Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4131001:Tcf20'

523262

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: 0.643) question?

Stock #

PIT4131001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 82851584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1889 (A1889S)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: A1889S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: A1889S

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: A1889S

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: A1889S

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (126/137)

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,719,806		probably benign	Het
A530032D15Rik	G	A	1: 85,099,620	A75V	probably benign	Het
Alpk2	G	A	18: 65,306,379	H648Y	possibly damaging	Het
Ambp	A	G	4: 63,144,265	Y246H	probably damaging	Het
Amz1	T	C	5: 140,749,333		probably null	Het
Anks6	G	A	4: 47,027,109	T703I	probably damaging	Het
Armc2	A	G	10: 41,947,887		probably benign	Het
Atp7b	T	A	8: 21,994,656	I1347F	probably damaging	Het
Atp8a1	C	T	5: 67,622,602	W1149*	probably null	Het
Auh	A	G	13: 52,841,010	I173T	probably damaging	Het
AW822073	A	G	10: 58,223,454	C493R	probably benign	Het
AW822073	G	A	10: 58,224,314		probably benign	Het
AW822073	C	T	10: 58,224,882	E17K	possibly damaging	Het
Axin2	T	C	11: 108,924,003	L239P	possibly damaging	Het
Bbs1	A	T	19: 4,899,259	F257L	possibly damaging	Het
C130026I21Rik	A	C	1: 85,245,674		probably benign	Het
Cacna2d2	C	T	9: 107,524,668	P774L	probably damaging	Het
Card6	A	G	15: 5,108,306	L22P	probably damaging	Het
Ccdc171	C	T	4: 83,661,709			Het
Cdc14a	T	A	3: 116,328,661	N219I	possibly damaging	Het
Cfap65	G	T	1: 74,928,342	N192K	probably benign	Het
Col14a1	T	C	15: 55,448,876		probably benign	Het
Col5a1	A	G	2: 28,024,653	T94A	probably benign	Het
Col6a5	T	C	9: 105,881,914	N2031S	probably damaging	Het
Col7a1	T	C	9: 108,965,921		probably benign	Het
Ctgf	T	C	10: 24,596,090	V70A	probably damaging	Het
Cyld	T	C	8: 88,746,915	S739P	probably damaging	Het
Dbr1	A	G	9: 99,584,019		probably null	Het
Dip2b	T	C	15: 100,202,352	L1267P	probably damaging	Het
Dolk	A	G	2: 30,285,574	M153T	probably benign	Het
Duxf3	A	C	10: 58,231,676	S27A	probably benign	Het
Eef1d	C	T	15: 75,903,732	R26H	probably benign	Homo
Efcab5	C	T	11: 77,137,691			Het
Epc1	T	C	18: 6,449,246	D467G	probably damaging	Het
Fancm	T	G	12: 65,105,422	M884R	probably benign	Het
Fbxo24	G	T	5: 137,621,902	H15N	probably damaging	Het
Frem1	A	G	4: 83,005,808	F305L	probably damaging	Het
Fstl5	A	G	3: 76,659,699	D550G	probably damaging	Het
Gcnt3	T	G	9: 70,034,044	K414T	possibly damaging	Het
Gm10471	A	T	5: 26,086,487	F107Y	probably benign	Het
Gm10471	C	G	5: 26,089,095	W28C	probably damaging	Het
Gm10718	A	T	9: 3,024,417	T134S	probably benign	Het
Gm10722	A	G,C	9: 3,001,414		probably benign	Het
Gm10800	A	C	2: 98,666,548	F220C	probably benign	Het
Gm10800	T	C	2: 98,666,818	R152G	probably benign	Homo
Gm10800	C	A	2: 98,666,905	V123F	probably benign	Homo
Gm10801	A	G	2: 98,662,303	R23G	probably benign	Homo
Gm11168	C	T	9: 3,004,605	P49S	probably benign	Het
Gm21677	T	C	Y: 3,297,411	H235R	probably benign	Het
Gm21693	C	T	Y: 3,328,944	A241T	possibly damaging	Het
Gm21738	G	A	14: 19,417,330	S66L	probably benign	Het
Gm4064	T	A	Y: 2,787,132	N228Y	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,266,278		probably benign	Het
Hmgcr	A	G	13: 96,659,054	Y336H	probably damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Homo
Hoxa13	G	C	6: 52,260,648		probably benign	Homo
Igf2bp3	A	C	6: 49,117,150		probably null	Het
Kcnb2	A	T	1: 15,312,976	K175N	possibly damaging	Het
Kdr	T	C	5: 75,941,971		probably benign	Het
Kif5c	A	G	2: 49,694,032	K160E	probably damaging	Het
Kif7	A	T	7: 79,711,069	V186E	probably damaging	Het
Krt16	T	A	11: 100,248,749	T48S	unknown	Het
Liph	T	C	16: 21,995,369	M1V	probably null	Het
Mctp2	A	G	7: 72,090,257	F795S	probably damaging	Het
