Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Tcf20'

305796

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82856080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 390 (Q390L)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: Q390L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: Q390L

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 damaging
Transcript: ENSMUST00000109510
AA Change: Q390L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: Q390L

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517 (GRCm38)	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156 (GRCm38)	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012 (GRCm38)		probably null	Het
Bsn	A	T	9: 108,112,546 (GRCm38)	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250 (GRCm38)	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780 (GRCm38)		probably null	Het
Ctsr	T	C	13: 61,161,844 (GRCm38)	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519 (GRCm38)	L11P	unknown	Het
Dock8	A	G	19: 25,188,488 (GRCm38)	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728 (GRCm38)	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282 (GRCm38)	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494 (GRCm38)	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055 (GRCm38)		probably benign	Het
Gh	T	A	11: 106,301,733 (GRCm38)		probably benign	Het
Kif20a	A	T	18: 34,628,943 (GRCm38)	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215 (GRCm38)	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851 (GRCm38)	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307 (GRCm38)		probably null	Het
Nr2c1	T	A	10: 94,156,972 (GRCm38)	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900 (GRCm38)	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314 (GRCm38)	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694 (GRCm38)	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950 (GRCm38)	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509 (GRCm38)		probably null	Het
Ppp1r42	T	A	1: 9,968,853 (GRCm38)	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585 (GRCm38)	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754 (GRCm38)	S194*	probably null	Het
Rnf214	T	C	9: 45,869,474 (GRCm38)	I406V	probably benign	Het
Rreb1	C	T	13: 37,893,821 (GRCm38)	S3L	probably damaging	Het
Sdad1	C	T	5: 92,290,072 (GRCm38)	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161 (GRCm38)	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033 (GRCm38)	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398 (GRCm38)	T175A	probably damaging	Het
Tex15	A	G	8: 33,581,693 (GRCm38)	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126 (GRCm38)	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537 (GRCm38)	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129 (GRCm38)	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900 (GRCm38)	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460 (GRCm38)	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526 (GRCm38)	E83A	probably damaging	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82,854,895 (GRCm38)	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82,857,142 (GRCm38)	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82,852,756 (GRCm38)	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82,856,075 (GRCm38)	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82,853,900 (GRCm38)	missense	probably benign
IGL01670:Tcf20	APN	15	82,855,363 (GRCm38)	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82,857,160 (GRCm38)	missense	probably damaging	1.00
IGL01767:Tcf20	APN	15	82,856,008 (GRCm38)	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82,852,966 (GRCm38)	missense	probably benign
IGL01834:Tcf20	APN	15	82,855,697 (GRCm38)	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82,855,155 (GRCm38)	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82,853,459 (GRCm38)	missense	probably benign	0.28
IGL02731:Tcf20	APN	15	82,853,237 (GRCm38)	missense	probably benign	0.00
IGL03058:Tcf20	APN	15	82,852,004 (GRCm38)	missense	probably damaging	0.96
PIT4131001:Tcf20	UTSW	15	82,851,584 (GRCm38)	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82,852,300 (GRCm38)	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82,855,085 (GRCm38)	missense	probably benign
R0732:Tcf20	UTSW	15	82,852,303 (GRCm38)	missense	probably benign	0.07
R1502:Tcf20	UTSW	15	82,855,576 (GRCm38)	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82,855,492 (GRCm38)	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82,852,777 (GRCm38)	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82,857,230 (GRCm38)	nonsense	probably null
R2152:Tcf20	UTSW	15	82,855,602 (GRCm38)	missense	probably damaging	1.00
R2173:Tcf20	UTSW	15	82,854,692 (GRCm38)	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82,851,685 (GRCm38)	missense	probably benign
R4049:Tcf20	UTSW	15	82,853,429 (GRCm38)	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82,854,984 (GRCm38)	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82,851,727 (GRCm38)	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82,854,199 (GRCm38)	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82,856,603 (GRCm38)	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82,856,185 (GRCm38)	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82,856,381 (GRCm38)	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82,855,955 (GRCm38)	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82,855,709 (GRCm38)	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82,851,957 (GRCm38)	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82,856,199 (GRCm38)	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82,853,242 (GRCm38)	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82,851,783 (GRCm38)	nonsense	probably null
R6089:Tcf20	UTSW	15	82,853,208 (GRCm38)	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82,851,986 (GRCm38)	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82,854,880 (GRCm38)	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82,852,660 (GRCm38)	missense	probably benign
R6688:Tcf20	UTSW	15	82,854,535 (GRCm38)	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82,854,682 (GRCm38)	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82,856,078 (GRCm38)	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82,853,489 (GRCm38)	missense	probably benign
R7486:Tcf20	UTSW	15	82,853,734 (GRCm38)	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82,855,276 (GRCm38)	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82,851,565 (GRCm38)	missense	possibly damaging	0.92
R8090:Tcf20	UTSW	15	82,856,006 (GRCm38)	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82,852,937 (GRCm38)	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82,853,405 (GRCm38)	nonsense	probably null
R8259:Tcf20	UTSW	15	82,852,273 (GRCm38)	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82,852,676 (GRCm38)	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82,853,236 (GRCm38)	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82,855,951 (GRCm38)	missense	probably benign	0.07
R8728:Tcf20	UTSW	15	82,854,957 (GRCm38)	missense	probably damaging	1.00
R8829:Tcf20	UTSW	15	82,855,714 (GRCm38)	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82,852,525 (GRCm38)	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82,856,504 (GRCm38)	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82,856,504 (GRCm38)	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82,852,696 (GRCm38)	missense	probably benign	0.11
R9648:Tcf20	UTSW	15	82,855,675 (GRCm38)	missense	probably damaging	1.00
R9675:Tcf20	UTSW	15	82,856,785 (GRCm38)	missense	probably damaging	1.00
R9729:Tcf20	UTSW	15	82,851,836 (GRCm38)	missense	probably benign	0.25
RF019:Tcf20	UTSW	15	82,851,593 (GRCm38)	missense	probably benign	0.00

Posted On

2015-04-16