Mutagenetix > Incidental Mutation

Incidental Mutation 'R6688:Tcf20'

527873

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

044806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.775) question?

Stock #

R6688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82692637-82872073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82738736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 905 (I905T)

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: I905T

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: I905T

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: I905T

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: I905T

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

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (33/33)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1	A	T	13: 45,721,147 (GRCm39)	H249Q	probably damaging	Het
Cd22	A	C	7: 30,572,389 (GRCm39)	S362A	possibly damaging	Het
Cep120	G	A	18: 53,857,608 (GRCm39)	P286S	probably benign	Het
Ces1g	G	A	8: 94,033,600 (GRCm39)	P441S	possibly damaging	Het
Ces2h	A	G	8: 105,744,472 (GRCm39)	I316V	probably benign	Het
Cntnap5c	T	A	17: 58,600,899 (GRCm39)	D747E	possibly damaging	Het
Cwf19l2	T	C	9: 3,450,015 (GRCm39)	V572A	probably benign	Het
Cyb5rl	C	T	4: 106,931,102 (GRCm39)	A128V	probably damaging	Het
Dnttip1	T	C	2: 164,607,081 (GRCm39)	Y241H	probably damaging	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Golga4	A	G	9: 118,343,278 (GRCm39)	T11A	possibly damaging	Het
Ip6k2	C	A	9: 108,683,210 (GRCm39)	T440K	probably benign	Het
Kif5c	A	G	2: 49,578,749 (GRCm39)	N126D	probably benign	Het
Mdn1	T	A	4: 32,774,041 (GRCm39)	F5551I	possibly damaging	Het
Myh11	A	G	16: 14,023,417 (GRCm39)	L1587P	probably damaging	Het
Nherf4	C	T	9: 44,159,527 (GRCm39)		probably null	Het
Nop53	A	G	7: 15,679,779 (GRCm39)	V67A	possibly damaging	Het
Or1o1	G	A	17: 37,716,796 (GRCm39)	R119H	probably benign	Het
Paxip1	T	C	5: 27,949,135 (GRCm39)	T1045A	probably benign	Het
Plg	A	T	17: 12,610,732 (GRCm39)	H215L	probably damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rapgef2	T	A	3: 78,976,435 (GRCm39)	Q1307L	probably benign	Het
Serpini2	T	C	3: 75,166,870 (GRCm39)	E129G	possibly damaging	Het
Stx1b	C	T	7: 127,407,068 (GRCm39)	R209Q	probably damaging	Het
Tmem252	G	A	19: 24,651,463 (GRCm39)	A11T	probably benign	Het
Tpst2	A	G	5: 112,455,623 (GRCm39)	N54S	probably benign	Het
Usp31	T	C	7: 121,277,553 (GRCm39)	S269G	probably benign	Het
Wasf1	T	C	10: 40,802,616 (GRCm39)		probably null	Het
Zfp429	A	T	13: 67,544,249 (GRCm39)	V58D	probably damaging	Het
Zfp958	A	G	8: 4,678,940 (GRCm39)	T322A	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
R2152:Tcf20	UTSW	15	82,739,803 (GRCm39)	missense	probably damaging	1.00
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
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'- GGCAGTGGTCTCCAGATTTC -3'
(R):5'- CCTGTTGGAAAATCCCCACTGG -3'

Sequencing Primer
(F):5'- GGTCTCCAGATTTCTTGTTGAAAC -3'
(R):5'- GGGACCATGGGAAAGGAAGTC -3'

Posted On

2018-07-23