Mutagenetix > Incidental Mutations

Incidental Mutation 'R5219:Tcf20'

402243

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

042792-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R5219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82856381 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 290 (G290C)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: G290C

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

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: G290C

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: G290C

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

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: G290C

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

0.6554

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (68/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700063H04Rik	A	G	6: 122,392,340		noncoding transcript	Het
4933428M09Rik	G	T	X: 139,179,533	G16*	probably null	Het
9330182L06Rik	G	T	5: 9,461,486	W949C	probably damaging	Het
A2m	A	G	6: 121,676,950	H1414R	possibly damaging	Het
A530064D06Rik	G	T	17: 48,163,350	D154E	possibly damaging	Het
Adam34	C	T	8: 43,651,424	D395N	probably benign	Het
Agl	A	G	3: 116,778,721	V195A	possibly damaging	Het
Aip	T	C	19: 4,115,180	I230V	probably benign	Het
Akap10	A	C	11: 61,922,791	S43A	probably benign	Het
Ap3d1	T	C	10: 80,709,817	E1026G	probably benign	Het
Arid5b	T	A	10: 68,278,110	K32N	probably benign	Het
Atp6v0a2	C	A	5: 124,713,185	N477K	probably damaging	Het
Atr	A	C	9: 95,881,238	I1062L	probably damaging	Het
Ces2h	T	C	8: 105,016,646	V171A	probably damaging	Het
Cnot2	A	G	10: 116,506,310		probably null	Het
Cpne3	A	T	4: 19,526,366	L391H	probably damaging	Het
Ctdp1	A	G	18: 80,447,460	L715P	probably damaging	Het
Dcxr	T	C	11: 120,725,488		probably benign	Het
Dhtkd1	C	T	2: 5,914,816	A585T	probably benign	Het
Fcgbp	G	A	7: 28,104,085	A1705T	probably damaging	Het
Galr1	A	T	18: 82,393,985	V252D	probably damaging	Het
Gm11677	A	G	11: 111,725,399		noncoding transcript	Het
Gp6	A	G	7: 4,368,999	V252A	possibly damaging	Het
Inpp4b	T	C	8: 81,884,156	V176A	probably benign	Het
Irx2	G	C	13: 72,631,301	A235P	probably damaging	Het
Klk1b11	G	A	7: 43,999,696	C219Y	probably damaging	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lars	A	T	18: 42,234,720	V431E	probably benign	Het
Lmntd2	T	C	7: 141,211,474		probably null	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Ltbp4	A	T	7: 27,327,321	W500R	probably benign	Het
Mdn1	C	T	4: 32,723,690	P2542L	probably damaging	Het
Nadk	A	G	4: 155,584,254	I127M	probably benign	Het
Nxph1	T	A	6: 9,247,765	Y245*	probably null	Het
Olfr1246	C	T	2: 89,590,702	V138I	probably benign	Het
Olfr827	T	A	10: 130,210,924	T69S	possibly damaging	Het
Olfr831-ps1	T	C	9: 18,932,694		probably benign	Het
Olfr954	G	T	9: 39,462,267	V276L	probably benign	Het
Orc1	T	C	4: 108,590,769	F71S	probably damaging	Het
Pccb	A	T	9: 100,985,209	Y404*	probably null	Het
Pde2a	A	C	7: 101,504,604	I460L	probably damaging	Het
Ppp3cb	G	T	14: 20,528,195	C162*	probably null	Het
Prickle2	T	C	6: 92,376,530	S652G	probably benign	Het
Prss38	A	G	11: 59,375,483		probably benign	Het
Rcor3	T	A	1: 192,137,513		probably benign	Het
Rgp1	C	T	4: 43,579,440	A16V	probably damaging	Het
Rptor	G	A	11: 119,843,713	G514D	probably damaging	Het
Scnn1g	T	A	7: 121,766,266	Y514N	probably damaging	Het
Sephs1	A	G	2: 4,891,690	D134G	probably benign	Het
Slc38a3	A	G	9: 107,651,912		probably benign	Het
Slc6a1	A	T	6: 114,310,221	M388L	probably benign	Het
Ssbp3	A	T	4: 107,047,458	N350I	probably damaging	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Sult1e1	A	T	5: 87,578,586	I223N	probably damaging	Het
Tekt2	G	T	4: 126,322,264	T412K	possibly damaging	Het
Trabd2b	A	G	4: 114,602,810	T382A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ubr4	C	A	4: 139,477,232	Y4818*	probably null	Het
Vmn1r204	A	T	13: 22,556,899	R233S	probably damaging	Het
Vmn1r86	A	G	7: 13,102,455	Y165H	probably damaging	Het
Yaf2	A	C	15: 93,285,474	C152G	probably benign	Het
Zfp804b	A	T	5: 6,770,703	F751I	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
R5164:Tcf20	UTSW	15	82856603	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82856185	missense	probably damaging	0.98
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
R8090:Tcf20	UTSW	15	82856006	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82852937	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82853405	nonsense	probably null
R8259:Tcf20	UTSW	15	82852273	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82852676	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82853236	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82855951	missense	probably benign	0.07
R8728:Tcf20	UTSW	15	82854957	missense	probably damaging	1.00
R8829:Tcf20	UTSW	15	82855714	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82852525	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82852696	missense	probably benign	0.11
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCAGCATTTGTGTACTGCATC -3'
(R):5'- GCCATCTTCTGCTGGTTATCAG -3'

Sequencing Primer
(F):5'- CAGCATTTGTGTACTGCATCACATG -3'
(R):5'- CAGTTAAGAGTAGGTCAGTTTGGAC -3'

Posted On

2016-07-22