Mutagenetix > Incidental Mutations

Incidental Mutation 'R8447:Tcf20'

654574

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: 0.649) question?

Stock #

R8447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82853236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1338 (S1338F)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

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

AlphaFold

Q9EPQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048966
AA Change: S1338F

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: S1338F

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

possibly damaging
Transcript: ENSMUST00000109510
AA Change: S1338F

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: S1338F

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: 99.6%
20x: 98.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	C	5: 8,907,278	T136P	probably damaging	Het
Abcc3	A	T	11: 94,364,060	L639Q	possibly damaging	Het
Adam10	T	A	9: 70,748,118	N289K	probably damaging	Het
Akap12	A	G	10: 4,356,289	E1138G	probably benign	Het
Akr1e1	C	A	13: 4,598,794	L167F	probably damaging	Het
Cars	T	C	7: 143,570,029	K506E	possibly damaging	Het
Cfap46	C	A	7: 139,680,986	R65S	possibly damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Clec16a	C	A	16: 10,741,623	T920K	probably benign	Het
Coro2b	C	T	9: 62,426,560	E351K	probably damaging	Het
Diablo	T	C	5: 123,517,766	E163G	probably damaging	Het
Dnah6	A	G	6: 73,138,774	L1547P	probably damaging	Het
Dynll2	G	T	11: 87,983,893	D37E	probably benign	Het
Eml4	A	T	17: 83,448,227	Q408L	probably damaging	Het
F2rl3	T	C	8: 72,763,335	*397R	probably null	Het
Fance	T	A	17: 28,326,181	L127Q	unknown	Het
Fat4	T	C	3: 38,979,675	V2492A	possibly damaging	Het
Gatsl3	T	C	11: 4,220,165	V81A	probably damaging	Het
Ggta1	C	T	2: 35,402,561	D245N	probably damaging	Het
Gli1	T	C	10: 127,330,237	N1049S	probably benign	Het
Grin2c	A	G	11: 115,257,389	V354A	probably benign	Het
Kank4	T	A	4: 98,778,492	I573F	probably damaging	Het
Kdm3a	A	G	6: 71,611,897	V376A	probably benign	Het
Kndc1	T	C	7: 139,901,205	V69A	probably damaging	Het
Lcmt1	T	A	7: 123,421,602	L250Q	probably damaging	Het
Ldhb	A	T	6: 142,498,630	V99D	probably damaging	Het
Lepr	T	C	4: 101,814,491	V904A	probably benign	Het
Lipe	G	T	7: 25,380,592	N710K	probably damaging	Het
Med1	C	A	11: 98,169,414	D230Y	probably damaging	Het
Mpv17l	T	A	16: 13,941,000	I96K	probably benign	Het
Obox1	A	T	7: 15,555,616	Q110L	probably damaging	Het
Olfr1101	T	A	2: 86,988,541	I212F	probably benign	Het
Olfr1281	T	A	2: 111,328,962	I181N	possibly damaging	Het
Olfr1289	T	A	2: 111,483,756	Y137N	probably damaging	Het
Olfr1410	C	A	1: 92,607,772		probably benign	Het
Olfr745	T	C	14: 50,642,551	V84A	probably benign	Het
Olfr809	T	G	10: 129,776,502	M211R	possibly damaging	Het
Pah	T	C	10: 87,581,965		probably null	Het
Pate1	A	T	9: 35,686,335	N40K	probably benign	Het
Pclo	C	A	5: 14,681,409	D182E		Het
Prl7a2	A	T	13: 27,665,958	S44T	possibly damaging	Het
Pwp2	T	A	10: 78,172,039	D894V	probably benign	Het
Ripor2	T	A	13: 24,723,788	L1014Q	probably damaging	Het
Rpe	G	A	1: 66,701,029		probably null	Het
Sh2d3c	A	G	2: 32,752,659	T706A	probably damaging	Het
Slc17a2	T	C	13: 23,822,326	F445S	possibly damaging	Het
Spata20	C	A	11: 94,482,254	L515F	probably damaging	Het
Tm9sf2	C	A	14: 122,139,768	P236Q	probably damaging	Het
Tmem135	T	C	7: 89,154,032	Y311C	probably damaging	Het
Tmem245	T	C	4: 56,906,261	Q548R	probably benign	Het
Tmem94	G	A	11: 115,797,870	R1301H	probably benign	Het
Tmem94	G	T	11: 115,797,197	C1190F	possibly damaging	Het
Zp3	G	A	5: 135,984,390	G192E	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
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
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCCAGTGTGACTGTGTCTCCC -3'
(R):5'- TTTAATCATGCGAAGGCGGG -3'

Sequencing Primer
(F):5'- CCAGCCTCAGCACTGTTTG -3'
(R):5'- CGAAGGCGGGTTCGTTC -3'

Posted On

2020-10-20