Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03058:Tcf20'

409338

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

IGL03058

Quality Score

Status

Chromosome

Chromosomal Location

82692637-82872073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82736205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1749 (F1749L)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: F1749L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: F1749L

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: F1749L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: F1749L

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: 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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,109,112 (GRCm39)	V395A	probably benign	Het
Adck1	A	T	12: 88,425,900 (GRCm39)	T443S	probably benign	Het
Axdnd1	G	A	1: 156,204,233 (GRCm39)	A541V	probably benign	Het
B020011L13Rik	A	G	1: 117,710,699 (GRCm39)	D35G	possibly damaging	Het
Bmp3	T	G	5: 99,019,953 (GRCm39)	I125M	probably damaging	Het
Cdc40	T	C	10: 40,725,824 (GRCm39)	E215G	probably benign	Het
Ces1f	A	G	8: 93,996,600 (GRCm39)		probably null	Het
Chd8	A	C	14: 52,455,730 (GRCm39)	V986G	probably damaging	Het
Clca4a	A	T	3: 144,667,595 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,580,306 (GRCm39)	E91V	probably damaging	Het
Dgkh	T	A	14: 78,865,237 (GRCm39)	H53L	probably benign	Het
Dnajc1	T	C	2: 18,222,132 (GRCm39)	D532G	possibly damaging	Het
Dot1l	T	C	10: 80,626,831 (GRCm39)	S230P	probably benign	Het
Evi5	C	T	5: 107,896,017 (GRCm39)	V809M	probably damaging	Het
Fbn1	T	A	2: 125,245,120 (GRCm39)	M256L	probably benign	Het
Fem1al	T	C	11: 29,774,656 (GRCm39)	D267G	probably benign	Het
Fgfr2	C	T	7: 129,784,422 (GRCm39)	D292N	probably damaging	Het
Fmn1	C	T	2: 113,272,159 (GRCm39)		probably benign	Het
Htatsf1	T	A	X: 56,104,281 (GRCm39)	D203E	probably damaging	Het
Kcnh1	T	A	1: 192,117,199 (GRCm39)	L51Q	probably damaging	Het
Lamp5	A	T	2: 135,911,047 (GRCm39)	H260L	probably benign	Het
Mindy4	T	A	6: 55,285,183 (GRCm39)	V659D	probably damaging	Het
Mkks	C	A	2: 136,718,090 (GRCm39)	L397F	probably damaging	Het
Ncan	G	A	8: 70,560,582 (GRCm39)	S795F	possibly damaging	Het
Or13c7d	A	C	4: 43,770,255 (GRCm39)	F252C	probably damaging	Het
Or9g4	T	C	2: 85,505,025 (GRCm39)	I157V	probably benign	Het
Papolg	T	C	11: 23,845,029 (GRCm39)	M4V	probably benign	Het
Pdk3	A	T	X: 92,845,892 (GRCm39)	I143N	probably benign	Het
Polr2a	A	T	11: 69,635,873 (GRCm39)		probably null	Het
Prc1	C	T	7: 79,950,873 (GRCm39)	T78I	probably benign	Het
Ret	C	A	6: 118,152,028 (GRCm39)	D569Y	probably damaging	Het
Samd9l	G	T	6: 3,374,980 (GRCm39)	N760K	probably damaging	Het
Slc5a12	T	A	2: 110,471,137 (GRCm39)	S460T	probably benign	Het
Slco1c1	A	G	6: 141,508,913 (GRCm39)	I573M	probably benign	Het
Spata31f1e	G	A	4: 42,793,764 (GRCm39)	L123F	probably damaging	Het
Steap4	A	G	5: 8,025,664 (GRCm39)	D75G	probably benign	Het
Thbs2	T	C	17: 14,910,231 (GRCm39)	T123A	possibly damaging	Het
Tmc3	T	C	7: 83,265,094 (GRCm39)	S663P	possibly damaging	Het
Vmn2r121	G	T	X: 123,042,618 (GRCm39)	H180N	probably benign	Het
Vnn1	T	C	10: 23,780,442 (GRCm39)	F477L	probably benign	Het
Xpnpep2	A	G	X: 47,214,302 (GRCm39)		probably null	Het
Zfand4	T	C	6: 116,265,038 (GRCm39)	F168L	probably benign	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82,739,096 (GRCm39)	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82,741,343 (GRCm39)	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82,736,957 (GRCm39)	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82,740,276 (GRCm39)	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82,738,101 (GRCm39)	missense	probably benign
IGL01670:Tcf20	APN	15	82,739,564 (GRCm39)	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82,741,361 (GRCm39)	missense	probably damaging	1.00
IGL01767:Tcf20	APN	15	82,740,209 (GRCm39)	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82,737,167 (GRCm39)	missense	probably benign
