Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Tcf7'

256987

Institutional Source

Beutler Lab

Gene Symbol

Tcf7

Ensembl Gene

ENSMUSG00000000782

Gene Name

transcription factor 7, T cell specific

Synonyms

TCF-1, T cell factor-1, T-cell factor 1, Tcf1

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R2938 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52143198-52174158 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 52173610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086844] [ENSMUST00000109071]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086844

SMART Domains

Protein: ENSMUSP00000084055
Gene: ENSMUSG00000000782

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	100	2.2e-23	PFAM
low complexity region	119	130	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC
HMG	187	257	2.86e-22	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109071

SMART Domains

Protein: ENSMUSP00000104699
Gene: ENSMUSG00000000782

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	100	5.3e-23	PFAM
low complexity region	119	130	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC
HMG	187	257	2.86e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150973

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: This gene encodes a transcription factor which is a member of the T-cell specific transcription factor family. The encoded protein is distinct from the hepatic transcription factor, transcription factor 1, which is also referred to by the symbol Tcf1. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice have defects in T cell development leading to decreased numbers of T cells in the periphery. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Uck1	GCCAACACC	GCC	2: 32,146,088 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	probably benign	Het

Other mutations in Tcf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01673:Tcf7	APN	11	52,147,823 (GRCm39)	missense	probably damaging	1.00
IGL02558:Tcf7	APN	11	52,144,797 (GRCm39)	splice site	probably benign
R1854:Tcf7	UTSW	11	52,147,891 (GRCm39)	missense	probably benign	0.00
R2937:Tcf7	UTSW	11	52,173,610 (GRCm39)	splice site	probably null
R3911:Tcf7	UTSW	11	52,173,793 (GRCm39)	start gained	probably benign
R4433:Tcf7	UTSW	11	52,152,442 (GRCm39)	missense	probably benign
R5796:Tcf7	UTSW	11	52,152,354 (GRCm39)	missense	probably benign	0.31
R6443:Tcf7	UTSW	11	52,144,765 (GRCm39)	missense	probably benign	0.00
R8798:Tcf7	UTSW	11	52,151,421 (GRCm39)	missense	probably damaging	0.96
R9785:Tcf7	UTSW	11	52,173,773 (GRCm39)	start gained	probably benign
R9787:Tcf7	UTSW	11	52,173,773 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTATAAAGGTCAGGGCACC -3'
(R):5'- CACTGGTGAATGAGTCCGAAG -3'

Sequencing Primer
(F):5'- CGGAAGTGACTCCAGCTCAG -3'
(R):5'- CGTCCGAGTACATGGAGAAGCC -3'

Posted On

2014-12-31