Mutagenetix > Incidental Mutation

Incidental Mutation 'R8829:Tcf20'

673716

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

068731-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.643) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82855714 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 512 (K512M)

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: K512M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: K512M

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: K512M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: K512M

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: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,171,211	D12G	probably damaging	Het
2610507B11Rik	A	G	11: 78,267,238	K409E	probably benign	Het
Aadac	A	T	3: 60,031,819	I5F	probably benign	Het
Abca13	A	T	11: 9,621,881	D4814V	probably damaging	Het
Adgrl1	A	G	8: 83,938,829	N1382D		Het
Adh6b	T	C	3: 138,349,702	V71A	probably benign	Het
Aox4	A	T	1: 58,255,490	M953L	probably benign	Het
Bach2	A	T	4: 32,562,028	E165V	probably damaging	Het
Catsperg2	A	G	7: 29,697,844	V1078A	probably benign	Het
Ccno	A	G	13: 112,989,705	N236S	probably benign	Het
Ccpg1	A	T	9: 73,010,351	D255V	probably benign	Het
Cdhr2	A	T	13: 54,718,117	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,207,058		probably benign	Het
Celsr3	A	G	9: 108,840,383	D2216G	probably benign	Het
Cenpu	T	C	8: 46,573,461	L294P	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Ctnna2	G	A	6: 77,605,222	R352*	probably null	Het
D5Ertd577e	G	T	5: 95,483,080	C272F	possibly damaging	Het
D630003M21Rik	C	A	2: 158,216,936	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,110,068	Q236*	probably null	Het
Ddx60	T	G	8: 61,940,661	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,152,404		probably null	Het
Drd5	G	A	5: 38,319,735	V24M	probably benign	Het
Dthd1	T	C	5: 62,814,265	S144P	probably benign	Het
Fam126b	A	T	1: 58,548,673	I127N	possibly damaging	Het
Fcna	C	A	2: 25,626,133	R124L	possibly damaging	Het
Frem1	T	C	4: 83,000,194	R504G	probably damaging	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Gm34653	T	A	2: 34,838,622	N144K	probably benign	Het
Gprc6a	A	C	10: 51,615,199	I818R	probably damaging	Het
Hcfc2	T	C	10: 82,738,345	Y118H	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Htr1d	A	T	4: 136,443,243	H261L	probably benign	Het
Igf1r	T	A	7: 68,226,021	F1244I	probably damaging	Het
Ighv1-63	A	G	12: 115,495,914	V21A	probably benign	Het
Kit	A	G	5: 75,639,131	N508D	probably benign	Het
Klk1b22	A	T	7: 44,114,853	E68D	probably benign	Het
Knstrn	C	T	2: 118,823,741	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,614,420	C122S	unknown	Het
Map3k1	T	G	13: 111,752,481	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,378,223	K22N	probably damaging	Het
Mpo	T	A	11: 87,803,424	F660Y	probably damaging	Het
Myb	A	T	10: 21,145,231	L433H	probably damaging	Het
Myo1c	G	A	11: 75,670,246	V793I	probably benign	Het
Nckap1l	T	A	15: 103,478,815	S706T	probably benign	Het
Ncoa3	A	G	2: 166,050,148	Y148C	probably damaging	Het
Nktr	T	A	9: 121,754,264	S1432T	unknown	Het
Odf2l	C	T	3: 145,128,059	S160L	probably benign	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr688	T	C	7: 105,288,228	L45P	possibly damaging	Het
Olfr930	G	T	9: 38,930,894	C241F	probably damaging	Het
Olfr986	T	A	9: 40,187,913	F266Y	probably benign	Het
Pclo	T	C	5: 14,788,450	W1424R		Het
Pcx	A	G	19: 4,601,940	D72G	probably damaging	Het
Pebp4	A	G	14: 70,048,467	D193G	probably benign	Het
Pi4kb	C	T	3: 94,993,033	T326M	probably damaging	Het
Piezo1	A	C	8: 122,491,014	M1265R		Het
Pip4k2c	A	T	10: 127,201,168	H177Q	probably damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptger3	A	G	3: 157,567,786	T257A	probably damaging	Het
Relt	T	A	7: 100,850,272	S147C	probably damaging	Het
Scap	A	G	9: 110,380,203	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,483,617	D1919V	probably benign	Het
Sept8	G	A	11: 53,532,038	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,515,527	I19V	probably benign	Het
Slc16a6	A	G	11: 109,455,106	Y444H	probably benign	Het
Syne1	T	C	10: 5,108,685	E7276G	probably benign	Het
Syt1	C	A	10: 108,642,332	C77F	probably benign	Het
Tomm7	T	C	5: 23,844,049	K9E	possibly damaging	Het
Trank1	T	C	9: 111,347,523	S288P	probably benign	Het
Trem3	T	C	17: 48,249,837	V112A	probably benign	Het
Ttbk1	C	A	17: 46,446,895	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,893,839	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,281,046	Y418*	probably null	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
R8728:Tcf20	UTSW	15	82854957	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'- AAGCGCCACACTTATAGGTG -3'
(R):5'- ACTCCATCAATGATGCCCAG -3'

Sequencing Primer
(F):5'- CCACACTTATAGGTGGTGTCAGAGC -3'
(R):5'- AGTCCTAACTCTCATGCTGCAGG -3'

Posted On

2021-07-15