Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Tead3'

618152

Institutional Source

Beutler Lab

Gene Symbol

Tead3

Ensembl Gene

ENSMUSG00000002249

Gene Name

TEA domain family member 3

Synonyms

DTEF-1, TEF-5, Tcf13r2, ETFR-1, TEAD-3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28331671-28350805 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 28333229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 365 (V365G)

Ref Sequence

ENSEMBL: ENSMUSP00000110447 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042334] [ENSMUST00000114799] [ENSMUST00000129935] [ENSMUST00000154873] [ENSMUST00000156862] [ENSMUST00000219703]

AlphaFold

P70210

Predicted Effect

probably benign
Transcript: ENSMUST00000042334

SMART Domains

Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L1	12	213	3.5e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114799
AA Change: V365G

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

SMART Domains

Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
AA Change: V365G

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
TEA	52	123	9.04e-52	SMART
low complexity region	150	165	N/A	INTRINSIC
low complexity region	181	202	N/A	INTRINSIC
low complexity region	208	222	N/A	INTRINSIC
low complexity region	227	244	N/A	INTRINSIC
PDB:3KYS\|C	248	465	1e-120	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000129935

SMART Domains

Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L1	3	57	1.3e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154873
AA Change: V274G

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

SMART Domains

Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
AA Change: V274G

Domain	Start	End	E-Value	Type
Pfam:TEA	1	366	3.8e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156862
AA Change: V274G

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

SMART Domains

Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
AA Change: V274G

Domain	Start	End	E-Value	Type
Pfam:TEA	1	366	3.8e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000219703
AA Change: V339G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and thought to play a role in placental gene regulation and development. Alternative splicing, and alternate use of an upstream AUG translation initiation codon, and an in-frame downstream non-AUG (AUA) codon, results in 2 isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	probably damaging	Het

Other mutations in Tead3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Tead3	APN	17	28332806	missense	possibly damaging	0.91
IGL01752:Tead3	APN	17	28333594	missense	probably damaging	1.00
IGL01760:Tead3	APN	17	28333081	missense	probably benign	0.07
IGL02868:Tead3	APN	17	28333095	nonsense	probably null
IGL02932:Tead3	APN	17	28341351	missense	probably damaging	1.00
R0015:Tead3	UTSW	17	28341351	missense	probably damaging	1.00
R0376:Tead3	UTSW	17	28341365	missense	probably damaging	0.98
R0383:Tead3	UTSW	17	28334698	splice site	probably null
R1203:Tead3	UTSW	17	28341562	missense	probably benign	0.06
R1699:Tead3	UTSW	17	28334724	missense	possibly damaging	0.52
R2037:Tead3	UTSW	17	28336570	missense	probably damaging	0.98
R2148:Tead3	UTSW	17	28333664	missense	probably damaging	1.00
R4871:Tead3	UTSW	17	28333615	missense	probably damaging	1.00
R4871:Tead3	UTSW	17	28334988	missense	probably benign	0.42
R5070:Tead3	UTSW	17	28341477	missense	probably benign	0.06
R5557:Tead3	UTSW	17	28336270	intron	probably benign
R5891:Tead3	UTSW	17	28341365	missense	probably damaging	0.98
R5991:Tead3	UTSW	17	28334378	splice site	probably null
R6335:Tead3	UTSW	17	28333325	missense	probably damaging	1.00
R6999:Tead3	UTSW	17	28341532	missense	probably benign	0.00
R7165:Tead3	UTSW	17	28333254	missense	probably benign	0.00
R7718:Tead3	UTSW	17	28333517	missense	probably damaging	1.00
R7743:Tead3	UTSW	17	28332827	missense	probably benign	0.06
R8025:Tead3	UTSW	17	28335035	missense	probably benign	0.23
R8851:Tead3	UTSW	17	28332730	missense	probably damaging	0.97
R9245:Tead3	UTSW	17	28332735	missense	probably benign	0.34
R9262:Tead3	UTSW	17	28341521	missense	probably benign	0.01
X0066:Tead3	UTSW	17	28341427	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGCAGATGCTTCAGTTTG -3'
(R):5'- TGGGTGAGGCCTCTTCTAAC -3'

Sequencing Primer
(F):5'- GGATGAAATTGATCATGTACTCGCAC -3'
(R):5'- GAGGCCTCTTCTAACCCCAGATG -3'

Posted On

2020-01-23