Mutagenetix > Incidental Mutation

Incidental Mutation 'R5891:Tcf7l1'

457174

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

044092-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72603354-72766028 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 72614034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115060 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069536

SMART Domains

Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799

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

noncoding transcript
Transcript: ENSMUST00000081929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101278

Predicted Effect

probably benign
Transcript: ENSMUST00000114053

SMART Domains

Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195777

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

96% (85/89)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	T	16: 56,426,496 (GRCm39)	T504S	probably damaging	Het
Adamtsl4	C	A	3: 95,589,623 (GRCm39)	R387L	possibly damaging	Het
Adgb	G	A	10: 10,253,591 (GRCm39)	Q1224*	probably null	Het
Ankrd40	T	A	11: 94,225,689 (GRCm39)	F240Y	probably damaging	Het
Asnsd1	A	T	1: 53,387,136 (GRCm39)	Y164N	probably benign	Het
Atf7ip	A	T	6: 136,536,975 (GRCm39)	E69D	possibly damaging	Het
Atm	T	C	9: 53,408,459 (GRCm39)	T1129A	probably benign	Het
Atosa	C	G	9: 74,911,668 (GRCm39)	C46W	probably damaging	Het
AU021092	T	C	16: 5,029,995 (GRCm39)	D340G	probably benign	Het
Baz2a	T	A	10: 127,957,191 (GRCm39)	I978N	probably damaging	Het
BC034090	T	C	1: 155,108,793 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,116,204 (GRCm39)	L830P	probably damaging	Het
Bicral	T	C	17: 47,112,155 (GRCm39)	N1015S	probably benign	Het
Ccdc9b	T	A	2: 118,591,864 (GRCm39)	D92V	probably damaging	Het
Ceacam3	C	A	7: 16,885,718 (GRCm39)	T107N	probably damaging	Het
Cep83	T	C	10: 94,561,537 (GRCm39)	V109A	probably benign	Het
Ces1e	A	G	8: 93,929,894 (GRCm39)	V463A	possibly damaging	Het
Ciao1	A	G	2: 127,089,054 (GRCm39)	V55A	probably benign	Het
Col19a1	T	C	1: 24,328,806 (GRCm39)	E900G	probably damaging	Het
Commd3	A	G	2: 18,678,626 (GRCm39)		probably benign	Het
Coro1c	A	G	5: 113,988,872 (GRCm39)	I157T	probably damaging	Het
Cplane1	A	G	15: 8,218,073 (GRCm39)	I828V	probably benign	Het
Ctso	T	A	3: 81,861,561 (GRCm39)	F311L	probably benign	Het
Cxcl10	A	G	5: 92,496,083 (GRCm39)		probably benign	Het
Daam1	C	A	12: 71,990,923 (GRCm39)	T179N	unknown	Het
Ddx24	T	C	12: 103,390,317 (GRCm39)	K225E	probably damaging	Het
Dnajc16	T	C	4: 141,502,703 (GRCm39)	T278A	probably benign	Het
Dnajc2	A	T	5: 21,966,709 (GRCm39)	N345K	possibly damaging	Het
Dnpep	G	T	1: 75,288,456 (GRCm39)	Q395K	probably benign	Het
Dync1h1	T	C	12: 110,580,654 (GRCm39)		probably null	Het
Exoc1	A	G	5: 76,689,991 (GRCm39)	D177G	probably damaging	Het
Fam135b	C	T	15: 71,397,652 (GRCm39)	R136H	probably damaging	Het
Filip1	T	G	9: 79,727,142 (GRCm39)	L492F	possibly damaging	Het
Flvcr2	A	T	12: 85,843,002 (GRCm39)	I359F	possibly damaging	Het
Gmcl1	A	G	6: 86,684,425 (GRCm39)	W366R	probably damaging	Het
Htt	A	G	5: 35,028,167 (GRCm39)	T1808A	possibly damaging	Het
