Incidental Mutation 'R6335:Tead3'
| ID |
512934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tead3
|
| Ensembl Gene |
ENSMUSG00000002249 |
| Gene Name |
TEA domain family member 3 |
| Synonyms |
DTEF-1, Tcf13r2, TEF-5, ETFR-1, TEAD-3 |
| MMRRC Submission |
044489-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6335 (G1)
|
| Quality Score |
167.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
28550645-28569779 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28552299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 307
(L307H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152030
(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 damaging
Transcript: ENSMUST00000114799
AA Change: L333H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
AA Change: L333H
| 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 |
noncoding transcript
Transcript: ENSMUST00000143443
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154873
AA Change: L242H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
AA Change: L242H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156862
AA Change: L242H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
AA Change: L242H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TEA
|
1 |
366 |
3.8e-149 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219703
AA Change: L307H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150103
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226172
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
T |
C |
8: 12,909,481 (GRCm39) |
|
probably null |
Het |
| Best3 |
G |
T |
10: 116,838,556 (GRCm39) |
V205F |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,960 (GRCm39) |
H210R |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,894 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,849 (GRCm39) |
D1200E |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,967,784 (GRCm39) |
I756N |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,130,560 (GRCm39) |
Q947L |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,715,845 (GRCm39) |
T321A |
possibly damaging |
Het |
| Dgkz |
T |
C |
2: 91,774,724 (GRCm39) |
M87V |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,650,935 (GRCm39) |
S40R |
possibly damaging |
Het |
| Dpep1 |
T |
G |
8: 123,927,391 (GRCm39) |
L315R |
probably damaging |
Het |
| Fam221b |
G |
T |
4: 43,665,942 (GRCm39) |
T223N |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,706,185 (GRCm39) |
V1053E |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,208,973 (GRCm39) |
D227G |
probably damaging |
Het |
| Grik1 |
A |
G |
16: 87,744,794 (GRCm39) |
L486P |
probably damaging |
Het |
| Grik5 |
A |
G |
7: 24,713,019 (GRCm39) |
S836P |
probably benign |
Het |
| Grpel2 |
T |
C |
18: 61,852,792 (GRCm39) |
K70R |
possibly damaging |
Het |
| Ipo7 |
A |
G |
7: 109,617,675 (GRCm39) |
D15G |
possibly damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,377,772 (GRCm39) |
Y1284H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,072 (GRCm39) |
S692P |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,034,905 (GRCm39) |
L447P |
probably damaging |
Het |
| Mtor |
A |
G |
4: 148,550,384 (GRCm39) |
D680G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,572,004 (GRCm39) |
I172F |
unknown |
Het |
| Musk |
A |
G |
4: 58,366,811 (GRCm39) |
I476M |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,951,632 (GRCm39) |
T268A |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,563,060 (GRCm39) |
S702P |
probably damaging |
Het |
| Napa |
G |
T |
7: 15,849,562 (GRCm39) |
S258I |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,504,132 (GRCm39) |
I1039F |
probably damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,228,902 (GRCm39) |
S1238G |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
| Or1j12 |
A |
G |
2: 36,342,734 (GRCm39) |
I46V |
probably benign |
Het |
| Or5w8 |
T |
A |
2: 87,687,811 (GRCm39) |
C97* |
probably null |
Het |
| Pacs1 |
G |
T |
19: 5,210,005 (GRCm39) |
N215K |
probably damaging |
Het |
| Parp10 |
A |
G |
15: 76,126,388 (GRCm39) |
S267P |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,052 (GRCm39) |
C995F |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,099,607 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
C |
5: 92,383,613 (GRCm39) |
Y499C |
probably damaging |
Het |
| Pramel16 |
G |
T |
4: 143,675,602 (GRCm39) |
T408K |
probably benign |
Het |
| Prex2 |
A |
C |
1: 11,180,544 (GRCm39) |
I370L |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,872,420 (GRCm39) |
Y1350H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,124,351 (GRCm39) |
K284E |
probably damaging |
Het |
| Rexo1 |
A |
T |
10: 80,379,915 (GRCm39) |
Y23N |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
| Scn9a |
T |
A |
2: 66,398,608 (GRCm39) |
M1L |
possibly damaging |
Het |
| Serpinb6e |
C |
A |
13: 34,021,805 (GRCm39) |
L174F |
probably benign |
Het |
| Siae |
C |
T |
9: 37,544,277 (GRCm39) |
T275I |
probably benign |
Het |
| Sptbn5 |
C |
A |
2: 119,884,900 (GRCm39) |
|
probably benign |
Het |
| Ss18l2 |
C |
T |
9: 121,541,672 (GRCm39) |
T55I |
probably damaging |
Het |
| Taf1c |
A |
G |
8: 120,328,518 (GRCm39) |
C163R |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,382 (GRCm39) |
R505W |
probably damaging |
Het |
| Tango6 |
C |
A |
8: 107,419,308 (GRCm39) |
P285Q |
possibly damaging |
Het |
| Tdrd9 |
G |
T |
12: 112,008,186 (GRCm39) |
|
probably null |
Het |
| Ticrr |
A |
C |
7: 79,344,031 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
T |
C |
3: 54,224,995 (GRCm39) |
|
probably null |
Het |
| Upb1 |
A |
T |
10: 75,264,135 (GRCm39) |
T194S |
probably benign |
Het |
| Vav3 |
A |
G |
3: 109,470,512 (GRCm39) |
N566S |
probably benign |
Het |
| Vmn1r196 |
T |
A |
13: 22,477,887 (GRCm39) |
S175R |
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,991,917 (GRCm39) |
N589D |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCGTGTCATTGACCTGACTG -3'
(R):5'- GGCTGAAGGAACTCTACGAG -3'
Sequencing Primer
(F):5'- ATTGACCTGACTGTGCCCGAC -3'
(R):5'- CTGGGTGAGGCCTCTTCTAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation