Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02731:Tcf20'

305470

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

IGL02731

Quality Score

Status

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82853237 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1338 (S1338P)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229439] [ENSMUST00000229547] [ENSMUST00000230403]

Predicted Effect

probably benign
Transcript: ENSMUST00000048966
AA Change: S1338P

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

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S1338P

Domain	Start	End	E-Value	Type
low complexity region	42	74	N/A	INTRINSIC
coiled coil region	163	203	N/A	INTRINSIC
low complexity region	248	277	N/A	INTRINSIC
low complexity region	322	354	N/A	INTRINSIC
low complexity region	396	416	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
low complexity region	684	715	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC
low complexity region	1532	1544	N/A	INTRINSIC
low complexity region	1577	1593	N/A	INTRINSIC
low complexity region	1602	1617	N/A	INTRINSIC
low complexity region	1793	1804	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
PHD	1913	1960	6.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109510
AA Change: S1338P

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

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S1338P

Domain	Start	End	E-Value	Type
low complexity region	42	74	N/A	INTRINSIC
coiled coil region	163	203	N/A	INTRINSIC
low complexity region	248	277	N/A	INTRINSIC
low complexity region	322	354	N/A	INTRINSIC
low complexity region	396	416	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
low complexity region	684	715	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC
low complexity region	1532	1544	N/A	INTRINSIC
low complexity region	1577	1593	N/A	INTRINSIC
low complexity region	1602	1617	N/A	INTRINSIC
low complexity region	1793	1804	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
PHD	1913	1960	6.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229439

Predicted Effect

probably benign
Transcript: ENSMUST00000229547

Predicted Effect

probably benign
Transcript: ENSMUST00000230403

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 transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap10	A	T	11: 61,893,476	D515E	possibly damaging	Het
Ankrd13b	A	T	11: 77,476,219	S9R	probably damaging	Het
Ano9	G	A	7: 141,107,204	A374V	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cep78	T	A	19: 15,956,306	H636L	probably benign	Het
Chd2	A	G	7: 73,493,456	V563A	probably damaging	Het
Cndp1	G	T	18: 84,631,958	D203E	probably damaging	Het
Col16a1	G	A	4: 130,053,530		probably benign	Het
Copa	T	C	1: 172,102,218	V284A	possibly damaging	Het
Dlec1	A	G	9: 119,147,120	T1656A	probably benign	Het
Dopey1	T	C	9: 86,487,381	I89T	probably damaging	Het
Eif2ak4	T	C	2: 118,388,814	S36P	probably benign	Het
Ep300	A	T	15: 81,648,414	I1618F	unknown	Het
Fan1	G	A	7: 64,372,993	L171F	possibly damaging	Het
Fancm	A	G	12: 65,088,305	T291A	probably benign	Het
Gm14325	T	C	2: 177,832,986	K101R	probably damaging	Het
Hmx3	A	T	7: 131,543,963		probably null	Het
Htt	G	T	5: 34,803,793	V255L	probably benign	Het
L3mbtl3	C	T	10: 26,344,176		probably null	Het
Lmbr1l	A	G	15: 98,917,896	L9P	probably damaging	Het
Lyzl6	A	T	11: 103,635,077	Y72*	probably null	Het
Mib1	A	G	18: 10,800,115	E818G	possibly damaging	Het
Neb	T	C	2: 52,160,703	T6405A	probably damaging	Het
Npas3	A	G	12: 54,067,795	D482G	probably benign	Het
Nuak2	C	A	1: 132,316,357	A43E	probably damaging	Het
Olfr1123	G	A	2: 87,418,707	V220I	probably benign	Het
Olfr1242	T	C	2: 89,493,457	Y285C	probably damaging	Het
Olfr1289	A	T	2: 111,483,528	I33L	probably benign	Het
Olfr1434	T	C	19: 12,283,842	S265P	probably damaging	Het
Pde11a	C	A	2: 75,991,239	A899S	probably benign	Het
Ppfibp2	A	T	7: 107,746,422	I884F	possibly damaging	Het
Pus7l	A	G	15: 94,523,464	V655A	probably benign	Het
Rad51ap2	A	G	12: 11,456,896	D273G	probably damaging	Het
Rc3h2	T	C	2: 37,382,811	D751G	probably benign	Het
Sdk1	C	T	5: 142,172,544	A1863V	probably damaging	Het
Spns3	T	C	11: 72,529,577	Y361C	probably damaging	Het
Srp72	T	A	5: 76,994,215	I372N	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tcte1	G	A	17: 45,539,886	V363I	probably benign	Het
Vmn1r42	T	C	6: 89,845,425	K54R	probably benign	Het
Vps13b	A	G	15: 35,917,128	N3706S	probably benign	Het
Vwde	T	C	6: 13,192,614	Y430C	probably damaging	Het
Wdr55	A	G	18: 36,763,382	E375G	probably benign	Het
Zfp959	G	A	17: 55,895,956		probably benign	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82854895	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82857142	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82852756	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82856075	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82853900	missense	probably benign
IGL01670:Tcf20	APN	15	82855363	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82857160	missense	probably damaging	1.00
IGL01767:Tcf20	APN	15	82856008	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82852966	missense	probably benign
IGL01834:Tcf20	APN	15	82855697	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82855155	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82853459	missense	probably benign	0.28
IGL02739:Tcf20	APN	15	82856080	missense	probably damaging	1.00
IGL03058:Tcf20	APN	15	82852004	missense	probably damaging	0.96
PIT4131001:Tcf20	UTSW	15	82851584	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82852300	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82855085	missense	probably benign
R0732:Tcf20	UTSW	15	82852303	missense	probably benign	0.07
R1502:Tcf20	UTSW	15	82855576	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82855492	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82852777	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82857230	nonsense	probably null
R2152:Tcf20	UTSW	15	82855602	missense	probably damaging	1.00
R2173:Tcf20	UTSW	15	82854692	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82851685	missense	probably benign
R4049:Tcf20	UTSW	15	82853429	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82854984	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82851727	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82854199	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82856603	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82856185	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82856381	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82855955	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82855709	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82851957	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82856199	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82853242	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82851783	nonsense	probably null
R6089:Tcf20	UTSW	15	82853208	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82851986	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82854880	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82852660	missense	probably benign
R6688:Tcf20	UTSW	15	82854535	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82854682	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82856078	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82853489	missense	probably benign
R7486:Tcf20	UTSW	15	82853734	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82855276	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82851565	missense	possibly damaging	0.92
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Posted On

2015-04-16