Incidental Mutation 'IGL00678:Tead1'
ID14421
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 #IGL00678
Quality Score
Status
Chromosome7
Chromosomal Location112679318-112906807 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 112841880 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000059768] [ENSMUST00000069256] [ENSMUST00000084705] [ENSMUST00000106638] [ENSMUST00000164363] [ENSMUST00000165036] [ENSMUST00000168981] [ENSMUST00000170352] [ENSMUST00000171197]
Predicted Effect probably null
Transcript: ENSMUST00000059768
SMART Domains Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
Pfam:TEA 95 428 3e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069256
SMART Domains Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320

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
SMART Domains Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320

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
SMART Domains Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320

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 null
Transcript: ENSMUST00000164363
SMART Domains Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320

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 null
Transcript: ENSMUST00000165036
SMART Domains Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320

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 null
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 noncoding transcript
Transcript: ENSMUST00000168328
Predicted Effect probably benign
Transcript: ENSMUST00000168981
SMART Domains Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320

DomainStartEndE-ValueType
Pfam:TEA 1 386 7.1e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170352
SMART Domains Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320

DomainStartEndE-ValueType
Pfam:TEA 1 382 4.5e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171197
SMART Domains Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
Pfam:TEA 222 349 3e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210510
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz2b T C 2: 60,006,183 E2G unknown Het
Bbs2 T A 8: 94,089,167 probably null Het
Cdk14 T C 5: 5,249,237 probably benign Het
Cubn A T 2: 13,467,710 I477N possibly damaging Het
Dtl A C 1: 191,546,626 probably null Het
Ercc6l2 T A 13: 63,844,613 V292E probably damaging Het
Eri3 A G 4: 117,564,891 H122R probably benign Het
Glrx3 T A 7: 137,452,713 V75D probably damaging Het
Ifi213 A G 1: 173,594,053 probably benign Het
Ppp1cb T A 5: 32,485,338 probably benign Het
Rb1cc1 A G 1: 6,234,085 T66A probably damaging Het
Slco6d1 A G 1: 98,496,344 S574G probably benign Het
Tas2r136 A T 6: 132,777,198 L322Q probably damaging Het
Tsfm G A 10: 127,028,442 Q135* probably null Het
Other mutations in Tead1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Tead1 APN 7 112839455 missense probably damaging 1.00
IGL02640:Tead1 APN 7 112861456 missense probably benign 0.09
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
R7996:Tead1 UTSW 7 112842104 critical splice donor site probably null
R8037:Tead1 UTSW 7 112759520 missense possibly damaging 0.67
R8057:Tead1 UTSW 7 112759514 missense probably benign
X0028:Tead1 UTSW 7 112859116 missense possibly damaging 0.64
Posted On2012-12-06