Mutagenetix > Incidental Mutations

Incidental Mutation 'R8728:Tcf20'

662603

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82854957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 764 (D764E)

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: D764E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: D764E

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: D764E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: D764E

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430105I19Rik	T	C	2: 118,757,312	T514A	probably benign	Het
Adam2	A	G	14: 66,057,637	L253P	probably damaging	Het
Adamts20	C	T	15: 94,331,400	G946D	probably benign	Het
Afdn	A	G	17: 13,898,945	R1648G	probably damaging	Het
Ak9	G	A	10: 41,406,963	A1242T		Het
Anxa9	T	C	3: 95,302,668	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,719,088	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,746,106	M122L	possibly damaging	Het
Bms1	A	G	6: 118,392,370	I990T	possibly damaging	Het
Cdk14	G	A	5: 5,420,117		silent	Het
Celsr3	T	C	9: 108,846,741	L2899S	probably benign	Het
Ces1b	A	T	8: 93,071,948	D203E	probably benign	Het
Cnnm1	A	G	19: 43,484,926	N753S	probably benign	Het
Col19a1	C	T	1: 24,326,032	G501R	probably damaging	Het
Cym	A	G	3: 107,218,675	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,626,161	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,098,312		probably null	Het
Cyp4a31	G	A	4: 115,565,028	E70K	probably benign	Het
Dagla	G	A	19: 10,248,407	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,846,806	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,233,833	L28P	probably benign	Het
Ddr2	T	C	1: 170,001,983	D234G	possibly damaging	Het
Fam83a	T	A	15: 58,009,666	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,520,036	D426V	probably damaging	Het
Gm10093	A	G	17: 78,492,903	K441R	probably benign	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 142,156,529		probably benign	Het
Gm43302	T	C	5: 105,290,927	I32V	probably benign	Het
Gm9944	T	C	4: 144,453,031	Y96C	unknown	Het
Impdh2	C	T	9: 108,560,363		probably benign	Het
Iws1	G	A	18: 32,083,281	R358Q	probably damaging	Het
Kctd18	G	T	1: 57,963,130	D179E	probably damaging	Het
Krt13	T	G	11: 100,121,492	S2R	probably null	Het
Krt78	A	T	15: 101,947,790	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,643,962	C25S	unknown	Het
Lama1	T	C	17: 67,818,668	I2940T		Het
Lmnb2	A	G	10: 80,905,079		probably null	Het
Lrrc27	A	T	7: 139,242,639	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,208,657	T67M	probably benign	Het
Malrd1	T	A	2: 15,696,942	C789*	probably null	Het
Mei1	T	G	15: 82,081,981	V268G		Het
Mical3	C	A	6: 120,973,553	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,479	P29L	probably benign	Het
Mroh2b	T	C	15: 4,905,640	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952	T1609S	unknown	Het
Myrfl	A	T	10: 116,798,640	C616*	probably null	Het
Ncor1	C	T	11: 62,330,859	A946T	probably benign	Het
Olfr122	C	A	17: 37,771,751	L33M	probably damaging	Het
Olfr330	T	C	11: 58,529,201	T262A	probably benign	Het
Pbp2	T	C	6: 135,310,106	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,069,088	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 12,897,278	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,617,804	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,586,873		probably null	Het
Rbm4b	G	A	19: 4,762,191	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,557	V238A	probably damaging	Het
Sesn1	G	T	10: 41,903,775	G402W	probably damaging	Het
Six4	A	G	12: 73,112,406	V260A	probably benign	Het
Srrm2	G	A	17: 23,819,857	R1825Q	unknown	Het
Stat1	G	A	1: 52,139,194	W262*	probably null	Het
Tgm2	T	C	2: 158,120,145	N585D	probably benign	Het
Tmf1	A	T	6: 97,156,860	L1039H	probably damaging	Het
Trak2	A	G	1: 58,935,775	V86A	probably benign	Het
Ttc39b	A	G	4: 83,253,010	I202T	probably damaging	Het
Uhrf1bp1l	A	T	10: 89,782,720	M274L	probably benign	Het
Vmn1r30	A	G	6: 58,435,475	F124S	probably benign	Het
Vwa7	T	A	17: 35,017,157	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,731,513	M281L	probably benign	Het
Zfand2a	C	T	5: 139,481,998	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,031,820	A935P	probably damaging	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82854895	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82857142	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82852756	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82856075	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82853900	missense	probably benign
IGL01670:Tcf20	APN	15	82855363	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82857160	missense	probably damaging	1.00
IGL01767:Tcf20	APN	15	82856008	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82852966	missense	probably benign
IGL01834:Tcf20	APN	15	82855697	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82855155	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82853459	missense	probably benign	0.28
IGL02731:Tcf20	APN	15	82853237	missense	probably benign	0.00
IGL02739:Tcf20	APN	15	82856080	missense	probably damaging	1.00
IGL03058:Tcf20	APN	15	82852004	missense	probably damaging	0.96
PIT4131001:Tcf20	UTSW	15	82851584	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82852300	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82855085	missense	probably benign
R0732:Tcf20	UTSW	15	82852303	missense	probably benign	0.07
R1502:Tcf20	UTSW	15	82855576	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82855492	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82852777	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82857230	nonsense	probably null
R2152:Tcf20	UTSW	15	82855602	missense	probably damaging	1.00
R2173:Tcf20	UTSW	15	82854692	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82851685	missense	probably benign
R4049:Tcf20	UTSW	15	82853429	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82854984	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82851727	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82854199	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82856603	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82856185	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82856381	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82855955	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82855709	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82851957	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82856199	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82853242	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82851783	nonsense	probably null
R6089:Tcf20	UTSW	15	82853208	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82851986	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82854880	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82852660	missense	probably benign
R6688:Tcf20	UTSW	15	82854535	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82854682	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82856078	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82853489	missense	probably benign
R7486:Tcf20	UTSW	15	82853734	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82855276	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82851565	missense	possibly damaging	0.92
R8090:Tcf20	UTSW	15	82856006	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82852937	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82853405	nonsense	probably null
R8259:Tcf20	UTSW	15	82852273	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82852676	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82853236	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82855951	missense	probably benign	0.07
R8829:Tcf20	UTSW	15	82855714	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82852525	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82852696	missense	probably benign	0.11
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTGTTCAGAAGGCCCCTG -3'
(R):5'- AGCTCTAACCACAATGGAGAGG -3'

Sequencing Primer
(F):5'- GAAGGCCCCTGCTAGCTAATTC -3'
(R):5'- TCTAACCACAATGGAGAGGGGAATG -3'

Posted On

2021-03-08