IGL01834:Tcf20	APN	15	82,739,898 (GRCm39)	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82,739,356 (GRCm39)	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82,737,660 (GRCm39)	missense	probably benign	0.28
IGL02731:Tcf20	APN	15	82,737,438 (GRCm39)	missense	probably benign	0.00
IGL02739:Tcf20	APN	15	82,740,281 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Tcf20	UTSW	15	82,735,785 (GRCm39)	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82,736,501 (GRCm39)	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82,739,286 (GRCm39)	missense	probably benign
R0732:Tcf20	UTSW	15	82,736,504 (GRCm39)	missense	probably benign	0.07
R1502:Tcf20	UTSW	15	82,739,777 (GRCm39)	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82,739,693 (GRCm39)	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82,736,978 (GRCm39)	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82,741,431 (GRCm39)	nonsense	probably null
R2152:Tcf20	UTSW	15	82,739,803 (GRCm39)	missense	probably damaging	1.00
R2173:Tcf20	UTSW	15	82,738,893 (GRCm39)	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82,735,886 (GRCm39)	missense	probably benign
R4049:Tcf20	UTSW	15	82,737,630 (GRCm39)	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82,739,185 (GRCm39)	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82,735,928 (GRCm39)	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82,738,400 (GRCm39)	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82,740,804 (GRCm39)	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82,740,386 (GRCm39)	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82,740,582 (GRCm39)	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82,740,156 (GRCm39)	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82,739,910 (GRCm39)	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82,736,158 (GRCm39)	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82,740,400 (GRCm39)	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82,737,443 (GRCm39)	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82,735,984 (GRCm39)	nonsense	probably null
R6089:Tcf20	UTSW	15	82,737,409 (GRCm39)	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82,736,187 (GRCm39)	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82,739,081 (GRCm39)	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82,736,861 (GRCm39)	missense	probably benign
R6688:Tcf20	UTSW	15	82,738,736 (GRCm39)	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82,738,883 (GRCm39)	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82,740,279 (GRCm39)	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82,737,690 (GRCm39)	missense	probably benign
R7486:Tcf20	UTSW	15	82,737,935 (GRCm39)	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82,739,477 (GRCm39)	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82,735,766 (GRCm39)	missense	possibly damaging	0.92
R8090:Tcf20	UTSW	15	82,740,207 (GRCm39)	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82,737,138 (GRCm39)	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82,737,606 (GRCm39)	nonsense	probably null
R8259:Tcf20	UTSW	15	82,736,474 (GRCm39)	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82,736,877 (GRCm39)	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82,737,437 (GRCm39)	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82,740,152 (GRCm39)	missense	probably benign	0.07
R8728:Tcf20	UTSW	15	82,739,158 (GRCm39)	missense	probably damaging	1.00
R8829:Tcf20	UTSW	15	82,739,915 (GRCm39)	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82,736,726 (GRCm39)	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82,740,705 (GRCm39)	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82,740,705 (GRCm39)	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82,736,897 (GRCm39)	missense	probably benign	0.11
R9648:Tcf20	UTSW	15	82,739,876 (GRCm39)	missense	probably damaging	1.00
R9675:Tcf20	UTSW	15	82,740,986 (GRCm39)	missense	probably damaging	1.00
R9729:Tcf20	UTSW	15	82,736,037 (GRCm39)	missense	probably benign	0.25
RF019:Tcf20	UTSW	15	82,735,794 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02