Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Tcf20'

544936

Institutional Source

Beutler Lab

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

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

MMRRC Submission

045111-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82692637-82872073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82738883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 856 (T856I)

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: T856I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: T856I

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: T856I

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: T856I

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Ager	A	G	17: 34,819,710 (GRCm39)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,566,422 (GRCm39)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Npr3	C	T	15: 11,905,334 (GRCm39)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,758,618 (GRCm39)	S2T	probably benign	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	probably 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTCCCAATGAGTGAGC -3'
(R):5'- AGGAAGTGCTTCAGGGCTAC -3'

Sequencing Primer
(F):5'- TCCCAATGAGTGAGCCCCTG -3'
(R):5'- TCCTGACAGAAGGTATCCTAGAAGC -3'

Posted On

2019-05-13