A |
G |
17: 35,472,337 (GRCm39) |
|
probably benign |
Het |
Dhx40 |
G |
A |
11: 86,662,755 (GRCm39) |
R646C |
probably damaging |
Het |
Ears2 |
G |
A |
7: 121,662,284 (GRCm39) |
R55C |
probably damaging |
Het |
Eif3m |
C |
T |
2: 104,845,214 (GRCm39) |
G26R |
probably damaging |
Het |
Exo5 |
A |
G |
4: 120,779,742 (GRCm39) |
L41P |
probably benign |
Het |
Fut10 |
A |
G |
8: 31,749,965 (GRCm39) |
H417R |
probably damaging |
Het |
Gars1 |
T |
A |
6: 55,037,929 (GRCm39) |
L296Q |
probably damaging |
Het |
Gpr143 |
A |
T |
X: 151,576,439 (GRCm39) |
|
probably benign |
Het |
Htr1b |
C |
A |
9: 81,513,689 (GRCm39) |
R306L |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,661,858 (GRCm39) |
A2185T |
probably damaging |
Het |
Mbd5 |
C |
A |
2: 49,169,460 (GRCm39) |
Q1544K |
possibly damaging |
Het |
Mccc1 |
T |
C |
3: 36,014,178 (GRCm39) |
E713G |
possibly damaging |
Het |
Mttp |
A |
G |
3: 137,817,505 (GRCm39) |
F415S |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,864,386 (GRCm39) |
T1428A |
probably benign |
Het |
Mup6 |
A |
C |
4: 60,006,009 (GRCm39) |
D159A |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,037,472 (GRCm39) |
L698P |
probably damaging |
Het |
Or2w6 |
A |
T |
13: 21,843,001 (GRCm39) |
M164K |
probably damaging |
Het |
Or4p22 |
G |
T |
2: 88,317,519 (GRCm39) |
V148F |
probably benign |
Het |
Or5p70 |
A |
G |
7: 107,994,720 (GRCm39) |
N131S |
probably benign |
Het |
Or6c217 |
A |
T |
10: 129,738,287 (GRCm39) |
C97* |
probably null |
Het |
Osgepl1 |
G |
A |
1: 53,360,675 (GRCm39) |
R372H |
probably benign |
Het |
Pias2 |
C |
T |
18: 77,232,799 (GRCm39) |
H537Y |
probably damaging |
Het |
Slc38a7 |
A |
C |
8: 96,572,783 (GRCm39) |
I149M |
probably damaging |
Het |
Smn1 |
A |
G |
13: 100,264,472 (GRCm39) |
T68A |
probably benign |
Het |
Syde2 |
A |
G |
3: 145,707,231 (GRCm39) |
K657R |
possibly damaging |
Het |
Tdrd5 |
A |
T |
1: 156,098,190 (GRCm39) |
H625Q |
possibly damaging |
Het |
Tmem255a |
T |
A |
X: 37,296,940 (GRCm39) |
T280S |
probably benign |
Het |
Ttpa |
A |
G |
4: 20,021,215 (GRCm39) |
T128A |
possibly damaging |
Het |
Wdhd1 |
A |
G |
14: 47,509,591 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tead3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00493:Tead3
|
APN |
17 |
28,551,780 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01752:Tead3
|
APN |
17 |
28,552,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01760:Tead3
|
APN |
17 |
28,552,055 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02868:Tead3
|
APN |
17 |
28,552,069 (GRCm39) |
nonsense |
probably null |
|
R0015:Tead3
|
UTSW |
17 |
28,560,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R0376:Tead3
|
UTSW |
17 |
28,560,339 (GRCm39) |
missense |
probably damaging |
0.98 |
R0383:Tead3
|
UTSW |
17 |
28,553,672 (GRCm39) |
splice site |
probably null |
|
R1203:Tead3
|
UTSW |
17 |
28,560,536 (GRCm39) |
missense |
probably benign |
0.06 |
R1699:Tead3
|
UTSW |
17 |
28,553,698 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2037:Tead3
|
UTSW |
17 |
28,555,544 (GRCm39) |
missense |
probably damaging |
0.98 |
R2148:Tead3
|
UTSW |
17 |
28,552,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R4871:Tead3
|
UTSW |
17 |
28,553,962 (GRCm39) |
missense |
probably benign |
0.42 |
R4871:Tead3
|
UTSW |
17 |
28,552,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:Tead3
|
UTSW |
17 |
28,560,451 (GRCm39) |
missense |
probably benign |
0.06 |
R5557:Tead3
|
UTSW |
17 |
28,555,244 (GRCm39) |
intron |
probably benign |
|
R5891:Tead3
|
UTSW |
17 |
28,560,339 (GRCm39) |
missense |
probably damaging |
0.98 |
R5991:Tead3
|
UTSW |
17 |
28,553,352 (GRCm39) |
splice site |
probably null |
|
R6335:Tead3
|
UTSW |
17 |
28,552,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R6999:Tead3
|
UTSW |
17 |
28,560,506 (GRCm39) |
missense |
probably benign |
0.00 |
R7165:Tead3
|
UTSW |
17 |
28,552,228 (GRCm39) |
missense |
probably benign |
0.00 |
R7718:Tead3
|
UTSW |
17 |
28,552,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R7743:Tead3
|
UTSW |
17 |
28,551,801 (GRCm39) |
missense |
probably benign |
0.06 |
R8025:Tead3
|
UTSW |
17 |
28,554,009 (GRCm39) |
missense |
probably benign |
0.23 |
R8034:Tead3
|
UTSW |
17 |
28,552,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R8851:Tead3
|
UTSW |
17 |
28,551,704 (GRCm39) |
missense |
probably damaging |
0.97 |
R9245:Tead3
|
UTSW |
17 |
28,551,709 (GRCm39) |
missense |
probably benign |
0.34 |
R9262:Tead3
|
UTSW |
17 |
28,560,495 (GRCm39) |
missense |
probably benign |
0.01 |
X0066:Tead3
|
UTSW |
17 |
28,560,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |