Mutagenetix > Incidental Mutation

Incidental Mutation 'R5384:Tcf20'

424991

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 #

R5384 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82856199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 350 (Q350H)

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: Q350H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: Q350H

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: Q350H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: Q350H

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,469,960	V246A	probably benign	Het
Abcc10	T	C	17: 46,304,435	S1343G	possibly damaging	Het
Abcd3	C	A	3: 121,761,410		probably null	Het
Actl6a	T	A	3: 32,720,493	M335K	probably damaging	Het
Adamts9	A	C	6: 92,798,018	C1090W	probably damaging	Het
Ajuba	T	C	14: 54,570,398	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,534,253	N316Y	possibly damaging	Het
Ankhd1	A	G	18: 36,591,495	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,689,340		probably benign	Het
Apeh	A	T	9: 108,086,463	L551H	probably damaging	Het
Avpr1a	T	A	10: 122,449,369	F189I	probably damaging	Het
BC034090	T	A	1: 155,242,027	H115L	possibly damaging	Het
C4b	A	T	17: 34,737,661	D654E	possibly damaging	Het
Carns1	T	A	19: 4,171,901		probably null	Het
Ccdc146	T	A	5: 21,308,713	E469V	probably benign	Het
Cdc27	A	G	11: 104,507,140	I804T	probably benign	Het
Cdh23	G	A	10: 60,337,762	T1651I	probably damaging	Het
Cenpo	G	A	12: 4,216,646	P154L	probably damaging	Het
Cenpu	G	A	8: 46,562,499	G150R	probably benign	Het
Chrna10	C	A	7: 102,114,353	L78F	probably damaging	Het
Chrne	A	T	11: 70,615,087	N457K	possibly damaging	Het
Cidea	A	T	18: 67,360,166	D85V	probably damaging	Het
Cldn18	T	C	9: 99,709,858	S31G	possibly damaging	Het
Clpb	T	A	7: 101,779,341	I436N	probably damaging	Het
Col11a2	T	C	17: 34,059,174		probably null	Het
Cul7	T	C	17: 46,654,477	V527A	probably benign	Het
Dchs1	A	C	7: 105,758,029	V2119G	probably damaging	Het
Dchs1	T	A	7: 105,772,055	D386V	probably damaging	Het
Dcstamp	A	C	15: 39,759,319	Q345H	probably damaging	Het
Dlgap3	A	G	4: 127,236,330	I955V	probably damaging	Het
Dvl1	A	G	4: 155,853,686	D97G	probably damaging	Het
Dync2h1	T	C	9: 7,016,791	D3573G	probably damaging	Het
Efr3b	G	T	12: 3,983,419	F129L	probably benign	Het
Etaa1	G	A	11: 17,947,539	L193F	probably damaging	Het
Fam13c	G	A	10: 70,553,069	S474N	probably benign	Het
Fam171a2	C	A	11: 102,437,867	V689L	possibly damaging	Het
Fastkd3	T	C	13: 68,584,585	F342L	probably benign	Het
Fat4	T	C	3: 38,995,946	S3986P	possibly damaging	Het
Fbxo38	A	G	18: 62,540,971	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329	L160F	possibly damaging	Het
Fgr	G	A	4: 132,986,353		probably null	Het
Gbx2	T	C	1: 89,928,913	T252A	probably damaging	Het
Gm20671	A	G	5: 32,819,942	S1823P	probably damaging	Het
Gpatch8	A	T	11: 102,508,227		probably null	Het
Gsdma	A	T	11: 98,666,449		probably null	Het
Gucy2g	G	A	19: 55,215,116	A750V	probably damaging	Het
Hdac9	A	G	12: 34,429,558	Y223H	probably damaging	Het
Igsf5	C	A	16: 96,391,026	T275N	probably benign	Het
Il23r	G	A	6: 67,486,291	H73Y	probably benign	Het
Ipo4	G	T	14: 55,626,196	R1026S	probably benign	Het
Jade1	T	A	3: 41,591,702	I54N	probably damaging	Het
Khdrbs1	G	T	4: 129,741,936	D75E	possibly damaging	Het
Lrwd1	A	T	5: 136,123,874	D511E	possibly damaging	Het
Ly75	A	T	2: 60,334,487	C782*	probably null	Het
Mmp3	C	T	9: 7,451,759	R366*	probably null	Het
Mrgpra6	A	G	7: 47,188,881	C190R	probably damaging	Het
Myh10	T	A	11: 68,801,608	L1369Q	probably damaging	Het
Myof	C	T	19: 37,952,987	A792T	probably damaging	Het
Ncf1	A	G	5: 134,221,805	L373P	probably damaging	Het
Ncoa7	C	A	10: 30,722,817	A37S	probably benign	Het
