Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00475:Tead1'

5145

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 #

IGL00475

Quality Score

Status

Chromosome

Chromosomal Location

112278563-112505991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112438662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 66 (T66K)

Ref Sequence

ENSEMBL: ENSMUSP00000081755 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059768
AA Change: T66K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: T66K

Domain	Start	End	E-Value	Type
TEA	11	82	3.67e-52	SMART
Pfam:TEA	95	428	3e-127	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069256
AA Change: T66K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: T66K

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 damaging
Transcript: ENSMUST00000084705
AA Change: T66K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: T66K

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

possibly damaging
Transcript: ENSMUST00000106638
AA Change: T66K

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: T66K

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 damaging
Transcript: ENSMUST00000164363
AA Change: T66K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: T66K

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 damaging
Transcript: ENSMUST00000165036
AA Change: T66K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: T66K

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

unknown
Transcript: ENSMUST00000167060
AA Change: T48K

SMART Domains

Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320
AA Change: T48K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170352
AA Change: T66K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: T66K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168981
AA Change: T66K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: T66K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171197
AA Change: T66K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: T66K

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

noncoding transcript
Transcript: ENSMUST00000172065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168328

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	A	16: 14,254,437 (GRCm39)	A583T	probably damaging	Het
Cdh10	A	T	15: 19,013,349 (GRCm39)	I650F	probably damaging	Het
Ces1a	A	G	8: 93,747,095 (GRCm39)	L548P	probably damaging	Het
Commd9	C	T	2: 101,725,501 (GRCm39)	R25*	probably null	Het
Depdc1b	T	A	13: 108,493,974 (GRCm39)	Y121N	probably benign	Het
Epha6	A	T	16: 59,736,325 (GRCm39)	F736L	probably damaging	Het
Fancd2	A	G	6: 113,545,571 (GRCm39)	K868R	probably benign	Het
Fgd1	C	T	X: 149,855,440 (GRCm39)	A502V	probably benign	Het
Gm5111	A	T	6: 48,566,620 (GRCm39)		probably benign	Het
Gria1	G	T	11: 57,133,767 (GRCm39)	G480*	probably null	Het
Krt5	T	C	15: 101,621,076 (GRCm39)	Y57C	unknown	Het
Metap1d	C	T	2: 71,346,090 (GRCm39)	A217V	probably damaging	Het
Mrpl1	A	G	5: 96,374,144 (GRCm39)	K140E	probably damaging	Het
Mta3	C	T	17: 84,015,861 (GRCm39)	P21L	probably damaging	Het
Nanog	A	T	6: 122,688,495 (GRCm39)		probably null	Het
Ogn	A	G	13: 49,776,391 (GRCm39)	I277V	probably benign	Het
Pole	T	A	5: 110,438,962 (GRCm39)	Y187*	probably null	Het
Psme4	A	T	11: 30,795,252 (GRCm39)	K1254I	probably benign	Het
Rac1	G	A	5: 143,493,093 (GRCm39)	A165V	possibly damaging	Het
Srcap	T	A	7: 127,152,093 (GRCm39)	M2185K	possibly damaging	Het
Svep1	T	A	4: 58,176,077 (GRCm39)	D274V	probably damaging	Het
Taf2	A	T	15: 54,919,246 (GRCm39)	Y376*	probably null	Het
Vps53	C	T	11: 75,967,861 (GRCm39)		probably null	Het
Zfp658	A	G	7: 43,223,500 (GRCm39)	R592G	possibly damaging	Het
Zfyve1	T	A	12: 83,602,485 (GRCm39)		probably null	Het

Other mutations in Tead1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20