Incidental Mutation 'IGL02868:Tead3'
| ID |
362403 |
| 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 # |
IGL02868
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
28550645-28569779 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 28552069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 354
(Y354*)
|
| 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 null
Transcript: ENSMUST00000080572
AA Change: Y354*
|
| SMART Domains |
Protein: ENSMUSP00000079410
Gene: ENSMUSG00000002249
AA Change: Y354*
| 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 null
Transcript: ENSMUST00000114799
AA Change: Y380*
|
| SMART Domains |
Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
AA Change: Y380*
| 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 null
Transcript: ENSMUST00000156862
AA Change: Y289*
|
| SMART Domains |
Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
AA Change: Y289*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154873
AA Change: Y289*
|
| SMART Domains |
Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
AA Change: Y289*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143443
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152665
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219703
AA Change: Y354*
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap4 |
A |
G |
X: 72,944,008 (GRCm39) |
I224T |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,621,639 (GRCm39) |
D758G |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,533,325 (GRCm39) |
G569V |
probably damaging |
Het |
| Dlgap4 |
G |
A |
2: 156,542,816 (GRCm39) |
R73Q |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,728,743 (GRCm39) |
|
probably benign |
Het |
| Eno3 |
T |
A |
11: 70,552,826 (GRCm39) |
V369E |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,222,425 (GRCm39) |
C1022* |
probably null |
Het |
| Grhl3 |
T |
C |
4: 135,281,915 (GRCm39) |
D319G |
probably damaging |
Het |
| Huwe1 |
G |
A |
X: 150,691,829 (GRCm39) |
R2538H |
possibly damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,965 (GRCm39) |
L2001H |
probably benign |
Het |
| Ms4a4d |
T |
A |
19: 11,527,646 (GRCm39) |
I51N |
probably damaging |
Het |
| Mtmr9 |
T |
C |
14: 63,761,588 (GRCm39) |
N522S |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,966 (GRCm39) |
I133T |
probably damaging |
Het |
| Ninl |
A |
G |
2: 150,778,974 (GRCm39) |
Y1296H |
probably benign |
Het |
| Nipal3 |
A |
G |
4: 135,194,182 (GRCm39) |
S284P |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,250,838 (GRCm39) |
F153I |
possibly damaging |
Het |
| Or5g9 |
A |
T |
2: 85,551,919 (GRCm39) |
T57S |
probably benign |
Het |
| Pramel5 |
G |
T |
4: 143,997,922 (GRCm39) |
N440K |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,765,572 (GRCm39) |
V12A |
probably benign |
Het |
| Rbm5 |
G |
T |
9: 107,626,899 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,653,626 (GRCm39) |
E155G |
probably damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,954,507 (GRCm39) |
M897K |
probably benign |
Het |
| Slc39a8 |
G |
T |
3: 135,561,787 (GRCm39) |
A169S |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,877,876 (GRCm39) |
|
probably benign |
Het |
| Tas2r107 |
T |
C |
6: 131,636,249 (GRCm39) |
T267A |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,262,239 (GRCm39) |
K579R |
possibly damaging |
Het |
| Uaca |
A |
T |
9: 60,770,919 (GRCm39) |
K362M |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,316 (GRCm39) |
I658T |
possibly damaging |
Het |
| Vps13b |
C |
T |
15: 35,884,665 (GRCm39) |
P3113S |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,738,734 (GRCm39) |
S115P |
probably damaging |
Het |
| Zfp683 |
G |
A |
4: 133,783,177 (GRCm39) |
V214M |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation