Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01684:Tcf20'

103883

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 #

IGL01684

Quality Score

Status

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82857160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 30 (F30S)

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: F30S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: F30S

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: F30S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: F30S

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: ENSMUST00000229439
AA Change: F30S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229547
AA Change: F30S

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230403
AA Change: F30S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ammecr1l	G	T	18: 31,771,768 (GRCm38)	V21F	probably damaging	Het
Aox1	G	A	1: 58,077,581 (GRCm38)		probably null	Het
BC024139	A	G	15: 76,124,685 (GRCm38)	L283P	probably damaging	Het
Cacna1h	C	T	17: 25,388,716 (GRCm38)	G876S	probably damaging	Het
Ccdc66	T	C	14: 27,500,249 (GRCm38)	E179G	possibly damaging	Het
Ckap5	T	G	2: 91,555,354 (GRCm38)	D182E	probably benign	Het
Clk1	A	G	1: 58,417,265 (GRCm38)		probably null	Het
Dhx34	G	A	7: 16,203,279 (GRCm38)	T831M	probably damaging	Het
Enox1	T	C	14: 77,579,093 (GRCm38)	I171T	possibly damaging	Het
Fscn2	G	A	11: 120,367,305 (GRCm38)	R351H	probably damaging	Het
Gabbr2	G	A	4: 46,736,501 (GRCm38)	S460L	probably benign	Het
Gramd1a	A	G	7: 31,138,905 (GRCm38)	S308P	possibly damaging	Het
Guca1a	T	C	17: 47,395,143 (GRCm38)	D137G	probably null	Het
Heatr5a	G	A	12: 51,955,511 (GRCm38)	T214I	probably benign	Het
Klf7	T	C	1: 64,120,892 (GRCm38)		probably benign	Het
Macf1	A	G	4: 123,465,930 (GRCm38)	S1854P	probably damaging	Het
Mau2	A	T	8: 70,029,245 (GRCm38)		probably benign	Het
Mdn1	A	G	4: 32,726,857 (GRCm38)	I2639V	probably benign	Het
Mylk	A	G	16: 34,971,940 (GRCm38)	M1544V	possibly damaging	Het
Ogdh	G	T	11: 6,342,546 (GRCm38)	V420L	probably damaging	Het
Olfr1458	A	G	19: 13,102,989 (GRCm38)	F105S	possibly damaging	Het
Olfr532	T	C	7: 140,418,915 (GRCm38)	N286S	probably damaging	Het
Pcm1	A	G	8: 41,257,923 (GRCm38)	T77A	probably benign	Het
Piezo2	T	A	18: 63,083,170 (GRCm38)	I947F	probably damaging	Het
Prrc2c	A	T	1: 162,706,462 (GRCm38)		probably benign	Het
Ptch2	A	G	4: 117,104,787 (GRCm38)	E107G	probably damaging	Het
Rmdn3	T	C	2: 119,147,574 (GRCm38)	E182G	probably damaging	Het
Rpl23a-ps3	C	T	14: 34,170,788 (GRCm38)		noncoding transcript	Het
Sorl1	T	C	9: 41,980,711 (GRCm38)	D1881G	probably damaging	Het
Tbc1d19	A	G	5: 53,856,879 (GRCm38)	N283S	probably benign	Het
Tiparp	A	T	3: 65,553,333 (GRCm38)	K581I	probably damaging	Het
Tle3	T	C	9: 61,403,446 (GRCm38)		probably benign	Het
Ubr3	C	A	2: 70,016,158 (GRCm38)	Y1608*	probably null	Het
Vmn1r59	T	C	7: 5,454,300 (GRCm38)	T154A	probably benign	Het
Vta1	A	G	10: 14,684,131 (GRCm38)	I115T	probably damaging	Het
Wwtr1	C	A	3: 57,575,789 (GRCm38)	R31L	probably damaging	Het
Zfp385b	T	C	2: 77,719,675 (GRCm38)	D22G	possibly damaging	Het
Zfp516	A	G	18: 82,957,201 (GRCm38)	E508G	probably damaging	Het
Zfp735	T	A	11: 73,690,365 (GRCm38)	V76E	possibly 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
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
IGL02739:Tcf20	APN	15	82,856,080 (GRCm38)	missense	probably damaging	1.00
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

2014-01-21