Incidental Mutation 'IGL01760:Tead3'
| ID |
153241 |
| 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 # |
IGL01760
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28550645-28569779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28552055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 385
(N385S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042334]
[ENSMUST00000114799]
[ENSMUST00000129935]
[ENSMUST00000154873]
[ENSMUST00000156862]
[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 benign
Transcript: ENSMUST00000080572
AA Change: N359S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000079410
Gene: ENSMUSG00000002249
AA Change: N359S
| 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 benign
Transcript: ENSMUST00000114799
AA Change: N385S
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
AA Change: N385S
| 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 benign
Transcript: ENSMUST00000154873
AA Change: N294S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
AA Change: N294S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156862
AA Change: N294S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
AA Change: N294S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219703
AA Change: N359S
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
| Chst3 |
A |
T |
10: 60,022,292 (GRCm39) |
V185D |
probably damaging |
Het |
| Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
| Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
| Erlec1 |
A |
C |
11: 30,884,731 (GRCm39) |
S441A |
probably benign |
Het |
| Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
| Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
| Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
| Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
| Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
| Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
| Napa |
A |
G |
7: 15,832,669 (GRCm39) |
N23S |
possibly damaging |
Het |
| Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
| Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,677,016 (GRCm39) |
N273K |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
| Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
| Trim13 |
T |
A |
14: 61,843,172 (GRCm39) |
N396K |
probably benign |
Het |
| Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
| Wsb1 |
T |
C |
11: 79,132,867 (GRCm39) |
Y276C |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
probably damaging |
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 |
|
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