Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Tcf7l1'

328695

Institutional Source

Beutler Lab

Gene Symbol

Tcf7l1

Ensembl Gene

ENSMUSG00000055799

Gene Name

transcription factor 7 like 1 (T cell specific, HMG box)

Synonyms

Tcf3

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72603354-72766028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 72765752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 62 (E62Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069403 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069536] [ENSMUST00000114053] [ENSMUST00000149446]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069536
AA Change: E62Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799
AA Change: E62Q

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	248	1.3e-77	PFAM
HMG	342	412	3.47e-21	SMART
low complexity region	418	426	N/A	INTRINSIC
low complexity region	427	438	N/A	INTRINSIC
low complexity region	475	494	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
low complexity region	536	545	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114053
AA Change: E62Q

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799
AA Change: E62Q

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	262	6.9e-91	PFAM
HMG	356	426	3.47e-21	SMART
low complexity region	432	440	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
low complexity region	489	508	N/A	INTRINSIC
low complexity region	524	544	N/A	INTRINSIC
low complexity region	550	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149446

SMART Domains

Protein: ENSMUSP00000115060
Gene: ENSMUSG00000055799

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	70	9e-5	PFAM

Meta Mutation Damage Score

0.1868

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]
PHENOTYPE: Animals homozygous for a targeted mutation exhibit severe embryological defects particularly affecting the cardiovascular system, nervous system, and digestive system. No homozygous embryos survive beyond E11. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp13a5	A	T	16: 29,100,842 (GRCm39)	M649K	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Tcf7l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02517:Tcf7l1	APN	6	72,606,966 (GRCm39)	missense	probably benign	0.00
IGL03167:Tcf7l1	APN	6	72,609,979 (GRCm39)	missense	possibly damaging	0.75
R0731:Tcf7l1	UTSW	6	72,765,252 (GRCm39)	missense	possibly damaging	0.83
R2679:Tcf7l1	UTSW	6	72,604,403 (GRCm39)	missense	probably benign	0.43
R2887:Tcf7l1	UTSW	6	72,609,071 (GRCm39)	missense	probably damaging	1.00
R4015:Tcf7l1	UTSW	6	72,613,382 (GRCm39)	intron	probably benign
R4671:Tcf7l1	UTSW	6	72,626,161 (GRCm39)	missense	probably damaging	0.99
R5262:Tcf7l1	UTSW	6	72,613,449 (GRCm39)	intron	probably benign
R5891:Tcf7l1	UTSW	6	72,614,034 (GRCm39)	intron	probably benign
R6767:Tcf7l1	UTSW	6	72,608,275 (GRCm39)	missense	probably damaging	0.98
R7255:Tcf7l1	UTSW	6	72,604,330 (GRCm39)	splice site	probably null
R8206:Tcf7l1	UTSW	6	72,604,395 (GRCm39)	missense	probably damaging	1.00
R8996:Tcf7l1	UTSW	6	72,765,563 (GRCm39)	missense	possibly damaging	0.69
R9069:Tcf7l1	UTSW	6	72,610,259 (GRCm39)	missense	probably damaging	1.00
R9193:Tcf7l1	UTSW	6	72,611,205 (GRCm39)	missense	probably damaging	0.98
R9439:Tcf7l1	UTSW	6	72,765,740 (GRCm39)	missense	probably damaging	0.99
R9530:Tcf7l1	UTSW	6	72,604,687 (GRCm39)	missense	probably benign	0.02
R9778:Tcf7l1	UTSW	6	72,608,226 (GRCm39)	missense	probably damaging	1.00
X0027:Tcf7l1	UTSW	6	72,765,722 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATAGTCGCGCGGCTTCTG -3'
(R):5'- TCAAAACTTTGTCGCCGCAG -3'

Sequencing Primer
(F):5'- GCGCGGCTTCTGGAAAG -3'
(R):5'- GCAGCGGCCAAACGATC -3'

Posted On

2015-07-21