Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Tcf7l1'

67548

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

038912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0731 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

72603354-72766028 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 72765252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 126 (P126Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109687 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069536
AA Change: P126Q

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069403
Gene: ENSMUSG00000055799
AA Change: P126Q

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: P126Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109687
Gene: ENSMUSG00000055799
AA Change: P126Q

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
AA Change: P36Q

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115060
Gene: ENSMUSG00000055799
AA Change: P36Q

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

Meta Mutation Damage Score

0.2031

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AAACAAGTTCGGCCCAGGATCAG -3'
(R):5'- AGGTAAGTGCCTTCTCCGTCAGTC -3'

Sequencing Primer
(F):5'- CAGGATCAGCTCAGGCAG -3'
(R):5'- CTCTCCAGCCATCAGCG -3'

Posted On

2013-09-03