Mutagenetix > Incidental Mutations

Incidental Mutation 'R7583:Tcf20'

586920

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 #

R7583 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82855276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 658 (E658G)

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: E658G

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: E658G

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: E658G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: E658G

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

0.0737

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,739,326	D462V	probably damaging	Het
Abcc1	T	C	16: 14,404,038	W222R	probably damaging	Het
Adamts13	A	G	2: 26,973,953	K48E	probably benign	Het
Adgrd1	A	C	5: 129,179,588	T674P	probably benign	Het
Agbl4	A	T	4: 111,118,953	Y169F	possibly damaging	Het
Ahnak	T	A	19: 9,006,093	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,835,914		probably null	Het
Ap3d1	G	A	10: 80,709,458	T1053I	probably benign	Het
Atad2	T	C	15: 58,126,664	T139A	probably benign	Het
Bdp1	T	A	13: 100,049,812	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,833,790	I141V	probably damaging	Het
Cavin2	A	T	1: 51,289,618	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,779,754	H406R	probably benign	Het
Cd200r4	A	G	16: 44,833,421	T194A	probably damaging	Het
Cdt1	G	A	8: 122,570,256	R263H	probably damaging	Het
Cep85l	A	T	10: 53,281,354	I751N	probably damaging	Het
Clasp2	A	G	9: 113,908,687	D1043G	probably benign	Het
Cmip	A	T	8: 117,454,952	N578I	probably damaging	Het
Col2a1	T	G	15: 97,976,184	K1440N	unknown	Het
Cpne2	A	T	8: 94,555,581	M252L	probably benign	Het
Crb2	A	G	2: 37,790,595	T512A	probably benign	Het
Csmd1	A	G	8: 15,998,833	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,612,061	D642E	probably damaging	Het
Ctns	A	G	11: 73,188,470	S141P	probably benign	Het
Cwh43	A	G	5: 73,434,289	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,759,064	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,333,310	S849P	probably damaging	Het
Dnm3	T	A	1: 162,477,774	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,836,092	M1K	probably null	Het
Fam124a	T	A	14: 62,606,559	C505*	probably null	Het
Fam160b1	T	A	19: 57,378,602	D192E	probably benign	Het
Fsip2	A	G	2: 82,975,241	I635V	probably benign	Het
Gm5878	A	T	6: 85,118,700		probably null	Het
Gm6205	A	T	5: 94,682,894	T84S	possibly damaging	Het
Gpld1	C	A	13: 24,975,760	A437D	probably damaging	Het
Grk5	G	T	19: 61,083,204	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,235,615	L259Q	probably damaging	Het
Habp2	T	A	19: 56,311,804	D191E	probably benign	Het
Helz2	T	A	2: 181,237,572	H751L	probably benign	Het
Hgsnat	A	G	8: 25,971,564		probably null	Het
Hivep1	T	A	13: 42,164,240	V2064E	probably damaging	Het
Ikbke	C	T	1: 131,276,479	A26T	probably damaging	Het
Ivd	C	A	2: 118,862,131	D37E	probably damaging	Het
Kif26b	G	A	1: 178,530,445	W40*	probably null	Het
Klrc2	A	G	6: 129,659,311	S114P	probably damaging	Het
Lama1	A	T	17: 67,761,621	T772S		Het
Lamc1	T	A	1: 153,243,232	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,655,449	D12N		Het
Lpin2	G	T	17: 71,231,396	E384*	probably null	Het
Lrrc23	T	C	6: 124,779,578		probably benign	Het
Lrrc31	T	C	3: 30,691,099		probably null	Het
Luc7l2	A	G	6: 38,551,885	Q13R	probably damaging	Het
Ly6c1	G	T	15: 75,048,497	H5Q	probably damaging	Het
Lyst	A	T	13: 13,635,887	H714L	probably damaging	Het
Man2a2	C	T	7: 80,366,944	R374H	probably damaging	Het
Mchr1	A	T	15: 81,237,441	T131S	probably benign	Het
Msto1	T	C	3: 88,912,929		probably null	Het
Myh1	C	T	11: 67,220,913	T1698I	probably benign	Het
Ncapd3	G	T	9: 27,071,848	C964F	probably damaging	Het
Nefh	T	C	11: 4,941,089	E510G	probably damaging	Het
Olfr1246	A	T	2: 89,590,751	Y121*	probably null	Het
Olfr1513	T	C	14: 52,349,903	T48A	possibly damaging	Het
Olfr357	A	C	2: 36,997,080	K90T	probably damaging	Het
Olfr362	A	T	2: 37,105,527	L41*	probably null	Het
Olfr538	A	G	7: 140,574,210	E19G	probably benign	Het
P4ha1	T	A	10: 59,369,640	S497R	probably benign	Het
Palb2	T	C	7: 122,127,342	D435G	probably benign	Het
Papola	C	T	12: 105,811,045	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,682,324	R623G	probably damaging	Het
Pcolce	T	G	5: 137,607,445	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,568,364		probably null	Het
Ppp6r3	T	A	19: 3,490,790	T443S	probably benign	Het
Psg20	T	A	7: 18,682,483	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,308,405	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,902,114	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,930,875	S574P	probably benign	Het
Slc36a1	A	G	11: 55,213,928		probably null	Het
Slc9a5	A	G	8: 105,363,272	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,445,025		probably null	Het
Snx17	A	G	5: 31,196,533	N222D	possibly damaging	Het
Spata19	G	T	9: 27,400,433	S116I	possibly damaging	Het
Spn	G	A	7: 127,137,062	A91V	probably damaging	Het
Srrm3	T	C	5: 135,852,281	V145A	probably benign	Het
St7	A	T	6: 17,942,754	T575S	possibly damaging	Het
Taf2	A	T	15: 55,064,676	Y110*	probably null	Het
Tdrd6	G	T	17: 43,624,238	A1973E	probably benign	Het
Tg	T	G	15: 66,764,418	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,696,739	Y1882*	probably null	Het
Trim45	T	A	3: 100,925,023	C191S	probably damaging	Het
Upf3a	G	A	8: 13,785,889		probably null	Het
Vmn2r42	A	T	7: 8,194,741	L293*	probably null	Het
Vmn2r62	T	A	7: 42,788,042	Q339H	possibly damaging	Het
Wdr24	A	T	17: 25,825,830	R220W	probably null	Het
Wdr5	T	A	2: 27,518,775	S22T	probably benign	Het
Zfp37	G	A	4: 62,192,016		probably benign	Het
Zfp735	A	T	11: 73,711,107	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,583,489	C271*	probably null	Het
Zranb1	G	A	7: 132,983,896	R691Q	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
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
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'- ACTTCCAGGAGACTTGCTAGG -3'
(R):5'- TCAGTACCAGTCCTGCAACTAG -3'

Sequencing Primer
(F):5'- TGAAACTTGGGCCTACTGC -3'
(R):5'- AACTAGGGACGAAGCTGCCTC -3'

Posted On

2019-10-24