Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00539:Tcf20'

4065

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 #

IGL00539

Quality Score

Status

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82852756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1498 (Q1498L)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000048966
AA Change: Q1498L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: Q1498L

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: ENSMUST00000109510
AA Change: Q1498L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: Q1498L

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	C	A	19: 9,007,908	D2185E	possibly damaging	Het
Camk2b	A	G	11: 5,972,310	S560P	probably damaging	Het
Cdh13	C	A	8: 119,312,506	N562K	possibly damaging	Het
Cdhr4	A	G	9: 107,999,545	Y771C	probably damaging	Het
Ermap	A	G	4: 119,183,917	S299P	probably damaging	Het
Fgd3	A	G	13: 49,275,643		probably benign	Het
Fpr-rs4	T	A	17: 18,021,926	L65Q	probably damaging	Het
Hsph1	C	T	5: 149,618,789	R723H	possibly damaging	Het
Iqcb1	A	G	16: 36,858,511	K396E	probably damaging	Het
Kif21a	T	C	15: 90,937,301	T1424A	probably damaging	Het
Mpdz	T	C	4: 81,361,351	S700G	possibly damaging	Het
Mta3	G	A	17: 83,762,983	R39Q	probably benign	Het
Muc4	A	T	16: 32,750,910	T263S	possibly damaging	Het
Ncan	G	A	8: 70,115,271	P64S	probably benign	Het
Pisd	T	C	5: 32,738,412	I441V	probably benign	Het
Pla2g4f	T	C	2: 120,302,738	H660R	possibly damaging	Het
Polq	A	G	16: 37,060,569	T753A	probably damaging	Het
Ptchd4	C	T	17: 42,316,926	Q93*	probably null	Het
Sfpq	T	C	4: 127,023,688	V437A	possibly damaging	Het
Slc18b1	G	A	10: 23,824,761		probably null	Het
Taf1c	C	T	8: 119,601,328	V277I	possibly damaging	Het
Tet1	C	A	10: 62,814,497	C1644F	probably damaging	Het
Trmt5	T	C	12: 73,284,919	E121G	possibly damaging	Het
Wapl	A	G	14: 34,695,008	D525G	probably damaging	Het
Ylpm1	A	G	12: 85,028,954	T360A	possibly damaging	Het
Zfp292	G	A	4: 34,808,790	P1418L	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
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
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

2012-04-20