Mutagenetix > Incidental Mutation

Incidental Mutation 'R7051:Tcf20'

547619

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

MMRRC Submission

045148-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.775) question?

Stock #

R7051 (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 82856078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 391 (N391D)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: N391D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: N391D

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: N391D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: N391D

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

Meta Mutation Damage Score

0.2007

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

95% (80/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	C	T	8: 33,429,173 (GRCm38)	S7L	unknown	Het
Aggf1	T	C	13: 95,351,617 (GRCm38)	K674R	possibly damaging	Het
Ampd1	T	C	3: 103,090,073 (GRCm38)	F264L	probably damaging	Het
Ankle1	A	T	8: 71,407,743 (GRCm38)	S302C	probably damaging	Het
Ankrd17	G	A	5: 90,366,451 (GRCm38)		probably benign	Het
Arhgap18	T	A	10: 26,849,921 (GRCm38)	N47K	possibly damaging	Het
Atp5pb	T	C	3: 105,943,767 (GRCm38)	N205D	probably benign	Het
Atp8b3	C	A	10: 80,529,718 (GRCm38)	V401L	probably damaging	Het
Atp8b3	C	T	10: 80,520,024 (GRCm38)	E1285K	probably benign	Het
Cacna1a	G	A	8: 84,629,915 (GRCm38)	R1929Q	possibly damaging	Het
Cadm2	C	T	16: 66,882,879 (GRCm38)	S22N	possibly damaging	Het
Ccdc177	C	T	12: 80,759,153 (GRCm38)	V116M	probably damaging	Het
Cdhr18	A	G	14: 13,828,486 (GRCm38)	V758A		Het
Cdkl2	A	T	5: 92,033,225 (GRCm38)	I185N	probably damaging	Het
Cfhr2	T	A	1: 139,810,978 (GRCm38)	I282L	probably benign	Het
Clns1a	T	A	7: 97,712,617 (GRCm38)		probably null	Het
Commd2	A	T	3: 57,646,686 (GRCm38)	I198N	probably damaging	Het
Creb3l2	C	T	6: 37,336,265 (GRCm38)	V365I	possibly damaging	Het
Dcaf6	A	T	1: 165,424,317 (GRCm38)	N79K	possibly damaging	Het
Dlg5	T	C	14: 24,146,195 (GRCm38)	N1622D	possibly damaging	Het
Dock7	C	T	4: 98,946,732 (GRCm38)	R1802H	probably damaging	Het
Dpy19l2	T	C	9: 24,584,493 (GRCm38)	K643R	probably benign	Het
Dscam	G	A	16: 96,819,786 (GRCm38)	T574M	probably benign	Het
Fam209	A	G	2: 172,474,049 (GRCm38)	T115A	probably damaging	Het
Fastkd5	C	T	2: 130,614,417 (GRCm38)	C751Y	probably damaging	Het
Fat3	C	A	9: 16,377,827 (GRCm38)	L133F	probably damaging	Het
Fcsk	A	T	8: 110,890,339 (GRCm38)	I393N	probably damaging	Het
Frmd6	T	C	12: 70,897,396 (GRCm38)	V516A	possibly damaging	Het
Fry	G	A	5: 150,395,169 (GRCm38)	D955N	possibly damaging	Het
Gm7298	T	C	6: 121,775,034 (GRCm38)		probably null	Het
Golga7b	T	A	19: 42,268,460 (GRCm38)	*168R	probably null	Het
Golim4	T	A	3: 75,893,002 (GRCm38)	Q395L	probably benign	Het
Gxylt2	T	A	6: 100,804,576 (GRCm38)	L404*	probably null	Het
H1f4	A	G	13: 23,622,439 (GRCm38)	V20A	probably benign	Het
Ighmbp2	G	T	19: 3,261,462 (GRCm38)	S984R	probably damaging	Het
Irf8	C	T	8: 120,739,842 (GRCm38)	R9W	probably damaging	Het
Itga4	T	C	2: 79,318,126 (GRCm38)	V788A	possibly damaging	Het
