Mutagenetix > Incidental Mutation

Incidental Mutation 'R2173:Tcf20'

237646

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

040175-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R2173 (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 82854692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 853 (S853P)

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: S853P

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S853P

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: S853P

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S853P

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

0.1298

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (66/68)

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
A930017K11Rik	A	C	17: 25,948,487	H25Q	probably damaging	Het
Alpk1	T	A	3: 127,683,590	H273L	probably damaging	Het
Alpk3	A	G	7: 81,076,900	Y111C	probably damaging	Het
Anapc2	T	G	2: 25,273,276	V175G	probably benign	Het
Arhgap30	T	C	1: 171,407,767	S570P	probably damaging	Het
AU040320	T	C	4: 126,792,276	L215P	probably benign	Het
Ccdc59	A	T	10: 105,841,527	K9M	possibly damaging	Het
Ccdc65	A	G	15: 98,721,033	N298D	probably benign	Het
Cfap70	T	A	14: 20,408,562	N727Y	probably benign	Het
Clcn7	A	G	17: 25,145,609	H63R	probably benign	Het
Corin	A	T	5: 72,504,079	C24S	probably benign	Het
Cyp1a2	A	G	9: 57,677,515	W419R	probably damaging	Het
Dlgap4	C	A	2: 156,762,812	A256D	probably damaging	Het
Eif4enif1	A	G	11: 3,242,367		probably null	Het
Eri2	A	G	7: 119,786,543	V245A	possibly damaging	Het
Erich6b	T	C	14: 75,658,892	F73L	probably benign	Het
Fam110a	A	G	2: 151,970,509	C114R	probably damaging	Het
Fam149a	T	C	8: 45,353,954	D288G	probably damaging	Het
Fam171a1	T	A	2: 3,225,619	Y596*	probably null	Het
Fsd1	A	G	17: 55,991,223	T183A	possibly damaging	Het
Fut10	T	A	8: 31,236,131	Y305N	probably damaging	Het
Ganab	A	T	19: 8,902,260		probably benign	Het
Gm9922	G	T	14: 101,729,576		probably benign	Het
Gp9	A	G	6: 87,779,053	T17A	probably benign	Het
Gxylt2	T	C	6: 100,798,154	Y345H	probably damaging	Het
Herc2	A	G	7: 56,185,951	H3269R	probably benign	Het
Hpx	A	T	7: 105,592,083	S374T	probably benign	Het
Hspa5	T	C	2: 34,774,662	V376A	probably damaging	Het
Hyi	T	C	4: 118,362,184		probably benign	Het
Impdh2	G	A	9: 108,565,394		probably null	Het
Kremen2	A	C	17: 23,742,796	W246G	probably damaging	Het
Krt83	A	G	15: 101,487,937	V259A	probably damaging	Het
L3mbtl4	A	T	17: 68,587,193	H398L	probably damaging	Het
Lama5	C	A	2: 180,196,242	V894L	probably benign	Het
Maml2	A	G	9: 13,621,616		probably benign	Het
Nup153	A	T	13: 46,701,600		probably benign	Het
Olfr1387	G	T	11: 49,460,140	V154L	probably benign	Het
Olfr177	A	G	16: 58,872,619	F177S	probably damaging	Het
Olfr824	G	A	10: 130,126,503	P185S	probably benign	Het
Olfr918	T	C	9: 38,672,944	I180V	probably benign	Het
Olfr981	T	G	9: 40,023,254	I287S	probably damaging	Het
Otof	C	T	5: 30,386,374	R582H	probably damaging	Het
Otud4	T	C	8: 79,668,464	S543P	probably damaging	Het
Pde6a	A	G	18: 61,254,382	D448G	probably damaging	Het
Phgdh	A	G	3: 98,315,111	V388A	probably benign	Het
Plin3	G	T	17: 56,279,891	D385E	possibly damaging	Het
Polg	G	T	7: 79,455,593	D734E	probably damaging	Het
Pomt1	T	C	2: 32,250,900	Y515H	probably damaging	Het
Pwwp2a	G	A	11: 43,682,486	A132T	probably benign	Het
Rbm6	A	T	9: 107,852,191	F419L	possibly damaging	Het
Rfx5	A	G	3: 94,956,716		probably null	Het
Rnf135	G	A	11: 80,189,240	S119N	probably benign	Het
Scfd1	T	A	12: 51,387,079	D51E	probably benign	Het
Smox	A	T	2: 131,512,024	E5D	possibly damaging	Het
Srpk2	T	C	5: 23,518,615		probably null	Het
Syne2	T	A	12: 76,100,989		probably benign	Het
Tmem131l	A	G	3: 83,926,145	F804L	probably damaging	Het
Ttll8	A	G	15: 88,914,597	L645P	probably damaging	Het
Ubr3	T	A	2: 69,897,399	H35Q	probably benign	Het
Uck1	GCCAACACC	GCC	2: 32,256,076		probably benign	Het
Vmn2r70	A	T	7: 85,565,082	H287Q	probably benign	Het
Vps26a	A	T	10: 62,468,392	I150N	probably damaging	Het
Zfp605	G	A	5: 110,127,457	R147H	probably benign	Het
Zfyve16	A	G	13: 92,495,088	M1333T	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
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
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'- CATGTGTCCCAATGAGTGAGCC -3'
(R):5'- AAGTGCTTCAGGGCTACCAC -3'

Sequencing Primer
(F):5'- AATGAGTGAGCCCCTGGG -3'
(R):5'- TCCTGACAGAAGGTATCCTAGAAGC -3'

Posted On

2014-10-02