Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02517:Tcf7l1'

296819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf7l1

Ensembl Gene

ENSMUSG00000055799

Gene Name

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

Synonyms

Tcf3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02517

Quality Score

Status

Chromosome

Chromosomal Location

72603354-72766028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72606966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 447 (S447P)

Ref Sequence

ENSEMBL: ENSMUSP00000109687 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069536
AA Change: S433P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799
AA Change: S433P

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

probably benign
Transcript: ENSMUST00000114053
AA Change: S447P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799
AA Change: S447P

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

noncoding transcript
Transcript: ENSMUST00000141743

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

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	T	G	4: 49,380,647 (GRCm39)	M244L	possibly damaging	Het
Acnat2	A	T	4: 49,380,639 (GRCm39)	C228*	probably null	Het
Adam24	T	C	8: 41,133,218 (GRCm39)	S229P	probably damaging	Het
Alpk3	T	C	7: 80,727,643 (GRCm39)	S258P	probably benign	Het
Atad2b	A	G	12: 5,068,037 (GRCm39)	T1012A	probably benign	Het
Bltp1	A	G	3: 37,013,017 (GRCm39)	E1899G	probably damaging	Het
C4b	A	T	17: 34,953,382 (GRCm39)	S1034T	probably benign	Het
Cd300ld2	T	A	11: 114,901,249 (GRCm39)	H277L	possibly damaging	Het
Chrna4	C	T	2: 180,670,926 (GRCm39)	V277I	probably benign	Het
Col3a1	A	G	1: 45,364,963 (GRCm39)		probably null	Het
Dpep2	C	T	8: 106,715,388 (GRCm39)	V369M	probably damaging	Het
Eml2	T	A	7: 18,940,055 (GRCm39)	N815K	probably damaging	Het
Enpp3	A	G	10: 24,685,746 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,390,413 (GRCm39)	V86A	probably benign	Het
Hivep2	C	T	10: 14,006,926 (GRCm39)	P1175S	probably benign	Het
Hydin	T	C	8: 111,293,604 (GRCm39)	I3517T	probably benign	Het
Ift172	T	A	5: 31,410,992 (GRCm39)		probably null	Het
Jmy	A	G	13: 93,589,316 (GRCm39)	I647T	probably benign	Het
Kifap3	T	A	1: 163,653,440 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,670,915 (GRCm39)		probably null	Het
Lipa	A	C	19: 34,471,522 (GRCm39)	I351S	possibly damaging	Het
Ltbp2	G	T	12: 84,832,091 (GRCm39)	A1631D	probably benign	Het
Masp2	A	G	4: 148,698,477 (GRCm39)	I519M	probably damaging	Het
Mfsd6	A	G	1: 52,702,436 (GRCm39)		probably benign	Het
Numa1	T	G	7: 101,661,216 (GRCm39)	D1846E	probably benign	Het
Oog3	A	T	4: 143,885,920 (GRCm39)	I226K	probably damaging	Het
Or11h6	A	G	14: 50,880,658 (GRCm39)	T301A	probably benign	Het
Or5an6	A	T	19: 12,372,265 (GRCm39)	I213F	probably benign	Het
Or8b3b	T	C	9: 38,584,209 (GRCm39)	Y177C	probably damaging	Het
Or8g53	T	G	9: 39,683,800 (GRCm39)	T99P	probably damaging	Het
Or9s13	A	T	1: 92,548,183 (GRCm39)	Y185F	probably benign	Het
Pkdcc	T	C	17: 83,531,295 (GRCm39)	S435P	probably damaging	Het
Ppm1g	A	G	5: 31,365,425 (GRCm39)	Y70H	probably damaging	Het
Prcc	C	T	3: 87,776,984 (GRCm39)	S330N	probably damaging	Het
Ror2	A	T	13: 53,272,876 (GRCm39)	L251Q	probably damaging	Het
Scn11a	A	G	9: 119,621,464 (GRCm39)	L651P	probably damaging	Het
Skint6	A	T	4: 112,805,737 (GRCm39)		probably benign	Het
Slc23a4	A	G	6: 34,931,917 (GRCm39)	F186L	probably benign	Het
Slc30a8	A	T	15: 52,198,530 (GRCm39)	D325V	probably benign	Het
Son	C	T	16: 91,452,099 (GRCm39)	T282M	possibly damaging	Het
Tas2r118	A	T	6: 23,969,891 (GRCm39)	F57I	probably damaging	Het
Thsd1	T	A	8: 22,733,454 (GRCm39)	V167E	probably damaging	Het
Tle3	T	C	9: 61,322,063 (GRCm39)	V696A	probably damaging	Het
Tmem67	A	T	4: 12,069,463 (GRCm39)	I405K	possibly damaging	Het
Tmem71	A	C	15: 66,413,466 (GRCm39)	V202G	probably benign	Het
Trim6	T	C	7: 103,881,564 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,721,535 (GRCm39)		probably benign	Het
Ubr1	A	C	2: 120,694,854 (GRCm39)	C1693G	possibly damaging	Het
Ush2a	G	A	1: 188,648,195 (GRCm39)	R4600H	probably damaging	Het
Vil1	A	G	1: 74,465,851 (GRCm39)	I547M	probably benign	Het
Vmn1r219	A	T	13: 23,347,266 (GRCm39)	I152L	probably benign	Het
Vmn1r26	A	G	6: 57,986,127 (GRCm39)	F21L	possibly damaging	Het
Vmn2r45	T	A	7: 8,486,185 (GRCm39)	K368*	probably null	Het
Vmn2r68	C	T	7: 84,871,153 (GRCm39)	W710*	probably null	Het
Zfp808	T	A	13: 62,321,032 (GRCm39)	*754R	probably null	Het
Zyg11b	C	T	4: 108,123,515 (GRCm39)	E151K	probably damaging	Het

Other mutations in Tcf7l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16