Mutagenetix > Incidental Mutations

Incidental Mutation 'R5164:Tcf20'

395615

Institutional Source

Beutler Lab

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

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

MMRRC Submission

042745-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.668) question?

Stock #

R5164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82856603 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 216 (S216P)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: S216P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S216P

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 damaging
Transcript: ENSMUST00000109510
AA Change: S216P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S216P

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

Meta Mutation Damage Score

0.1359

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (49/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,435,674	H4637Q	probably benign	Het
Akap6	A	G	12: 53,142,466	H2221R	probably benign	Het
Arsj	A	T	3: 126,438,159	M185L	probably benign	Het
Ccdc177	T	C	12: 80,758,562	T313A	unknown	Het
Cdkal1	A	T	13: 29,625,719	L214H	probably damaging	Het
Cfap44	T	A	16: 44,481,389	I1830N	probably damaging	Het
Cfap65	T	C	1: 74,926,516	K445R	probably damaging	Het
Chrnb3	T	A	8: 27,394,132	I299N	probably damaging	Het
Cse1l	C	A	2: 166,944,428	D826E	probably benign	Het
Cwf19l2	T	C	9: 3,475,511	V816A	probably damaging	Het
Dnah5	A	T	15: 28,408,292	E3474D	probably benign	Het
Dock5	A	T	14: 67,817,661	Y585*	probably null	Het
Ebf2	T	C	14: 67,390,521	S322P	possibly damaging	Het
Epha8	T	C	4: 136,945,672	E267G	possibly damaging	Het
Fam126b	T	C	1: 58,535,438	T315A	probably benign	Het
Fkbp5	A	G	17: 28,437,990		probably null	Het
Gbp4	T	A	5: 105,136,877	K49*	probably null	Het
Gm13212	T	C	4: 145,622,205	Y71H	probably damaging	Het
Gramd4	A	T	15: 86,100,831	T98S	probably benign	Het
H2-Ke6	A	G	17: 34,026,978		probably benign	Het
Hectd1	C	A	12: 51,827,489	M1I	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Keg1	A	G	19: 12,714,680		probably benign	Het
Lilra6	A	T	7: 3,914,881	V88E	probably damaging	Het
Mast1	A	G	8: 84,913,518		probably benign	Het
Mdn1	A	G	4: 32,759,011		probably null	Het
Nrd1	C	T	4: 109,039,717	T511I	probably damaging	Het
Olfr1058	T	C	2: 86,385,471	T316A	probably benign	Het
Olfr1204	T	A	2: 88,852,570	L207I	probably benign	Het
Olfr478	G	A	7: 108,032,280	T21I	possibly damaging	Het
Pms1	A	G	1: 53,207,640	V301A	probably damaging	Het
Pnisr	A	T	4: 21,859,237	Q144L	possibly damaging	Het
Pp2d1	G	T	17: 53,508,070	T542K	probably benign	Het
Ppargc1b	A	T	18: 61,302,644	C922S	probably damaging	Het
Ptprd	T	C	4: 76,100,758		probably null	Het
Runx3	T	C	4: 135,121,130	S9P	possibly damaging	Het
Serpina1b	A	G	12: 103,732,087	S168P	probably benign	Het
Slc14a2	G	A	18: 78,157,272	A722V	probably damaging	Het
Slc23a2	T	A	2: 132,075,450		probably benign	Het
Slc47a1	A	G	11: 61,353,060		probably null	Het
Tpst1	T	A	5: 130,102,001	I104N	probably damaging	Het
Ttc25	G	A	11: 100,571,520	W506*	probably null	Het
Ufm1	A	C	3: 53,857,927		probably benign	Het
Unkl	A	G	17: 25,213,109		probably null	Het
Usf3	T	C	16: 44,218,180	S1008P	probably damaging	Het
Ythdf3	T	C	3: 16,183,513	V6A	possibly damaging	Het
Zc3h3	A	T	15: 75,777,026	S752R	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
IGL02731:Tcf20	APN	15	82853237	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATTAGAACCCACATTATGCC -3'
(R):5'- TCCTGGGAGTGCTCAGTATC -3'

Sequencing Primer
(F):5'- TGAGATCCAGCATTCACACTG -3'
(R):5'- CCTGGGAGTGCTCAGTATCAACAG -3'

Posted On

2016-06-21