Ighv5-4	C	A	12: 113,561,249 (GRCm39)	R57L	probably damaging	Het
Il12rb2	A	T	6: 67,337,674 (GRCm39)	I69N	probably damaging	Het
Irf5	A	T	6: 29,529,424 (GRCm39)		probably benign	Het
Kif13b	T	G	14: 65,025,854 (GRCm39)		probably null	Het
Klkb1	T	A	8: 45,723,703 (GRCm39)	T571S	probably benign	Het
Mapkbp1	G	T	2: 119,854,413 (GRCm39)	E1337*	probably null	Het
Met	A	G	6: 17,491,538 (GRCm39)	D100G	probably benign	Het
Mgam	T	A	6: 40,721,282 (GRCm39)	D183E	probably benign	Het
Mrgprb13	T	C	7: 47,962,007 (GRCm39)		noncoding transcript	Het
Mrgprx2	T	C	7: 48,131,994 (GRCm39)	T275A	probably benign	Het
Mroh2a	C	A	1: 88,169,337 (GRCm39)	Q671K	possibly damaging	Het
Nckipsd	T	A	9: 108,685,808 (GRCm39)	S42R	probably damaging	Het
Nlrp12	T	A	7: 3,267,933 (GRCm39)		probably benign	Het
Or12j2	C	T	7: 139,916,513 (GRCm39)	T246I	probably benign	Het
Or12k8	T	A	2: 36,974,990 (GRCm39)	M257L	probably benign	Het
Or4k47	A	T	2: 111,451,778 (GRCm39)	L214M	probably damaging	Het
Or5p5	C	T	7: 107,414,387 (GRCm39)	P199S	probably damaging	Het
Otoa	T	A	7: 120,731,583 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,020,571 (GRCm39)	C233*	probably null	Het
Pikfyve	A	G	1: 65,241,896 (GRCm39)	Y212C	probably damaging	Het
Ptprq	T	A	10: 107,412,756 (GRCm39)	D1781V	possibly damaging	Het
Pttg1ip	A	G	10: 77,418,274 (GRCm39)		probably benign	Het
Rab6a	T	A	7: 100,288,454 (GRCm39)		probably null	Het
Rbm11	C	T	16: 75,395,725 (GRCm39)	A132V	possibly damaging	Het
Septin4	G	T	11: 87,479,750 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,575 (GRCm39)	E210G	probably damaging	Het
Sertad2	G	A	11: 20,597,884 (GRCm39)	G27S	probably benign	Het
Slco5a1	A	G	1: 13,060,626 (GRCm39)	F32L	probably benign	Het
Smad2	A	G	18: 76,433,046 (GRCm39)	E326G	probably damaging	Het
Sp9	T	A	2: 73,104,595 (GRCm39)	L383Q	probably damaging	Het
Stx11	T	C	10: 12,817,559 (GRCm39)	N55S	probably damaging	Het
Tbc1d15	T	A	10: 115,056,213 (GRCm39)	Q253L	probably benign	Het
Tdrd9	T	A	12: 112,009,153 (GRCm39)	S1020T	probably damaging	Het
Tead3	A	T	17: 28,560,339 (GRCm39)	D88E	probably damaging	Het
Tnrc18	A	G	5: 142,800,926 (GRCm39)	S11P	probably damaging	Homo
Trpc3	G	T	3: 36,725,171 (GRCm39)	D268E	probably damaging	Het
Ttn	A	G	2: 76,576,085 (GRCm39)	V23190A	possibly damaging	Het
Ubr4	T	A	4: 139,135,937 (GRCm39)	Y908*	probably null	Het
Urb2	G	T	8: 124,757,595 (GRCm39)	V1101L	possibly damaging	Het
Usp9y	A	T	Y: 1,341,535 (GRCm39)	D1375E	probably benign	Het
Zcchc7	T	C	4: 44,895,838 (GRCm39)	L262P	probably damaging	Het
Zdhhc7	T	A	8: 120,811,639 (GRCm39)	H188L	probably benign	Het
Zfp518a	T	A	19: 40,900,877 (GRCm39)	C269S	probably damaging	Het
Zfp933	T	C	4: 147,911,231 (GRCm39)	K90E	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
R4433:Tcf7l1	UTSW	6	72,765,752 (GRCm39)	missense	probably damaging	0.96
R4671:Tcf7l1	UTSW	6	72,626,161 (GRCm39)	missense	probably damaging	0.99
R5262:Tcf7l1	UTSW	6	72,613,449 (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'- GGCAGGCTGTGTAACTTAGTC -3'
(R):5'- TGCAGCTGGTTTCTGATCAG -3'

Sequencing Primer
(F):5'- GTAACTTAGTCTGCTCGATGACCAC -3'
(R):5'- CAGCTGGTTTCTGATCAGGTTAAG -3'

Posted On

2017-02-15