Mutagenetix > Incidental Mutation

Incidental Mutation 'R4060:Tead1'

315818

Institutional Source

Beutler Lab

Gene Symbol

Tead1

Ensembl Gene

ENSMUSG00000055320

Gene Name

TEA domain family member 1

Synonyms

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

MMRRC Submission

041618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4060 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112278563-112505991 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 112475269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129798 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320

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

Predicted Effect

probably null
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 null
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 null
Transcript: ENSMUST00000170352

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
Pfam:TEA	1	382	4.5e-163	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170352

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
Pfam:TEA	1	382	4.5e-163	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170352

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320

Domain	Start	End	E-Value	Type
Pfam:TEA	1	382	4.5e-163	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (41/43)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,197,928 (GRCm39)	L140Q	probably damaging	Het
Abca8b	A	T	11: 109,848,027 (GRCm39)	M756K	probably benign	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdan1	T	C	2: 120,556,224 (GRCm39)	I681V	probably benign	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Cfh	T	C	1: 140,047,664 (GRCm39)	I488M	possibly damaging	Het
Cntn2	T	A	1: 132,453,634 (GRCm39)	L346F	probably damaging	Het
Creb3l2	T	C	6: 37,311,484 (GRCm39)	H435R	probably benign	Het
Dmbt1	A	G	7: 130,675,932 (GRCm39)		probably benign	Het
Fam162a	C	T	16: 35,864,451 (GRCm39)	R38K	probably benign	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Foxo1	A	G	3: 52,252,583 (GRCm39)	R249G	probably damaging	Het
Grm6	A	G	11: 50,744,051 (GRCm39)	E174G	probably damaging	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hypk	A	G	2: 121,284,160 (GRCm39)		probably benign	Het
Ifih1	T	C	2: 62,429,143 (GRCm39)	T932A	possibly damaging	Het
Igfbp1	C	A	11: 7,148,091 (GRCm39)	P45T	probably damaging	Het
Ik	A	G	18: 36,881,943 (GRCm39)	K142E	probably damaging	Het
Ltbp3	T	C	19: 5,792,348 (GRCm39)	L27P	probably benign	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Or13a20	T	C	7: 140,232,033 (GRCm39)	I47T	probably damaging	Het
Or1j14	A	G	2: 36,417,426 (GRCm39)	M1V	probably null	Het
Or7g19	T	C	9: 18,856,346 (GRCm39)	V134A	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Pcdhb20	A	G	18: 37,639,217 (GRCm39)	E581G	probably damaging	Het
Rnf146	T	C	10: 29,223,363 (GRCm39)	I174M	probably damaging	Het
Serpinb9g	G	A	13: 33,679,089 (GRCm39)	V320I	probably benign	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Slc23a3	T	G	1: 75,109,964 (GRCm39)		probably benign	Het
Ssrp1	T	G	2: 84,871,978 (GRCm39)	Y401D	probably damaging	Het
Tas2r109	A	T	6: 132,957,148 (GRCm39)	W261R	probably damaging	Het
Tas2r144	T	C	6: 42,192,563 (GRCm39)	V101A	possibly damaging	Het
Tiam2	A	G	17: 3,479,255 (GRCm39)	S663G	probably benign	Het
Trbv20	T	G	6: 41,165,195 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 128,011,135 (GRCm39)	I19M	probably benign	Het
Ttbk2	T	A	2: 120,579,465 (GRCm39)	E552D	probably benign	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	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
IGL00678:Tead1	APN	7	112,441,087 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CTGAGAGGCTTTCCTTAGGC -3'
(R):5'- CTCACCCAGAATTTGACGAGG -3'

Sequencing Primer
(F):5'- AGACTCCCGTTGTCTGGAGAC -3'
(R):5'- ATTTGACGAGGAAGAAGGCGTTTTG -3'

Posted On

2015-05-15