Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Tcf20'

234443

Institutional Source

Beutler Lab

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

SPBP, stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.692) question?

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82692637-82872073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82739803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 549 (D549E)

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: D549E

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

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: D549E

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: D549E

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

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: D549E

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,141,565 (GRCm39)	Y8F	probably benign	Het
Acy1	T	C	9: 106,312,816 (GRCm39)	E175G	probably damaging	Het
Add2	T	C	6: 86,075,580 (GRCm39)	L243P	probably damaging	Het
Adsl	A	G	15: 80,851,863 (GRCm39)	D407G	probably damaging	Het
Afg3l1	T	G	8: 124,221,575 (GRCm39)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,953,473 (GRCm39)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,001,487 (GRCm39)	T108A	probably benign	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bbs12	G	T	3: 37,375,309 (GRCm39)	E586*	probably null	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Bid	A	T	6: 120,877,215 (GRCm39)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,102,055 (GRCm39)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm39)	T424K	probably benign	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,183,498 (GRCm39)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,337,363 (GRCm39)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,676,907 (GRCm39)		probably null	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,709,351 (GRCm39)		probably null	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dnah3	C	T	7: 119,551,236 (GRCm39)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,026,149 (GRCm39)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,356,048 (GRCm39)	D528G	probably damaging	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,314,777 (GRCm39)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,125,811 (GRCm39)	D328V	probably benign	Het
Foxp1	A	G	6: 98,993,502 (GRCm39)	L134P	probably damaging	Het
Frem2	G	A	3: 53,424,450 (GRCm39)	R2996*	probably null	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,747,888 (GRCm39)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gpc6	G	T	14: 117,163,504 (GRCm39)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,560,390 (GRCm39)		probably null	Het
H2-Q2	T	C	17: 35,564,252 (GRCm39)		probably null	Het
Hapln2	C	A	3: 87,930,920 (GRCm39)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm39)	E210*	probably null	Het
Hpse	T	A	5: 100,839,269 (GRCm39)	K360*	probably null	Het
Iqcj	A	T	3: 67,962,643 (GRCm39)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,603,172 (GRCm39)		probably benign	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,285,546 (GRCm39)	A356D	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Micu1	G	T	10: 59,699,110 (GRCm39)	M468I	probably benign	Het
Mrc1	A	G	2: 14,332,675 (GRCm39)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,185,295 (GRCm39)	E849K	probably damaging	Het
Myom3	G	T	4: 135,530,544 (GRCm39)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,746,461 (GRCm39)	Y779*	probably null	Het
Or13p5	C	T	4: 118,592,446 (GRCm39)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,179,003 (GRCm39)	I142V	probably benign	Het
Or51a39	G	T	7: 102,362,788 (GRCm39)	H277Q	probably benign	Het
Or52j3	A	T	7: 102,835,847 (GRCm39)	D13V	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,706,943 (GRCm39)	I91F	probably benign	Het
Or9s23	T	C	1: 92,501,630 (GRCm39)	S246P	probably damaging	Het
Otop1	T	A	5: 38,460,194 (GRCm39)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phc2	A	G	4: 128,638,859 (GRCm39)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,285,908 (GRCm39)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,247,112 (GRCm39)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,488,713 (GRCm39)	I295F	probably benign	Het
Popdc2	A	G	16: 38,183,482 (GRCm39)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,008,826 (GRCm39)	N684K	probably damaging	Het
Prpf4b	T	A	13: 35,084,402 (GRCm39)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,670 (GRCm39)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,674,562 (GRCm39)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rb1	T	C	14: 73,526,165 (GRCm39)	T169A	probably benign	Het
Rcc2	T	C	4: 140,444,428 (GRCm39)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,778,699 (GRCm39)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,851,441 (GRCm39)	R398H	probably damaging	Het
Selenoo	A	G	15: 88,983,485 (GRCm39)	M509V	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,210,095 (GRCm39)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,750,420 (GRCm39)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,218,707 (GRCm39)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,181,779 (GRCm39)		probably null	Het
Stat5a	C	A	11: 100,764,916 (GRCm39)	T213N	probably benign	Het
Stt3a	A	T	9: 36,659,292 (GRCm39)	V349D	probably damaging	Het
Thbs2	T	A	17: 14,893,471 (GRCm39)	D903V	probably damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,834,039 (GRCm39)	N241K	probably benign	Het