Nfkb1	A	G	3: 135,612,542	V310A	possibly damaging	Het
Nmur2	T	A	11: 56,040,214	I224F	probably damaging	Het
Nr1d2	A	T	14: 18,211,922	S394T	probably benign	Het
Nudt12	A	G	17: 59,003,439	W390R	probably damaging	Het
Olfr1252	T	A	2: 89,721,305	I269F	possibly damaging	Het
Olfr1508	T	A	14: 52,463,257	T251S	probably benign	Het
Olfr165	A	G	16: 19,407,797	L73P	probably damaging	Het
Olfr243	T	C	7: 103,717,355	F254L	probably benign	Het
Olfr739	T	A	14: 50,425,389	V290E	possibly damaging	Het
Pate2	A	G	9: 35,670,541	M44V	probably damaging	Het
Pikfyve	T	C	1: 65,244,409	L735S	probably damaging	Het
Plce1	C	A	19: 38,760,091	N1755K	probably damaging	Het
Pld1	C	A	3: 28,025,320	R90S	probably damaging	Het
Pnpla7	C	A	2: 25,041,019	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Ppm1d	A	G	11: 85,311,783	E104G	probably damaging	Het
Ppm1e	A	T	11: 87,358,551	L118Q	possibly damaging	Het
Ppp1r42	A	G	1: 9,999,435	L134P	probably damaging	Het
Prpf8	A	G	11: 75,495,799	D1038G	probably damaging	Het
Prss36	C	A	7: 127,936,699	R288L	probably damaging	Het
Prss51	T	A	14: 64,097,094	V108E	probably damaging	Het
Psma3	G	T	12: 70,974,765	G7W	probably damaging	Het
Psmc3ip	A	T	11: 101,092,604		probably null	Het
Qser1	T	C	2: 104,786,642	E1275G	probably damaging	Het
Rai2	A	G	X: 161,778,640	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241	V991D	possibly damaging	Het
Rcc2	A	T	4: 140,720,566	K468*	probably null	Het
S1pr2	T	C	9: 20,967,594	T313A	probably benign	Het
Sec1	C	A	7: 45,678,840	R261L	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Homo
Sgip1	G	A	4: 102,934,566	V362I	possibly damaging	Het
Shroom4	T	A	X: 6,585,469	C894*	probably null	Het
Slc12a9	A	T	5: 137,331,014	L126Q	probably damaging	Het
Slx4	A	G	16: 3,990,805	S424P	probably damaging	Het
Smg5	T	C	3: 88,351,293	S524P	probably damaging	Het
Sncaip	A	G	18: 52,885,041	D418G	probably damaging	Het
Soga3	A	G	10: 29,196,770	D686G	probably benign	Het
Spata31d1b	C	A	13: 59,718,218	T1060K	possibly damaging	Het
Spink6	A	G	18: 44,082,280	T66A	probably damaging	Het
Sppl2c	T	A	11: 104,187,301	I309K	possibly damaging	Het
Stk39	T	A	2: 68,410,039	D116V	probably damaging	Het
Supv3l1	A	T	10: 62,430,596	N600K	possibly damaging	Het
Svep1	T	C	4: 58,104,545	K1226R	possibly damaging	Het
Syne1	C	T	10: 5,041,494	V557I	probably benign	Het
Tas2r117	G	T	6: 132,803,154	S85I	probably benign	Het
Tep1	A	T	14: 50,868,317	L82Q	probably damaging	Het
Tfb2m	A	C	1: 179,545,872		probably null	Het
Tm9sf1	C	T	14: 55,642,844	G32D	possibly damaging	Het
Tpd52	A	T	3: 8,931,195		probably null	Het
Trappc8	A	T	18: 20,833,062		probably null	Het
Trbv30	A	G	6: 41,281,920	T88A	probably benign	Het
Trim40	T	A	17: 36,888,865	N107I	probably damaging	Het
Trim80	A	T	11: 115,448,017	T558S	probably benign	Het
Ttn	A	G	2: 76,878,348		probably benign	Het
Vav3	A	G	3: 109,527,475	M441V	possibly damaging	Het
Vmn1r42	T	A	6: 89,845,384	I68F	probably damaging	Het
Vmn2r118	C	T	17: 55,611,565	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,509,510	M76L	probably benign	Het
Vwa7	G	T	17: 35,024,926		probably null	Het
Xndc1	T	C	7: 102,082,188	V378A	probably benign	Het
Zc3h12d	A	T	10: 7,853,250	D126V	probably damaging	Het
Zc3h13	A	G	14: 75,343,619	N1682S	probably benign	Het
Zc3h15	T	C	2: 83,660,230	I236T	possibly damaging	Het
Zfp13	A	T	17: 23,581,182	I34N	probably damaging	Het
Zfp169	A	T	13: 48,490,275	C459S	possibly damaging	Het
Zfyve28	A	G	5: 34,216,967	C568R	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
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'- ACTGGAGATTCTCACCACTCTG -3'
(R):5'- GCACAGGCTTATGGAACACAATC -3'

Sequencing Primer
(F):5'- GGAGATTCTCACCACTCTGCATGAG -3'
(R):5'- AGGCAAAGATTCCACCAG -3'

Posted On

2016-08-04