Mutagenetix > Incidental Mutation

Incidental Mutation 'R9209:Tead1'

698716

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112278563-112505991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112475378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 276 (F276L)

Ref Sequence

ENSEMBL: ENSMUSP00000060671 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000059768
AA Change: F276L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: F276L

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: F251L

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

SMART Domains

Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: F251L

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: F251L

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

SMART Domains

Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: F251L

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: ENSMUST00000106638
AA Change: F255L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: F255L

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: F276L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: F276L

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: F255L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: F255L

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: ENSMUST00000168981
AA Change: F234L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: F234L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000170352
AA Change: F230L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: F230L

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

Meta Mutation Damage Score

0.8135

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (73/76)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,837 (GRCm39)	N513K	possibly damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts5	A	G	16: 85,666,971 (GRCm39)	V507A	probably damaging	Het
Ap3d1	A	G	10: 80,554,918 (GRCm39)	V469A	probably benign	Het
Arhgef4	G	T	1: 34,764,241 (GRCm39)		probably null	Het
Arhgef4	A	T	1: 34,849,576 (GRCm39)	Q389L	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Azin2	T	C	4: 128,841,341 (GRCm39)	E275G	probably damaging	Het
Bhlhe23	A	G	2: 180,418,143 (GRCm39)	S132P	probably damaging	Het
Capn12	A	G	7: 28,581,243 (GRCm39)	Y32C	probably damaging	Het
Celsr2	A	T	3: 108,321,349 (GRCm39)	S488T	probably benign	Het
Cenpx	A	G	11: 120,602,582 (GRCm39)	V27A	possibly damaging	Het
Clca3a2	G	A	3: 144,778,005 (GRCm39)	P760L	probably benign	Het
Clstn3	T	C	6: 124,408,571 (GRCm39)	S951G	probably benign	Het
Clybl	C	A	14: 122,621,670 (GRCm39)	P286Q	probably benign	Het
Cmya5	T	A	13: 93,226,866 (GRCm39)	M2741L	probably benign	Het
Cntnap2	G	A	6: 47,026,183 (GRCm39)	G944E	probably damaging	Het
Col8a1	A	C	16: 57,447,283 (GRCm39)	Y742*	probably null	Het
Crb1	T	C	1: 139,171,051 (GRCm39)	K780E	probably damaging	Het
Crygc	T	A	1: 65,112,376 (GRCm39)	Y66F	probably benign	Het
Cyp2b9	G	A	7: 25,873,004 (GRCm39)	G49E	possibly damaging	Het
D130043K22Rik	T	C	13: 25,041,090 (GRCm39)	S171P	possibly damaging	Het
Dhx36	T	C	3: 62,378,895 (GRCm39)	I890V	probably benign	Het
Dpp9	C	T	17: 56,512,765 (GRCm39)	G148S	probably damaging	Het
Eml6	G	T	11: 29,781,175 (GRCm39)	S619Y	probably damaging	Het
Enpp4	A	T	17: 44,412,252 (GRCm39)	L319*	probably null	Het
