Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Tead1'

250761

Institutional Source

Beutler Lab

Gene Symbol

Tead1

Ensembl Gene

ENSMUSG00000055320

Gene Name

TEA domain family member 1

Synonyms

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

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112679318-112906807 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112856846 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 115 (S115A)

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: S137A

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: S137A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069256
AA Change: S112A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: S112A

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: ENSMUST00000084705
AA Change: S112A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: S112A

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: S116A

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: S116A

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 benign
Transcript: ENSMUST00000164363
AA Change: S137A

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: S137A

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

possibly damaging
Transcript: ENSMUST00000165036
AA Change: S116A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: S116A

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: ENSMUST00000167060
AA Change: S115A

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

SMART Domains

Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320
AA Change: S115A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168981
AA Change: S95A

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

SMART Domains

Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: S95A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170352
AA Change: S91A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: S91A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000171197
AA Change: S116A

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

SMART Domains

Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: S116A

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

Meta Mutation Damage Score

0.5817

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Tead1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Tead1	APN	7	112839455	missense	probably damaging	1.00
IGL00678:Tead1	APN	7	112841880	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGCTTTCATGGCCCC -3'
(R):5'- ATCCACCTAGCATCACCTATCAT -3'

Sequencing Primer
(F):5'- TTTCATGGCCCCCGTGTGG -3'
(R):5'- TGACGGGCAAATGCTCTACTACTG -3'

Posted On

2014-12-04