Muc4	C	G	16: 32,755,676		probably benign	Homo
Muc4	T	A	16: 32,755,684		probably benign	Homo
Muc4	T	A	16: 32,755,699		probably benign	Homo
Myo15	G	T	11: 60,483,127	A1267S	probably damaging	Het
Myo15	T	C	11: 60,495,454	Y1802H	probably damaging	Het
Myo7b	G	A	18: 31,961,206	T1963I	probably benign	Het
Nadk2	TG	T	15: 9,100,143		probably null	Homo
Naip5	T	C	13: 100,219,739	R1123G	probably benign	Het
Naip5	T	C	13: 100,219,760	N1116D	probably benign	Het
Nap1l1	A	G	10: 111,486,722	D61G	probably null	Het
Napsa	A	T	7: 44,581,451	T81S	probably damaging	Het
Ngp	T	C	9: 110,422,269		probably benign	Het
Nktr	T	A	9: 121,741,621	V143E	probably damaging	Het
Obscn	A	G	11: 59,067,064		probably null	Het
Olfr1115	G	A	2: 87,252,629	A231T	probably benign	Het
Olfr1305	G	A	2: 111,873,304	L184F	probably benign	Het
Olfr266	T	C	3: 106,821,966	I198V	probably benign	Het
Olfr414	A	G	1: 174,430,824	Y132C	probably damaging	Het
Olfr597	C	T	7: 103,320,869	R153*	probably null	Het
Olfr653	G	A	7: 104,580,030	R128Q	probably damaging	Het
Paip2b	A	G	6: 83,808,841	Y136H	probably damaging	Het
Pde2a	G	T	7: 101,511,154	R845L	probably damaging	Het
Pgap2	A	G	7: 102,237,198	Y197C	possibly damaging	Het
Phf11b	A	G	14: 59,323,162		probably benign	Het
Pitpnm2	A	T	5: 124,131,115	D481E	probably benign	Het
Pxk	A	T	14: 8,152,130	H482L	probably benign	Het
Rad50	A	G	11: 53,694,899		probably null	Het
Rnf220	A	G	4: 117,277,369		probably null	Het
Selenbp1	C	T	3: 94,937,296	T88M	probably damaging	Het
Sft2d1	T	C	17: 8,391,031	I104T	possibly damaging	Het
Sik1	A	G	17: 31,851,331	S135P	probably damaging	Het
Slc16a3	T	C	11: 120,955,346	F34L	probably damaging	Het
Slc6a20b	T	C	9: 123,612,126	N85S	probably benign	Homo
Snrnp27	T	C	6: 86,682,911	R34G	unknown	Het
Sos2	T	C	12: 69,618,077	H393R	probably benign	Het
Sp110	C	T	1: 85,586,250	R262Q	probably benign	Het
Sp110	T	C	1: 85,586,254	R261G	probably benign	Het
Sp140	T	A	1: 85,601,172	Y5N	probably benign	Het
Sp140	G	C	1: 85,610,882	K113N	probably benign	Het
Sp140	A	G	1: 85,643,221	S461G	probably benign	Het
Ssrp1	G	A	2: 85,038,416	V40M	probably damaging	Het
Tada2a	T	C	11: 84,079,737	E202G	probably damaging	Het
Tdrd12	A	T	7: 35,481,103	Y828*	probably null	Het
Tex45	T	A	8: 3,476,062	S72T	possibly damaging	Het
Tlr2	T	A	3: 83,838,449	D109V	probably benign	Het
Tomm40	G	A	7: 19,703,091	T17M	probably damaging	Het
Tsga10ip	T	C	19: 5,390,133	T135A	possibly damaging	Het
Tspan8	G	A	10: 115,817,610	V4M	probably damaging	Het
Ttc28	A	T	5: 110,892,853	T36S	probably benign	Het
Ugt1a6b	TTCA	T	1: 88,216,158		probably benign	Het
Ugt1a6b	G	A	1: 88,216,254	A199T	probably damaging	Het
Ugt1a6b	G	A	1: 88,218,390	R519Q	probably damaging	Het
Unc45a	A	G	7: 80,326,361	M790T	possibly damaging	Het
Vav3	T	C	3: 109,664,435		probably null	Het
Vcpkmt	G	A	12: 69,582,778	S70L	probably benign	Het
Vmn1r3	C	T	4: 3,184,691	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774	V178I	probably benign	Het
Vmn2r66	T	C	7: 84,995,093	Q703R	probably damaging	Het
Vmn2r98	G	T	17: 19,080,961	V742F	probably benign	Het
Wfdc8	A	G	2: 164,597,776	S229P	possibly damaging	Het
Xpo4	A	T	14: 57,584,611	C1083S	probably null	Het
Zbtb38	T	C	9: 96,686,316	D905G	probably damaging	Het
Zbtb8b	A	G	4: 129,427,515	*518Q	probably null	Het
Zfp600	TC	T	4: 146,195,232		probably null	Het
Zfp992	C	T	4: 146,466,112	P97S	probably benign	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
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
R8728:Tcf20	UTSW	15	82854957	missense	probably damaging	1.00
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
R9648:Tcf20	UTSW	15	82855675	missense	probably damaging	1.00
R9675:Tcf20	UTSW	15	82856785	missense	probably damaging	1.00
R9729:Tcf20	UTSW	15	82851836	missense	probably benign	0.25
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGGGTCAAGAAAGAACTTGTG -3'
(R):5'- TGCTCATCCTAGGTTCAAGCG -3'

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

Posted On

2018-06-12