Esyt1	T	C	10: 128,361,356 (GRCm39)	S113G	probably benign	Het
Fat1	A	G	8: 45,404,791 (GRCm39)	D514G	possibly damaging	Het
Fbxo16	G	A	14: 65,524,594 (GRCm39)	R38Q	probably damaging	Het
Fchsd1	A	T	18: 38,092,706 (GRCm39)	M668K	unknown	Het
Gpr149	C	T	3: 62,511,093 (GRCm39)	S302N	probably benign	Het
Gsap	A	G	5: 21,433,064 (GRCm39)	K258E	probably benign	Het
Helq	C	A	5: 100,939,218 (GRCm39)	V443F	probably benign	Het
Helq	T	A	5: 100,939,219 (GRCm39)	K442N	probably damaging	Het
Ighv1-37	T	C	12: 114,860,123 (GRCm39)	E29G	possibly damaging	Het
Ighv1-9	C	A	12: 114,547,620 (GRCm39)	M1I	probably null	Het
Itga6	T	G	2: 71,671,477 (GRCm39)	F743V	probably benign	Het
Lpin1	C	A	12: 16,588,548 (GRCm39)	D881Y		Het
Lypd8	T	A	11: 58,273,640 (GRCm39)	C40S	possibly damaging	Het
Macf1	C	T	4: 123,326,227 (GRCm39)	R5092Q	probably damaging	Het
Mcm7	A	G	5: 138,166,593 (GRCm39)		probably null	Het
Micall2	G	A	5: 139,696,170 (GRCm39)	T831I	unknown	Het
Myo18b	A	T	5: 113,022,927 (GRCm39)	M155K	unknown	Het
Nckap5	T	A	1: 125,867,928 (GRCm39)	H201L	unknown	Het
Ndst2	A	T	14: 20,779,240 (GRCm39)	D333E	possibly damaging	Het
Nlgn1	A	G	3: 25,966,804 (GRCm39)		probably null	Het
Nup188	T	G	2: 30,232,397 (GRCm39)	Y1483D	probably benign	Het
Or4c109	A	C	2: 88,818,057 (GRCm39)	L163*	probably null	Het
Or52ae9	T	A	7: 103,390,319 (GRCm39)	S43C	probably benign	Het
Or52n4b	A	C	7: 108,144,664 (GRCm39)	I311L	probably benign	Het
Or5p66	T	A	7: 107,885,526 (GRCm39)	Y269F	probably benign	Het
Or8g33	T	A	9: 39,337,635 (GRCm39)	H244L	probably damaging	Het
Peg3	A	C	7: 6,711,226 (GRCm39)	I1332S	possibly damaging	Het
Piezo2	T	C	18: 63,154,372 (GRCm39)	K2469R	probably damaging	Het
Pik3cg	T	C	12: 32,247,312 (GRCm39)	M804V	probably damaging	Het
Polq	A	T	16: 36,869,011 (GRCm39)	I794F	possibly damaging	Het
Rasgef1b	A	G	5: 99,370,191 (GRCm39)	V437A	probably benign	Het
Rdm1	T	A	11: 101,518,857 (GRCm39)	D21E	probably benign	Het
Ripk4	G	T	16: 97,551,311 (GRCm39)	Q219K	possibly damaging	Het
Ropn1l	T	C	15: 31,441,471 (GRCm39)	I217V		Het
Sdf2	T	C	11: 78,136,858 (GRCm39)	S13P	unknown	Het
Selenbp1	A	G	3: 94,847,079 (GRCm39)	T202A	probably benign	Het
Slfn5	T	C	11: 82,850,933 (GRCm39)	F410S	possibly damaging	Het
Srrm2	A	G	17: 24,039,880 (GRCm39)	T2175A	probably benign	Het
St6galnac3	T	C	3: 153,117,360 (GRCm39)	Y121C	possibly damaging	Het
Stat1	A	G	1: 52,184,337 (GRCm39)	N417S	probably benign	Het
Teddm3	A	T	16: 20,971,737 (GRCm39)	S277R	probably benign	Het
Tmc2	A	G	2: 130,103,317 (GRCm39)		probably null	Het
Tmem156	G	A	5: 65,231,127 (GRCm39)	L248F	probably damaging	Het
Tnn	T	C	1: 159,953,986 (GRCm39)	S590G	probably benign	Het
Trmt44	A	G	5: 35,731,422 (GRCm39)		probably null	Het
Upp2	T	A	2: 58,668,022 (GRCm39)	Y238*	probably null	Het
Usp32	T	C	11: 84,930,838 (GRCm39)	T531A	probably damaging	Het
Vmn2r78	A	T	7: 86,569,431 (GRCm39)	D108V	probably benign	Het
Wdfy3	G	T	5: 102,078,830 (GRCm39)	A824E	probably benign	Het
Xylt1	T	C	7: 117,255,870 (GRCm39)	V814A	probably benign	Het
Zfy1	C	T	Y: 732,990 (GRCm39)	R281H	unknown	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
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
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'- TCTCCGTAAGCATGTGTCTC -3'
(R):5'- AGCTTCACACTGTGACTCCAG -3'

Sequencing Primer
(F):5'- GATGAGATTTCAAGATTCCCACTCC -3'
(R):5'- GACTCCAGTCACCTGTGTG -3'

Posted On

2022-02-07