Incidental Mutation 'IGL01752:Tead3'
| ID |
153408 |
| 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 # |
IGL01752
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28550645-28569779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28552568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 275
(I275N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152030
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042334]
[ENSMUST00000114799]
[ENSMUST00000129935]
[ENSMUST00000156862]
[ENSMUST00000154873]
[ENSMUST00000219703]
|
| AlphaFold |
P70210 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042334
|
| SMART Domains |
Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L1
|
12 |
213 |
3.5e-49 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080572
AA Change: I275N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079410
Gene: ENSMUSG00000002249
AA Change: I275N
| 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: I301N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
AA Change: I301N
| 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 |
noncoding transcript
Transcript: ENSMUST00000128758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129935
|
| SMART Domains |
Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L1
|
3 |
57 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141049
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156862
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146668
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154873
AA Change: I210N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
AA Change: I210N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152665
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219703
AA Change: I275N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226172
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,318 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
A |
T |
2: 179,532,677 (GRCm39) |
N713I |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,423,286 (GRCm39) |
S639P |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,902,512 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,022,542 (GRCm39) |
T237M |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,209,049 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
T |
C |
4: 141,700,210 (GRCm39) |
K347E |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,747,106 (GRCm39) |
A118S |
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lox |
A |
G |
18: 52,653,926 (GRCm39) |
V390A |
possibly damaging |
Het |
| Lyn |
A |
T |
4: 3,743,286 (GRCm39) |
M69L |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,415 (GRCm39) |
F107L |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcnx3 |
T |
A |
19: 5,715,365 (GRCm39) |
K1962* |
probably null |
Het |
| Pde3a |
T |
C |
6: 141,433,339 (GRCm39) |
|
probably benign |
Het |
| Phf10 |
A |
G |
17: 15,175,212 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,267 (GRCm39) |
E2257G |
possibly damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
T |
G |
2: 130,530,065 (GRCm39) |
T238P |
probably damaging |
Het |
| Ssu2 |
T |
A |
6: 112,352,553 (GRCm39) |
K279N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,137 (GRCm39) |
E25252G |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,236,779 (GRCm39) |
T84A |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,306,232 (GRCm39) |
K127M |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,093 (GRCm39) |
M586K |
probably benign |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,855,510 (GRCm39) |
I2525N |
probably damaging |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
probably benign |
Het |
| Zfp52 |
T |
G |
17: 21,780,412 (GRCm39) |
C87G |
probably benign |
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 |
|
IGL01760:Tead3
|
APN |
17 |
28,552,055 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02868:Tead3
|
APN |
17 |
28,552,069 (GRCm39) |
nonsense |
probably null |
|
|
IGL02932:Tead3
|
APN |
17 |
28,560,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation