Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Tead1'

558773

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

045232-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112278563-112505991 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112441144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 91 (Q91L)

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 benign
Transcript: ENSMUST00000059768
AA Change: Q91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: Q91L

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 benign
Transcript: ENSMUST00000164363
AA Change: Q91L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: Q91L

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: Q91L

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: Q91L

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

SMART Domains

Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320
AA Change: Q73L

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 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: ENSMUST00000170352

SMART Domains

Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,535,745 (GRCm39)	I130T	possibly damaging	Het
Adam24	T	A	8: 41,133,039 (GRCm39)	L169*	probably null	Het
Als2	A	T	1: 59,246,971 (GRCm39)	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,688,599 (GRCm39)	N212K		Het
Anpep	T	C	7: 79,490,736 (GRCm39)	D260G	probably benign	Het
Arhgap17	A	T	7: 122,884,581 (GRCm39)		probably null	Het
Atad2	C	T	15: 57,980,689 (GRCm39)	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,874,099 (GRCm39)	M696K	probably benign	Het
Atp13a2	A	G	4: 140,726,462 (GRCm39)	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,850,979 (GRCm39)	D29G	possibly damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Cep250	T	A	2: 155,815,375 (GRCm39)	L631*	probably null	Het
Cimip2a	G	A	2: 25,110,252 (GRCm39)	V55I	probably damaging	Het
Clec4a3	T	C	6: 122,941,251 (GRCm39)	I82T	probably benign	Het
Csmd3	T	A	15: 47,454,170 (GRCm39)	I2648F		Het
Cul5	A	G	9: 53,555,826 (GRCm39)	F247L	probably benign	Het
Dnajc24	A	T	2: 105,800,807 (GRCm39)	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,344,200 (GRCm39)	V1848E	probably damaging	Het
Dspp	A	G	5: 104,321,932 (GRCm39)	T14A	probably benign	Het
Gm7298	T	G	6: 121,762,855 (GRCm39)	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,842,220 (GRCm39)	S62R	unknown	Het
Gtsf1	T	G	15: 103,328,388 (GRCm39)	N130T	probably benign	Het
Heatr5a	C	A	12: 51,971,925 (GRCm39)	S755I	probably damaging	Het
Hrc	A	G	7: 44,985,685 (GRCm39)	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,371,573 (GRCm39)	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,834 (GRCm39)	S256G	probably benign	Het
Insyn2b	G	T	11: 34,352,359 (GRCm39)	V134F	probably damaging	Het
Ipo13	A	G	4: 117,761,081 (GRCm39)	S546P	possibly damaging	Het
Katnip	T	C	7: 125,465,499 (GRCm39)	V1317A	probably benign	Het
Kif24	A	G	4: 41,395,085 (GRCm39)	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,555,275 (GRCm39)	V176A	probably benign	Het
Lgi1	T	C	19: 38,294,733 (GRCm39)	Y502H	probably damaging	Het
Liph	T	A	16: 21,795,078 (GRCm39)	D178V	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mak16	A	C	8: 31,656,602 (GRCm39)	S42A	probably benign	Het
Mamdc4	T	C	2: 25,458,977 (GRCm39)	I269V	probably benign	Het
Mapk8ip3	A	T	17: 25,120,728 (GRCm39)	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788 (GRCm38)	S889T	unknown	Het
Npy6r	A	G	18: 44,409,551 (GRCm39)	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,005,895 (GRCm39)	T489P	possibly damaging	Het
Or52a5b	G	A	7: 103,417,182 (GRCm39)	Q141*	probably null	Het
Or5h19	T	A	16: 58,856,296 (GRCm39)	D268V	probably benign	Het
Or5t17	G	A	2: 86,832,879 (GRCm39)	V189I	probably benign	Het
Otof	G	C	5: 30,540,878 (GRCm39)	T887S	possibly damaging	Het
Papola	T	C	12: 105,773,443 (GRCm39)	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,622,946 (GRCm39)	H1421R	probably benign	Het
Plpp5	T	C	8: 26,210,606 (GRCm39)	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,568,337 (GRCm39)	I154L	probably benign	Het
Prr18	A	C	17: 8,560,741 (GRCm39)	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,697,521 (GRCm39)	S198F	possibly damaging	Het
Qars1	T	C	9: 108,392,322 (GRCm39)	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,285,959 (GRCm39)	R185*	probably null	Het
Scn2a	C	T	2: 65,579,197 (GRCm39)	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,008,506 (GRCm39)	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,165,455 (GRCm39)	T175A	probably damaging	Het
Skic2	T	C	17: 35,058,440 (GRCm39)	T1226A	probably benign	Het
Slc17a6	A	G	7: 51,317,259 (GRCm39)	I427V	possibly damaging	Het
Slc2a2	C	T	3: 28,773,631 (GRCm39)	A312V	possibly damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spcs1	G	A	14: 30,722,438 (GRCm39)	S127F	possibly damaging	Het
Speg	T	C	1: 75,399,027 (GRCm39)	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,117,481 (GRCm39)	I423F	probably damaging	Het
Synj2	T	A	17: 6,076,754 (GRCm39)	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,032,623 (GRCm39)	D45V	probably damaging	Het
Tcf3	C	A	10: 80,257,433 (GRCm39)	V11F	unknown	Het
Tgm5	T	A	2: 120,916,249 (GRCm39)		probably benign	Het
Tgoln1	C	T	6: 72,593,028 (GRCm39)	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,755,264 (GRCm39)	N445K	probably benign	Het
Ttn	G	C	2: 76,540,514 (GRCm39)	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,356,424 (GRCm39)	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,887,006 (GRCm39)	L684F	probably damaging	Het
Zfp661	T	C	2: 127,419,456 (GRCm39)	D228G	probably benign	Het
Zfp738	T	C	13: 67,821,147 (GRCm39)	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,099,192 (GRCm39)	D378E	probably damaging	Het
Zswim9	T	A	7: 12,993,924 (GRCm39)	D744V	possibly 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
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
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'- GGGACTGTATGTTCCTAACTGC -3'
(R):5'- AGCGCATACCTTCAGCTTGG -3'

Sequencing Primer
(F):5'- GACTGTATGTTCCTAACTGCAGAGC -3'
(R):5'- CCTTCAGCTTGGAATGAAAATCACG -3'

Posted On

2019-06-26