Kifap3	G	A	1: 163,794,080 (GRCm38)	R99H	probably damaging	Het
Kiss1r	T	C	10: 79,918,854 (GRCm38)	S61P	probably damaging	Het
Krtap6-1	A	T	16: 89,031,718 (GRCm38)	M1L	unknown	Het
Large2	A	T	2: 92,367,022 (GRCm38)	M411K	probably damaging	Het
Lcor	A	G	19: 41,585,752 (GRCm38)	D982G	probably benign	Het
Lingo1	A	G	9: 56,620,183 (GRCm38)	V374A	probably benign	Het
Lrch1	A	G	14: 74,785,522 (GRCm38)	V637A	probably damaging	Het
Lyar	T	C	5: 38,224,680 (GRCm38)	V2A	probably damaging	Het
Nell1	C	T	7: 50,448,844 (GRCm38)	S298L	unknown	Het
Ogfod3	T	A	11: 121,195,205 (GRCm38)	I188F	probably damaging	Het
Opa3	C	A	7: 19,245,036 (GRCm38)	A142E	possibly damaging	Het
Or5b123	T	A	19: 13,619,405 (GRCm38)	M81K	possibly damaging	Het
Or5k1	T	C	16: 58,797,175 (GRCm38)	T224A	probably benign	Het
Pald1	T	C	10: 61,323,346 (GRCm38)	R769G	probably benign	Het
Pappa2	T	A	1: 158,957,183 (GRCm38)	T86S	unknown	Het
Papss1	T	C	3: 131,602,050 (GRCm38)	Y266H	probably damaging	Het
Pcdhga7	C	A	18: 37,716,941 (GRCm38)	A667D	probably damaging	Het
Pcsk5	T	A	19: 17,433,731 (GRCm38)	T1766S	probably benign	Het
Pds5b	T	A	5: 150,794,282 (GRCm38)	N1129K	possibly damaging	Het
Pop7	T	C	5: 137,501,690 (GRCm38)	N127S	probably damaging	Het
Ppfibp2	A	G	7: 107,717,718 (GRCm38)	E300G	probably damaging	Het
Ppp4r3b	A	G	11: 29,182,507 (GRCm38)	K87E	probably damaging	Het
Psmd3	T	A	11: 98,682,833 (GRCm38)	M35K	possibly damaging	Het
Pus7	A	G	5: 23,775,679 (GRCm38)	V191A	probably damaging	Het
Rptor	C	T	11: 119,874,186 (GRCm38)		probably benign	Het
Sacs	A	G	14: 61,208,928 (GRCm38)	M2808V	probably benign	Het
Scube3	G	A	17: 28,167,599 (GRCm38)	V831I	probably benign	Het
Sin3a	A	T	9: 57,103,934 (GRCm38)	N492Y	probably damaging	Het
Slc12a3	A	G	8: 94,365,944 (GRCm38)	T998A	probably damaging	Het
Slc4a1	T	C	11: 102,356,258 (GRCm38)	N501S	probably benign	Het
Sltm	G	A	9: 70,559,066 (GRCm38)	G94R	probably damaging	Het
Smc4	T	A	3: 69,027,502 (GRCm38)	W650R	probably damaging	Het
Smg7	A	G	1: 152,848,850 (GRCm38)	S527P	probably damaging	Het
Tiam2	G	A	17: 3,448,483 (GRCm38)	V845M	probably damaging	Het
Tln2	A	G	9: 67,346,417 (GRCm38)	F793L	probably benign	Het
Uckl1	T	C	2: 181,574,244 (GRCm38)	I193V	probably damaging	Het
Ugt1a5	A	G	1: 88,166,355 (GRCm38)	M102V	probably benign	Het
Usp38	G	A	8: 81,001,121 (GRCm38)	P328S	possibly damaging	Het
Vmn1r189	A	G	13: 22,102,115 (GRCm38)	V184A	possibly damaging	Het
Vps13d	C	A	4: 145,163,344 (GRCm38)	A597S	probably benign	Het
Wdr47	T	A	3: 108,618,524 (GRCm38)	L121Q	probably damaging	Het
Wiz	A	G	17: 32,361,533 (GRCm38)	S315P	probably damaging	Het
Zc3h13	T	C	14: 75,331,157 (GRCm38)	S1297P	probably damaging	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,895,021 (GRCm38)		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
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

Predicted Primers

PCR Primer
(F):5'- CATTGATGGAGTTGGACTGAGC -3'
(R):5'- CAGGCAAAGATTCCACCAGG -3'

Sequencing Primer
(F):5'- CTGGGGCATTAGCTGTAAAATTC -3'
(R):5'- GGCAGCAGCAGCAACAGC -3'

Posted On

2019-05-13