Mutagenetix > Incidental Mutation

Incidental Mutation 'RF019:Tcf20'

603757

Institutional Source

Beutler Lab

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 #

RF019 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82851593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1886 (I1886V)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000048966
AA Change: I1886V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: I1886V

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: I1886V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: I1886V

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

Validation Efficiency

86% (36/42)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	G	1: 138,856,691 (GRCm38)	S43P	probably benign	Het
3110021N24Rik	AGCGCGGCCGGG	AG	4: 108,780,630 (GRCm38)		probably null	Het
4931406P16Rik	A	G	7: 34,240,549 (GRCm38)	F918L	probably damaging	Het
Ankrd11	A	G	8: 122,896,634 (GRCm38)	V294A	probably damaging	Het
Ciita	T	A	16: 10,506,747 (GRCm38)	I181N	probably damaging	Het
Col6a1	T	C	10: 76,711,615 (GRCm38)	M675V	unknown	Het
Colec11	A	G	12: 28,612,883 (GRCm38)	V62A	probably benign	Het
Eif3i	T	C	4: 129,600,465 (GRCm38)	T14A	probably damaging	Het
Filip1l	A	G	16: 57,570,641 (GRCm38)	T531A	probably benign	Het
Fscb	GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,472,596 (GRCm38)		probably benign	Het
Gpr89	T	C	3: 96,905,193 (GRCm38)	I11V	probably benign	Het
H13	G	A	2: 152,669,669 (GRCm38)	E30K	probably damaging	Het
Hivep3	T	C	4: 120,098,270 (GRCm38)	V1261A	probably benign	Het
Itgad	C	A	7: 128,192,208 (GRCm38)	H751N	probably benign	Het
Krtap28-10	CCACAGCCACAGCCA	CCACAGCCACAGCCAACACAGCCACAGCCA	1: 83,042,269 (GRCm38)		probably benign	Het
L1td1	A	G	4: 98,736,824 (GRCm38)	K419E	not run	Het
Mast4	GGTGGTGGTGG	GGTGGTGGTGGTGGTGG	13: 102,736,307 (GRCm38)		probably benign	Het
Mbtps1	A	T	8: 119,525,550 (GRCm38)	W534R	probably damaging	Het
Myo9a	T	C	9: 59,921,772 (GRCm38)	V2387A	probably benign	Het
Ncapg	C	A	5: 45,698,856 (GRCm38)	P949Q	probably benign	Het
Nuggc	T	C	14: 65,648,264 (GRCm38)	F796S	probably damaging	Het
Otol1	A	T	3: 70,018,600 (GRCm38)	E36V	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTAT	15: 44,558,507 (GRCm38)		probably benign	Het
Ralgapa2	A	G	2: 146,361,503 (GRCm38)	I1095T	possibly damaging	Het
Reep1	C	CCGCG	6: 71,707,969 (GRCm38)		probably null	Het
Smarca2	GCAGCA	GCAGCAACAGCA	19: 26,631,001 (GRCm38)		probably benign	Het
Txnrd1	T	G	10: 82,885,100 (GRCm38)		probably null	Het
Unc5b	A	G	10: 60,783,183 (GRCm38)	V60A	probably damaging	Het
Vmn1r45	A	T	6: 89,933,109 (GRCm38)	V293E	probably damaging	Het
Zfhx4	T	A	3: 5,403,267 (GRCm38)	D2853E	probably benign	Het
Zfp108	G	T	7: 24,261,607 (GRCm38)	R541L	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGTGATGTGAAAGAACAAAGGCC -3'
(R):5'- CTGCTCATCCTAGGTTCAAGCG -3'

Sequencing Primer
(F):5'- TGTGAAAGAACAAAGGCCAAGGTG -3'
(R):5'- ACCGCTCAGAAGACTGTGGTG -3'

Posted On

2019-12-04