Tmem260	G	T	14: 48,715,066 (GRCm39)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 51,933,742 (GRCm39)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,969,625 (GRCm39)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,524,936 (GRCm39)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,752,338 (GRCm39)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,635,944 (GRCm39)	R426L	probably damaging	Het
Ttn	A	C	2: 76,570,482 (GRCm39)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,506,936 (GRCm39)	V792A	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82,739,096 (GRCm39)	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82,741,343 (GRCm39)	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82,736,957 (GRCm39)	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82,740,276 (GRCm39)	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82,738,101 (GRCm39)	missense	probably benign
IGL01670:Tcf20	APN	15	82,739,564 (GRCm39)	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82,741,361 (GRCm39)	missense	probably damaging	1.00
IGL01767:Tcf20	APN	15	82,740,209 (GRCm39)	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82,737,167 (GRCm39)	missense	probably benign
IGL01834:Tcf20	APN	15	82,739,898 (GRCm39)	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82,739,356 (GRCm39)	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82,737,660 (GRCm39)	missense	probably benign	0.28
IGL02731:Tcf20	APN	15	82,737,438 (GRCm39)	missense	probably benign	0.00
IGL02739:Tcf20	APN	15	82,740,281 (GRCm39)	missense	probably damaging	1.00
IGL03058:Tcf20	APN	15	82,736,205 (GRCm39)	missense	probably damaging	0.96
PIT4131001:Tcf20	UTSW	15	82,735,785 (GRCm39)	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82,736,501 (GRCm39)	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82,739,286 (GRCm39)	missense	probably benign
R0732:Tcf20	UTSW	15	82,736,504 (GRCm39)	missense	probably benign	0.07
R1502:Tcf20	UTSW	15	82,739,777 (GRCm39)	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82,739,693 (GRCm39)	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82,736,978 (GRCm39)	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82,741,431 (GRCm39)	nonsense	probably null
R2173:Tcf20	UTSW	15	82,738,893 (GRCm39)	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82,735,886 (GRCm39)	missense	probably benign
R4049:Tcf20	UTSW	15	82,737,630 (GRCm39)	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82,739,185 (GRCm39)	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82,735,928 (GRCm39)	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82,738,400 (GRCm39)	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82,740,804 (GRCm39)	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82,740,386 (GRCm39)	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82,740,582 (GRCm39)	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82,740,156 (GRCm39)	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82,739,910 (GRCm39)	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82,736,158 (GRCm39)	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82,740,400 (GRCm39)	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82,737,443 (GRCm39)	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82,735,984 (GRCm39)	nonsense	probably null
R6089:Tcf20	UTSW	15	82,737,409 (GRCm39)	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82,736,187 (GRCm39)	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82,739,081 (GRCm39)	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82,736,861 (GRCm39)	missense	probably benign
R6688:Tcf20	UTSW	15	82,738,736 (GRCm39)	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82,738,883 (GRCm39)	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82,740,279 (GRCm39)	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82,737,690 (GRCm39)	missense	probably benign
R7486:Tcf20	UTSW	15	82,737,935 (GRCm39)	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82,739,477 (GRCm39)	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82,735,766 (GRCm39)	missense	possibly damaging	0.92
R8090:Tcf20	UTSW	15	82,740,207 (GRCm39)	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82,737,138 (GRCm39)	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82,737,606 (GRCm39)	nonsense	probably null
R8259:Tcf20	UTSW	15	82,736,474 (GRCm39)	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82,736,877 (GRCm39)	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82,737,437 (GRCm39)	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82,740,152 (GRCm39)	missense	probably benign	0.07
R8728:Tcf20	UTSW	15	82,739,158 (GRCm39)	missense	probably damaging	1.00
R8829:Tcf20	UTSW	15	82,739,915 (GRCm39)	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82,736,726 (GRCm39)	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82,740,705 (GRCm39)	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82,740,705 (GRCm39)	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82,736,897 (GRCm39)	missense	probably benign	0.11
R9648:Tcf20	UTSW	15	82,739,876 (GRCm39)	missense	probably damaging	1.00
R9675:Tcf20	UTSW	15	82,740,986 (GRCm39)	missense	probably damaging	1.00
R9729:Tcf20	UTSW	15	82,736,037 (GRCm39)	missense	probably benign	0.25
RF019:Tcf20	UTSW	15	82,735,794 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATGTGTCCTTAGCACCTGG -3'
(R):5'- CTTTGAGTAGTCAAGTGGCCAATC -3'

Sequencing Primer
(F):5'- TGTCCTTAGCACCTGGAGAGG -3'
(R):5'- GTCAAGTGGCCAATCTTCCTAATAC -3'

Posted On

2014-10-01