Mutagenetix > Incidental Mutation

Incidental Mutation 'R6089:Tcf20'

484686

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

044246-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R6089 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 82853208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1347 (D1347E)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000048966
AA Change: D1347E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: D1347E

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: D1347E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: D1347E

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	G	7: 118,746,435	S59A	possibly damaging	Het
A830010M20Rik	C	T	5: 107,507,029	A386V	probably damaging	Het
Actr3	A	G	1: 125,407,395	V95A	probably damaging	Het
Ankrd40	A	T	11: 94,333,925	K53N	probably damaging	Het
Ash1l	C	T	3: 89,053,143	Q2338*	probably null	Het
Astn2	A	G	4: 65,794,573	F610S	probably damaging	Het
Baz2a	TCTCCTC	TCTC	10: 128,114,642		probably benign	Het
Calm4	A	T	13: 3,837,874		probably benign	Het
Card10	T	C	15: 78,802,414	T68A	probably benign	Het
Cars2	A	G	8: 11,530,301	M245T	probably damaging	Het
Cat	C	A	2: 103,472,951	L160F	probably null	Het
Cers5	G	T	15: 99,741,002	T144K	probably benign	Het
Cyp3a13	T	A	5: 137,909,953	L211F	probably benign	Het
Defb4	A	T	8: 19,201,305	R63*	probably null	Het
Dnah14	G	T	1: 181,750,154	W3012L	probably damaging	Het
Dusp18	A	G	11: 3,897,555	T182A	probably benign	Het
Dzip1l	C	A	9: 99,642,684	T286K	possibly damaging	Het
Eif2ak3	A	T	6: 70,896,934	T944S	possibly damaging	Het
Fbn1	A	T	2: 125,321,225	I2119N	possibly damaging	Het
Gabbr2	A	G	4: 46,846,448	S154P	probably damaging	Het
Gm15440	A	T	13: 51,691,401	H107Q	unknown	Het
Grm2	G	A	9: 106,653,891	P133L	probably damaging	Het
Gsdme	A	G	6: 50,251,305	V61A	probably damaging	Het
Gtpbp1	A	G	15: 79,706,997	T23A	probably benign	Het
Helz	A	T	11: 107,595,137		probably null	Het
Herc1	A	C	9: 66,445,532	H2100P	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Ifngr1	T	C	10: 19,606,300	S213P	probably benign	Het
Itgb7	T	C	15: 102,217,286	D636G	probably benign	Het
Mre11a	G	A	9: 14,819,464	D491N	probably benign	Het
Muc16	A	G	9: 18,643,252	L3915P	unknown	Het
Myh1	T	A	11: 67,202,167		probably null	Het
Myh1	T	G	11: 67,220,787		probably null	Het
Myh7b	C	T	2: 155,622,489	T608M	probably damaging	Het
Myof	T	C	19: 37,967,060	K23E	probably benign	Het
Nacad	A	G	11: 6,601,331	V620A	probably benign	Het
Pbrm1	T	C	14: 31,087,585	Y1121H	probably damaging	Het
Pcdha9	T	C	18: 36,998,498	F207L	probably benign	Het
Pcdhb10	T	C	18: 37,413,626	V585A	possibly damaging	Het
Pigg	A	T	5: 108,341,922	M798L	probably benign	Het
Poc5	G	T	13: 96,396,671	M102I	probably damaging	Het
Ppp2r3a	T	A	9: 101,211,636	Q496L	probably benign	Het
Ptprf	A	G	4: 118,211,084	Y1752H	probably damaging	Het
Ptpru	G	C	4: 131,772,630	S1244R	possibly damaging	Het
Rnf213	A	G	11: 119,416,559	K682E	probably benign	Het
Rtp3	T	C	9: 110,986,973	D170G	probably benign	Het
Sall4	T	C	2: 168,755,486	D478G	possibly damaging	Het
Scai	A	T	2: 39,083,554	Y58*	probably null	Het
Simc1	G	A	13: 54,528,490	V1007M	probably benign	Het
Tdo2	T	C	3: 81,962,728	Y279C	probably damaging	Het
Trdn	C	T	10: 33,464,575	P602S	probably benign	Het
Txndc5	A	T	13: 38,523,416	M1K	probably null	Het
Ubr2	A	C	17: 46,982,292	M356R	possibly damaging	Het
Uqcrc2	A	T	7: 120,654,009	D332V	probably damaging	Het
Usp48	T	C	4: 137,605,818	F108L	probably damaging	Het
Vill	A	G	9: 119,057,799	N4S	probably benign	Het
Vmn1r11	T	C	6: 57,137,660	V103A	possibly damaging	Het
Vmn2r98	A	G	17: 19,066,074	D278G	probably benign	Het
Wfdc15a	A	T	2: 164,199,666	L79*	probably null	Het
Xxylt1	C	T	16: 31,080,981	V119M	probably damaging	Het
Zfp26	G	T	9: 20,437,693	A525D	probably damaging	Het
Zgrf1	G	A	3: 127,595,993	G396D	probably damaging	Het
Zkscan16	A	G	4: 58,948,889	D148G	possibly damaging	Het
Zscan26	G	T	13: 21,448,329	S77R	probably 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
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
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'- ATCCAGTGTGACTGTGTCTCC -3'
(R):5'- TTTAATCATGCGAAGGCGGG -3'

Sequencing Primer
(F):5'- GTGTGACTGTGTCTCCCCCAG -3'
(R):5'- CGAAGGCGGGTTCGTTC -3'

Posted On

2017-08-16