Incidental Mutation 'IGL02640:Tead1'
ID301712
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tead1
Ensembl Gene ENSMUSG00000055320
Gene NameTEA domain family member 1
SynonymsGtrgeo5, mTEF-1, 2610024B07Rik, TEAD-1, B230114H05Rik, TEF-1, Tcf13
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02640
Quality Score
Status
Chromosome7
Chromosomal Location112679318-112906807 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 112861456 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 189 (A189V)
Ref Sequence ENSEMBL: ENSMUSP00000131221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059768] [ENSMUST00000069256] [ENSMUST00000084705] [ENSMUST00000106638] [ENSMUST00000164363] [ENSMUST00000165036] [ENSMUST00000168981] [ENSMUST00000170352] [ENSMUST00000171197]
Predicted Effect probably benign
Transcript: ENSMUST00000059768
AA Change: A210V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: A210V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
Pfam:TEA 95 428 3e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069256
AA Change: A185V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: A185V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 128 144 N/A INTRINSIC
PDB:3KYS|C 194 411 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000084705
AA Change: A185V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: A185V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 128 144 N/A INTRINSIC
PDB:3KYS|C 194 411 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000106638
AA Change: A189V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: A189V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
PDB:3KYS|C 198 415 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000164363
AA Change: A210V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: A210V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
internal_repeat_1 95 119 8.98e-7 PROSPERO
low complexity region 153 169 N/A INTRINSIC
PDB:3KYS|C 219 436 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000165036
AA Change: A189V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: A189V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
PDB:3KYS|C 198 415 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000167060
SMART Domains Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320

DomainStartEndE-ValueType
Pfam:TEA 1 128 1.8e-28 PFAM
low complexity region 132 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168981
AA Change: A168V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: A168V

DomainStartEndE-ValueType
Pfam:TEA 1 386 7.1e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170352
AA Change: A164V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: A164V

DomainStartEndE-ValueType
Pfam:TEA 1 382 4.5e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171197
AA Change: A189V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: A189V

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
Pfam:TEA 222 349 3e-59 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene die between embryonic day 11 and 12.5. Abnormalities were seen in heart development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik T C X: 89,752,604 V14A probably benign Het
Alkbh3 C A 2: 93,996,361 R165L possibly damaging Het
Arap3 A G 18: 37,987,802 V730A possibly damaging Het
Arcn1 A C 9: 44,751,317 I344S probably damaging Het
Ascc3 A C 10: 50,767,374 D1807A possibly damaging Het
Atp2b3 A G X: 73,542,205 S615G probably benign Het
Ccdc40 A G 11: 119,238,078 N450S probably benign Het
Cep41 T C 6: 30,658,868 E160G probably benign Het
Cxxc1 T C 18: 74,221,183 L654P probably damaging Het
Dupd1 T A 14: 21,703,055 T8S probably damaging Het
Gnb4 C T 3: 32,591,225 A106T probably benign Het
Gosr1 T C 11: 76,754,777 N59S probably benign Het
Itgav A G 2: 83,791,939 T622A probably benign Het
Lamc2 A G 1: 153,152,057 I207T probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Mcm3ap G T 10: 76,506,421 D1583Y probably damaging Het
Mphosph9 A T 5: 124,315,500 F220I possibly damaging Het
Olfr113 A G 17: 37,575,021 V134A possibly damaging Het
Olfr698 A T 7: 106,753,352 F12Y probably damaging Het
Plcb1 T G 2: 135,220,859 probably benign Het
Polr3c G A 3: 96,716,686 T312M probably damaging Het
Ptpn12 G T 5: 21,019,246 D116E probably damaging Het
Ptprb A G 10: 116,338,664 D747G probably damaging Het
Scn9a A G 2: 66,536,096 probably null Het
Slit3 T C 11: 35,700,345 V1328A probably benign Het
Sucla2 C A 14: 73,581,806 S264Y probably benign Het
Tagln3 T C 16: 45,724,233 D25G probably benign Het
Tbck A G 3: 132,774,486 T709A probably benign Het
Tmem234 A G 4: 129,601,103 Q46R probably damaging Het
Trpm1 T A 7: 64,219,133 L395Q probably damaging Het
Tti2 T A 8: 31,155,914 W419R probably damaging Het
Vmn2r3 A T 3: 64,287,395 M34K probably benign Het
Vps13c G T 9: 67,886,248 probably benign Het
Zfp521 A T 18: 13,844,930 Y809N probably benign Het
Other mutations in Tead1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Tead1 APN 7 112839455 missense probably damaging 1.00
IGL00678:Tead1 APN 7 112841880 splice site probably null
R0635:Tead1 UTSW 7 112891706 splice site probably benign
R1469:Tead1 UTSW 7 112876184 missense probably damaging 1.00
R1469:Tead1 UTSW 7 112876184 missense probably damaging 1.00
R1981:Tead1 UTSW 7 112891745 missense probably benign 0.03
R2679:Tead1 UTSW 7 112856846 missense probably damaging 1.00
R2866:Tead1 UTSW 7 112759487 missense probably damaging 0.98
R4060:Tead1 UTSW 7 112876062 splice site probably null
R4810:Tead1 UTSW 7 112841866 intron probably null
R5253:Tead1 UTSW 7 112861545 missense probably damaging 1.00
R5266:Tead1 UTSW 7 112759466 utr 5 prime probably benign
R6316:Tead1 UTSW 7 112891839 missense probably damaging 1.00
R6479:Tead1 UTSW 7 112861465 missense probably benign 0.00
R6562:Tead1 UTSW 7 112861443 missense probably benign
R7178:Tead1 UTSW 7 112841937 missense probably benign 0.00
R7207:Tead1 UTSW 7 112842080 missense possibly damaging 0.78
X0028:Tead1 UTSW 7 112859116 missense possibly damaging 0.64
Posted On2015-04-16