Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00678:Tead1'

14421

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tead1

Ensembl Gene

ENSMUSG00000055320

Gene Name

TEA domain family member 1

Synonyms

mTEF-1, Tcf13, TEAD-1, TEF-1, Gtrgeo5, B230114H05Rik, 2610024B07Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00678

Quality Score

Status

Chromosome

Chromosomal Location

112278563-112505991 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 112441087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059768] [ENSMUST00000069256] [ENSMUST00000084705] [ENSMUST00000106638] [ENSMUST00000164363] [ENSMUST00000165036] [ENSMUST00000168981] [ENSMUST00000171197] [ENSMUST00000170352]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000059768

SMART Domains

Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:TEA	1	128	1.8e-28	PFAM
low complexity region	132	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210510

Predicted Effect

probably benign
Transcript: ENSMUST00000168981

SMART Domains

Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
Pfam:TEA	1	386	7.1e-166	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171197

SMART Domains

Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
TEA	11	82	3.67e-52	SMART
low complexity region	132	148	N/A	INTRINSIC
Pfam:TEA	222	349	3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170352

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
Pfam:TEA	1	382	4.5e-163	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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz2b	T	C	2: 59,836,527 (GRCm39)	E2G	unknown	Het
Bbs2	T	A	8: 94,815,795 (GRCm39)		probably null	Het
Cdk14	T	C	5: 5,299,237 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,472,521 (GRCm39)	I477N	possibly damaging	Het
Dtl	A	C	1: 191,278,738 (GRCm39)		probably null	Het
Ercc6l2	T	A	13: 63,992,427 (GRCm39)	V292E	probably damaging	Het
Eri3	A	G	4: 117,422,088 (GRCm39)	H122R	probably benign	Het
Glrx3	T	A	7: 137,054,442 (GRCm39)	V75D	probably damaging	Het
Ifi213	A	G	1: 173,421,619 (GRCm39)		probably benign	Het
Ppp1cb	T	A	5: 32,642,682 (GRCm39)		probably benign	Het
Rb1cc1	A	G	1: 6,304,309 (GRCm39)	T66A	probably damaging	Het
Slco6d1	A	G	1: 98,424,069 (GRCm39)	S574G	probably benign	Het
Tas2r136	A	T	6: 132,754,161 (GRCm39)	L322Q	probably damaging	Het
Tsfm	G	A	10: 126,864,311 (GRCm39)	Q135*	probably null	Het

Other mutations in Tead1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Tead1	APN	7	112,438,662 (GRCm39)	missense	probably damaging	1.00
IGL02640:Tead1	APN	7	112,460,663 (GRCm39)	missense	probably benign	0.09
R0635:Tead1	UTSW	7	112,490,913 (GRCm39)	splice site	probably benign
R1469:Tead1	UTSW	7	112,475,391 (GRCm39)	missense	probably damaging	1.00
R1469:Tead1	UTSW	7	112,475,391 (GRCm39)	missense	probably damaging	1.00
R1981:Tead1	UTSW	7	112,490,952 (GRCm39)	missense	probably benign	0.03
R2679:Tead1	UTSW	7	112,456,053 (GRCm39)	missense	probably damaging	1.00
R2866:Tead1	UTSW	7	112,358,694 (GRCm39)	missense	probably damaging	0.98
R4060:Tead1	UTSW	7	112,475,269 (GRCm39)	splice site	probably null
R4810:Tead1	UTSW	7	112,441,073 (GRCm39)	splice site	probably null
R5253:Tead1	UTSW	7	112,460,752 (GRCm39)	missense	probably damaging	1.00
R5266:Tead1	UTSW	7	112,358,673 (GRCm39)	utr 5 prime	probably benign
R6316:Tead1	UTSW	7	112,491,046 (GRCm39)	missense	probably damaging	1.00
R6479:Tead1	UTSW	7	112,460,672 (GRCm39)	missense	probably benign	0.00
R6562:Tead1	UTSW	7	112,460,650 (GRCm39)	missense	probably benign
R7178:Tead1	UTSW	7	112,441,144 (GRCm39)	missense	probably benign	0.00
R7207:Tead1	UTSW	7	112,441,287 (GRCm39)	missense	possibly damaging	0.78
R7996:Tead1	UTSW	7	112,441,311 (GRCm39)	critical splice donor site	probably null
R8037:Tead1	UTSW	7	112,358,727 (GRCm39)	missense	possibly damaging	0.67
R8057:Tead1	UTSW	7	112,358,721 (GRCm39)	missense	probably benign
R8415:Tead1	UTSW	7	112,456,135 (GRCm39)	missense	probably benign	0.00
R8827:Tead1	UTSW	7	112,475,449 (GRCm39)	missense	probably damaging	1.00
R8933:Tead1	UTSW	7	112,497,818 (GRCm39)	missense	probably benign	0.01
R9209:Tead1	UTSW	7	112,475,378 (GRCm39)	missense	probably damaging	1.00
R9245:Tead1	UTSW	7	112,358,723 (GRCm39)	missense	probably benign
R9276:Tead1	UTSW	7	112,493,601 (GRCm39)	missense	probably damaging	1.00
R9380:Tead1	UTSW	7	112,441,105 (GRCm39)	missense	possibly damaging	0.68
X0028:Tead1	UTSW	7	112,458,323 (GRCm39)	missense	possibly damaging	0.64

Posted On

2012-12-06