Mutagenetix > Incidental Mutation

Incidental Mutation 'R7486:Tcf20'

580201

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

045560-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

R7486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82853734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1172 (M1172K)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048966
AA Change: M1172K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: M1172K

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

possibly damaging
Transcript: ENSMUST00000109510
AA Change: M1172K

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: M1172K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam21	T	C	12: 81,558,883	I702V	probably benign	Het
Adgre5	T	C	8: 83,723,886	E815G	probably damaging	Het
Adgrl2	A	G	3: 148,817,694	V298A		Het
Akp3	A	G	1: 87,125,479	D91G	probably damaging	Het
Ano8	A	G	8: 71,484,998		probably null	Het
Blvra	T	C	2: 127,087,323	S136P	unknown	Het
Cacul1	T	A	19: 60,580,430	M97L	probably benign	Het
Ccdc80	T	C	16: 45,126,179	V827A	probably damaging	Het
Cep68	T	C	11: 20,242,166	E11G	probably benign	Het
Cfap221	A	T	1: 119,923,592	V813E	possibly damaging	Het
Chd6	A	G	2: 160,950,003	V2478A	probably damaging	Het
Chmp6	T	C	11: 119,916,957	F148S	probably benign	Het
Clca3a2	T	A	3: 144,797,601	I863F	probably damaging	Het
Cnnm2	T	C	19: 46,762,074	V101A	possibly damaging	Het
Cpne8	A	T	15: 90,515,906		probably null	Het
Dmbt1	T	G	7: 131,066,462	C483G	unknown	Het
Dnah7b	G	A	1: 46,290,734	G3246D	probably damaging	Het
Dnajc3	C	A	14: 118,972,404	T297K	probably benign	Het
Dpm3	A	G	3: 89,266,727		probably null	Het
Eef2k	A	G	7: 120,858,570	N51D	probably benign	Het
Erc1	G	A	6: 119,594,946	Q1022*	probably null	Het
Ercc5	T	A	1: 44,148,064	M1K	probably null	Het
Fam114a2	C	T	11: 57,513,689	G83D	probably damaging	Het
Fat4	C	A	3: 38,957,427	Y2225*	probably null	Het
Frk	G	A	10: 34,547,296	W123*	probably null	Het
Gm11568	T	A	11: 99,858,466	C166S	unknown	Het
Gm12666	A	T	4: 92,191,269	V105E	probably benign	Het
Gpr153	A	G	4: 152,282,401	D337G	probably benign	Het
Gpt2	T	C	8: 85,525,606	F517L	probably damaging	Het
Gsg1	C	T	6: 135,237,429	E361K	probably benign	Het
Hsfy2	G	A	1: 56,636,971	R136*	probably null	Het
Insm1	G	A	2: 146,223,818	R518H	probably damaging	Het
Kank1	G	A	19: 25,410,829	C622Y	probably damaging	Het
Katnb1	T	A	8: 95,098,729	S640R	probably damaging	Het
Kcnmb4	A	G	10: 116,418,275	V199A	probably benign	Het
Lamb1	T	G	12: 31,287,442	S391A	probably benign	Het
Macf1	T	G	4: 123,409,581	D376A	probably benign	Het
Map7d1	C	A	4: 126,234,386	R614L	unknown	Het
Mcm8	C	T	2: 132,839,520	R667W	probably damaging	Het
Med13l	C	T	5: 118,728,474	T531I	probably benign	Het
Mstn	G	T	1: 53,063,969	A155S	probably damaging	Het
Mycbp2	C	T	14: 103,197,254	R2251K	probably damaging	Het
Myo19	T	C	11: 84,905,637	S692P	probably benign	Het
Nipbl	A	T	15: 8,295,636	N2514K	probably benign	Het
Nkd2	T	A	13: 73,847,442		probably benign	Het
Nox3	T	A	17: 3,669,944	Y322F	probably damaging	Het
Nt5dc1	A	G	10: 34,399,809	Y135H	probably benign	Het
Olfr389	T	C	11: 73,777,021	Y102C	probably damaging	Het
Olfr533	C	T	7: 140,466,034		probably benign	Het
Olfr979	T	A	9: 40,000,885	Y114F	probably benign	Het
Oog3	T	A	4: 144,158,172	H398L	probably benign	Het
Otogl	A	G	10: 107,821,988	L1027P	probably damaging	Het
Pcdh20	T	A	14: 88,468,614	I417F	possibly damaging	Het
Pcdha12	T	A	18: 37,021,557	V443E	probably damaging	Het
Pcdhga2	A	G	18: 37,670,408	D435G	probably benign	Het
Pcnt	G	T	10: 76,418,436	T853K	probably benign	Het
Pcnt	T	C	10: 76,418,437	T853A	probably benign	Het
Pgghg	T	A	7: 140,942,480	S57R	probably benign	Het
Ppm1m	T	C	9: 106,196,611	D301G	probably damaging	Het
Ppp6r1	A	G	7: 4,639,900	V519A	probably benign	Het
Prss41	ACAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCA	17: 23,844,098		probably benign	Het
Rasa3	C	T	8: 13,590,201		probably null	Het
Robo4	T	C	9: 37,405,574	V395A	probably damaging	Het
Scrib	A	G	15: 76,057,650	S1123P	probably damaging	Het
Setd1b	A	G	5: 123,163,592	K45E	probably benign	Het
Slc14a1	T	C	18: 78,111,524	S216G	probably benign	Het
Slc25a45	A	G	19: 5,884,969	Y282C	probably damaging	Het
Slc6a5	T	C	7: 49,917,330	S255P	possibly damaging	Het
Smc2	A	T	4: 52,462,861	Q617L	possibly damaging	Het
Spo11	G	A	2: 172,984,077	D103N	probably benign	Het
Tesc	T	A	5: 118,046,317	S21T	probably benign	Het
Tie1	C	A	4: 118,479,904		probably null	Het
Trim24	T	G	6: 37,957,839		probably null	Het
Trpm7	A	G	2: 126,831,195		probably null	Het
Unc13d	T	C	11: 116,074,433	D193G	possibly damaging	Het
Upk3a	A	T	15: 85,018,024		probably null	Het
Vmn2r25	T	C	6: 123,823,142	N747S	probably damaging	Het
Wipf1	GCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCC	2: 73,440,074		probably benign	Het
Zbtb2	G	A	10: 4,369,025	Q334*	probably null	Het
Zfp653	T	C	9: 22,056,528	N494D	probably damaging	Het
Zfp865	A	G	7: 5,031,260	D748G	possibly damaging	Het
Zzef1	T	C	11: 72,864,786	S1014P	possibly damaging	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
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
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
R9648:Tcf20	UTSW	15	82855675	missense	probably damaging	1.00
R9675:Tcf20	UTSW	15	82856785	missense	probably damaging	1.00
R9729:Tcf20	UTSW	15	82851836	missense	probably benign	0.25
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACATTCCTGGAGGACCAC -3'
(R):5'- GGGACCCTAATACCGGTTTG -3'

Sequencing Primer
(F):5'- AGGACCACTGCTTTTGGC -3'
(R):5'- GGGACCCTAATACCGGTTTGAATTC -3'

Posted On

2019-10-07