Mutagenetix > Incidental Mutations

Incidental Mutation 'R8191:Tcf20'

635178

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R8191 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 82853405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1282 (R1282*)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably null
Transcript: ENSMUST00000048966
AA Change: R1282*

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: R1282*

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 null
Transcript: ENSMUST00000109510
AA Change: R1282*

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: R1282*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	G	T	16: 90,931,001	N100K	probably damaging	Het
1700037C18Rik	G	A	16: 3,907,054	R49W	probably damaging	Het
Adamts4	T	C	1: 171,252,723	S282P		Het
AI314180	A	T	4: 58,872,587		probably null	Het
Aqp4	A	G	18: 15,398,165	S180P	probably benign	Het
Armc2	T	G	10: 41,963,751	E406A	probably benign	Het
Atp13a3	A	T	16: 30,349,780	Y464N	probably damaging	Het
B3gnt3	C	A	8: 71,693,478	V136L	probably benign	Het
Cacna1s	C	T	1: 136,108,155	H1378Y	probably damaging	Het
Ccnk	A	T	12: 108,193,674	E138D	probably benign	Het
Cenpe	A	G	3: 135,251,614	K1878E	probably benign	Het
Cep57l1	T	A	10: 41,740,959	I111L	probably damaging	Het
Copg2	T	C	6: 30,813,730	I509V	probably benign	Het
Cux2	T	A	5: 121,874,154	D406V	probably benign	Het
Cyp2a12	G	T	7: 27,031,104	A165S	probably benign	Het
Dnaaf5	T	G	5: 139,181,495	S719A	probably benign	Het
Dnah7c	A	G	1: 46,607,458	I1220V	possibly damaging	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dusp10	T	A	1: 184,037,552	D238E	possibly damaging	Het
Dync1li1	C	A	9: 114,709,185	D203E	probably benign	Het
Eif5b	T	C	1: 38,036,202	S587P	probably damaging	Het
Ephb2	G	A	4: 136,658,945	T832I	probably damaging	Het
Exoc1	T	A	5: 76,559,827		probably null	Het
Fam193a	T	A	5: 34,440,573	N571K	probably damaging	Het
Fem1a	T	A	17: 56,258,356	I483N	probably damaging	Het
Fgf20	C	A	8: 40,308,320		probably benign	Het
Fkbp1a	C	T	2: 151,557,436	P98S		Het
Gm9833	G	T	3: 10,088,854	V228F	probably damaging	Het
Gpsm3	A	T	17: 34,590,477	D19V	probably benign	Het
Ido2	C	A	8: 24,533,680	G381W	probably damaging	Het
Ifi204	T	C	1: 173,751,660	T540A	possibly damaging	Het
Isl1	A	T	13: 116,305,418	M93K	probably benign	Het
Map3k10	T	A	7: 27,663,246	S472C	probably damaging	Het
Mcrs1	A	T	15: 99,243,325	V432E	probably damaging	Het
Metap2	A	G	10: 93,865,405		probably null	Het
Muc5b	A	G	7: 141,867,684	S4304G	probably benign	Het
Nell1	T	C	7: 50,448,874	V308A	unknown	Het
Olfr1511	A	G	14: 52,390,530	V81A	probably benign	Het
Olfr984	A	T	9: 40,101,471	H6Q	probably benign	Het
Plxna4	C	A	6: 32,516,950	V244F	possibly damaging	Het
Pnpla6	T	C	8: 3,542,382	S1224P	probably benign	Het
Ripk4	A	G	16: 97,763,526		probably benign	Het
Rnpep	T	C	1: 135,272,434	E261G	possibly damaging	Het
Robo1	C	A	16: 72,933,254	S194R	probably damaging	Het
Rpusd1	C	G	17: 25,728,637	Y99*	probably null	Het
Scarf1	T	C	11: 75,522,239	M437T	probably benign	Het
Sh3tc2	G	T	18: 61,973,358	D153Y	probably damaging	Het
Siglec1	T	C	2: 131,085,679	Y69C	probably damaging	Het
Slc25a34	T	C	4: 141,620,584	Y262C	probably damaging	Het
Srrm2	T	A	17: 23,820,245	N1954K	probably damaging	Het
St6galnac2	T	C	11: 116,681,922	Y236C	probably damaging	Het
Stac3	T	A	10: 127,508,199	I322N	probably damaging	Het
Tcaf1	T	C	6: 42,675,256	Q764R	probably damaging	Het
Tlr2	T	A	3: 83,836,514	K754M	probably damaging	Het
Tlr2	T	G	3: 83,836,515	K754Q	probably damaging	Het
Tnn	C	T	1: 160,125,518	V651M	probably damaging	Het
Ttn	T	C	2: 76,870,739	H9622R	unknown	Het
Tubgcp6	C	T	15: 89,120,640	G259S	probably damaging	Het
Ubr5	C	A	15: 38,006,507	C1174F		Het
Ugt2b35	T	A	5: 87,001,443	S184R	probably damaging	Het
Vit	C	T	17: 78,546,399	H25Y	probably benign	Het
Vmn1r177	G	A	7: 23,866,311	Q47*	probably null	Het
Vmn2r104	A	T	17: 20,030,203	V602D	possibly damaging	Het
Vmn2r115	A	G	17: 23,359,556	T668A	probably damaging	Het
Vmn2r125	T	G	4: 156,351,414	C362W	probably damaging	Het
Vwa7	A	G	17: 35,019,736	T267A	probably damaging	Het
Wdr63	G	T	3: 146,094,311	P158H	probably damaging	Het
Xpa	C	A	4: 46,183,225	R188L	possibly damaging	Het
Zfp143	C	T	7: 110,077,157	T249I	probably damaging	Het
Zfp607a	A	G	7: 27,879,443	E646G	possibly damaging	Het
Zfp729a	A	T	13: 67,621,719	S130R	probably benign	Het
Zswim3	C	A	2: 164,820,208	Q203K	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
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
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'- CTTGTCAGGGTAACAGCAGG -3'
(R):5'- CAAAAGCAGTGGTCCTCCAG -3'

Sequencing Primer
(F):5'- CAGCAGGACAGTTTCTATTGTC -3'
(R):5'- TCCAGGAATGTCTAATCAAAAACGG -3'

Posted On

2020-07-13