Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01825:Tcf20'

154656

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 #

IGL01825

Quality Score

Status

Chromosome

Chromosomal Location

82692637-82872073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82737167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1428 (T1428I)

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: T1428I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: T1428I

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: T1428I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: T1428I

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,069,217 (GRCm39)	E222G	probably damaging	Het
Aftph	T	A	11: 20,676,569 (GRCm39)	I347F	possibly damaging	Het
Braf	T	C	6: 39,616,524 (GRCm39)	D549G	probably damaging	Het
Cnbd2	T	A	2: 156,180,629 (GRCm39)	L142Q	probably damaging	Het
Ctbp1	C	T	5: 33,416,477 (GRCm39)		probably null	Het
Cuta	T	C	17: 27,157,438 (GRCm39)	I98V	probably benign	Het
Dip2a	A	T	10: 76,108,514 (GRCm39)	C1226*	probably null	Het
Dnah6	T	C	6: 73,042,759 (GRCm39)	E3221G	probably damaging	Het
Grm3	A	G	5: 9,561,600 (GRCm39)	L750P	probably damaging	Het
Herc1	T	C	9: 66,307,089 (GRCm39)	Y970H	probably benign	Het
Hnrnpr	T	A	4: 136,066,850 (GRCm39)	Y470*	probably null	Het
Kmt2c	T	A	5: 25,515,594 (GRCm39)	I2750F	probably damaging	Het
Lrig3	A	T	10: 125,845,886 (GRCm39)	T772S	probably damaging	Het
Mthfd2	T	C	6: 83,287,493 (GRCm39)	T191A	probably benign	Het
Or5p78	C	A	7: 108,212,261 (GRCm39)	T249K	probably damaging	Het
Pfkp	A	T	13: 6,671,014 (GRCm39)	N175K	probably damaging	Het
Plcz1	T	C	6: 139,949,642 (GRCm39)	D451G	probably benign	Het
Plxna2	T	A	1: 194,471,210 (GRCm39)	C994S	probably damaging	Het
Ptdss1	T	C	13: 67,135,886 (GRCm39)	I381T	probably benign	Het
Scgb2b24	G	T	7: 33,438,652 (GRCm39)	T20K	probably damaging	Het
Slc23a1	A	T	18: 35,757,256 (GRCm39)	W272R	probably damaging	Het
Tnfsf9	A	G	17: 57,414,335 (GRCm39)	D254G	possibly damaging	Het
Ttc4	C	T	4: 106,528,816 (GRCm39)		probably null	Het
Xdh	A	G	17: 74,198,240 (GRCm39)	Y1216H	probably damaging	Het
Zbtb21	G	T	16: 97,753,889 (GRCm39)	N159K	possibly damaging	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
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
IGL03058:Tcf20	APN	15	82,736,205 (GRCm39)	missense	probably damaging	0.96
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

2014-02-04