Incidental Mutation 'IGL03302:Tead2'
ID |
416267 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tead2
|
Ensembl Gene |
ENSMUSG00000030796 |
Gene Name |
TEA domain family member 2 |
Synonyms |
TEF-4, TEAD-2, Etdf |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03302
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44865216-44882892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 44882323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 121
(Y121D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033060]
[ENSMUST00000033063]
[ENSMUST00000097216]
[ENSMUST00000098461]
[ENSMUST00000107801]
[ENSMUST00000209343]
[ENSMUST00000209478]
[ENSMUST00000210372]
[ENSMUST00000210226]
[ENSMUST00000209779]
[ENSMUST00000211373]
[ENSMUST00000210078]
|
AlphaFold |
P48301 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033060
AA Change: Y437D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000033060 Gene: ENSMUSG00000030796 AA Change: Y437D
Domain | Start | End | E-Value | Type |
TEA
|
36 |
107 |
4.84e-52 |
SMART |
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
PDB:3L15|B
|
218 |
445 |
1e-143 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033063
|
SMART Domains |
Protein: ENSMUSP00000033063 Gene: ENSMUSG00000030798
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
31 |
292 |
9.5e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000097216
AA Change: Y402D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103430 Gene: ENSMUSG00000030796 AA Change: Y402D
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
38 |
N/A |
INTRINSIC |
Pfam:TEA
|
40 |
402 |
1.8e-137 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098461
|
SMART Domains |
Protein: ENSMUSP00000096061 Gene: ENSMUSG00000030798
Domain | Start | End | E-Value | Type |
Pfam:Tetraspannin
|
10 |
270 |
3.5e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107801
AA Change: Y437D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000103431 Gene: ENSMUSG00000030796 AA Change: Y437D
Domain | Start | End | E-Value | Type |
TEA
|
36 |
107 |
4.84e-52 |
SMART |
low complexity region
|
201 |
217 |
N/A |
INTRINSIC |
PDB:3L15|B
|
218 |
445 |
1e-143 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209343
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209478
AA Change: Y121D
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210372
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210226
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209779
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210000
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210078
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209677
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a functionally null allele of this gene exhibit no gross abnormalities and are fertile. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
Ccr9 |
T |
A |
9: 123,608,601 (GRCm39) |
D94E |
probably damaging |
Het |
Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
Cyp4a14 |
T |
C |
4: 115,348,575 (GRCm39) |
I330V |
probably benign |
Het |
Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
Gcnt1 |
G |
T |
19: 17,306,547 (GRCm39) |
R393S |
probably benign |
Het |
Lctl |
C |
T |
9: 64,042,130 (GRCm39) |
|
probably benign |
Het |
Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
Zc3h7a |
T |
A |
16: 10,959,574 (GRCm39) |
H793L |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
possibly damaging |
Het |
|
Other mutations in Tead2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01365:Tead2
|
APN |
7 |
44,866,675 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01887:Tead2
|
APN |
7 |
44,881,734 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02378:Tead2
|
APN |
7 |
44,867,571 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02441:Tead2
|
APN |
7 |
44,866,845 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:Tead2
|
APN |
7 |
44,881,720 (GRCm39) |
nonsense |
probably null |
|
IGL02939:Tead2
|
APN |
7 |
44,869,858 (GRCm39) |
splice site |
probably benign |
|
R0325:Tead2
|
UTSW |
7 |
44,875,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R0611:Tead2
|
UTSW |
7 |
44,866,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R2571:Tead2
|
UTSW |
7 |
44,875,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R3401:Tead2
|
UTSW |
7 |
44,873,097 (GRCm39) |
unclassified |
probably benign |
|
R3847:Tead2
|
UTSW |
7 |
44,881,752 (GRCm39) |
splice site |
probably null |
|
R3849:Tead2
|
UTSW |
7 |
44,881,752 (GRCm39) |
splice site |
probably null |
|
R3850:Tead2
|
UTSW |
7 |
44,881,752 (GRCm39) |
splice site |
probably null |
|
R5729:Tead2
|
UTSW |
7 |
44,870,166 (GRCm39) |
unclassified |
probably benign |
|
R5932:Tead2
|
UTSW |
7 |
44,882,323 (GRCm39) |
missense |
probably benign |
0.00 |
R5956:Tead2
|
UTSW |
7 |
44,870,138 (GRCm39) |
unclassified |
probably benign |
|
R6208:Tead2
|
UTSW |
7 |
44,867,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R6729:Tead2
|
UTSW |
7 |
44,866,658 (GRCm39) |
missense |
probably benign |
|
R7152:Tead2
|
UTSW |
7 |
44,869,871 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8120:Tead2
|
UTSW |
7 |
44,865,752 (GRCm39) |
intron |
probably benign |
|
R8272:Tead2
|
UTSW |
7 |
44,878,166 (GRCm39) |
missense |
probably benign |
0.00 |
R8379:Tead2
|
UTSW |
7 |
44,867,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R8719:Tead2
|
UTSW |
7 |
44,882,316 (GRCm39) |
unclassified |
probably benign |
|
R9278:Tead2
|
UTSW |
7 |
44,880,776 (GRCm39) |
missense |
probably benign |
0.03 |
R9362:Tead2
|
UTSW |
7 |
44,881,740 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tead2
|
UTSW |
7 |
44,866,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |