Mutagenetix > Incidental Mutation

Incidental Mutation 'R7382:Tcf7l2'

572840

Institutional Source

Beutler Lab

Gene Symbol

Tcf7l2

Ensembl Gene

ENSMUSG00000024985

Gene Name

transcription factor 7 like 2, T cell specific, HMG box

Synonyms

Tcf4, TCF4E, Tcf-4, mTcf-4B, mTcf-4E, TCF4B

MMRRC Submission

045464-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55730252-55922086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55915172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 461 (W461R)

Ref Sequence

ENSEMBL: ENSMUSP00000107291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041717] [ENSMUST00000061496] [ENSMUST00000111646] [ENSMUST00000111653] [ENSMUST00000111654] [ENSMUST00000111656] [ENSMUST00000111657] [ENSMUST00000111662] [ENSMUST00000111658] [ENSMUST00000111659] [ENSMUST00000153888]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041717

SMART Domains

Protein: ENSMUSP00000042950
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	1.5e-95	PFAM
HMG	326	396	1.16e-22	SMART
low complexity region	402	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061496

SMART Domains

Protein: ENSMUSP00000050081
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	1.7e-95	PFAM
HMG	326	396	1.16e-22	SMART
low complexity region	402	410	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111646

SMART Domains

Protein: ENSMUSP00000107273
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	76	2.4e-37	PFAM
HMG	166	236	1.16e-22	SMART
low complexity region	242	250	N/A	INTRINSIC
c-clamp	278	298	2.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111653

SMART Domains

Protein: ENSMUSP00000107280
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	2.1e-95	PFAM
HMG	331	401	1.16e-22	SMART
low complexity region	407	415	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111654

SMART Domains

Protein: ENSMUSP00000107281
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	259	4.2e-93	PFAM
HMG	345	415	1.16e-22	SMART
low complexity region	421	429	N/A	INTRINSIC
low complexity region	453	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111656

SMART Domains

Protein: ENSMUSP00000107283
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	1.5e-95	PFAM
HMG	326	396	1.16e-22	SMART
low complexity region	402	410	N/A	INTRINSIC
c-clamp	438	458	2.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111657

SMART Domains

Protein: ENSMUSP00000107284
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	2.1e-95	PFAM
HMG	326	396	1.16e-22	SMART
low complexity region	402	410	N/A	INTRINSIC
c-clamp	438	468	2.08e-14	SMART
low complexity region	471	498	N/A	INTRINSIC
low complexity region	519	539	N/A	INTRINSIC
low complexity region	564	578	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000111662
AA Change: W461R

SMART Domains

Protein: ENSMUSP00000107291
Gene: ENSMUSG00000024985
AA Change: W461R

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	1.7e-103	PFAM
HMG	326	396	1.16e-22	SMART
low complexity region	402	410	N/A	INTRINSIC
c-clamp	421	442	1.23e-2	SMART
c-clamp	446	476	1.35e-13	SMART
low complexity region	479	506	N/A	INTRINSIC
low complexity region	527	547	N/A	INTRINSIC
low complexity region	572	586	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111658

SMART Domains

Protein: ENSMUSP00000107286
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	259	4.5e-93	PFAM
HMG	350	420	1.16e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111659

SMART Domains

Protein: ENSMUSP00000107287
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	1.7e-96	PFAM
HMG	331	401	1.16e-22	SMART
low complexity region	407	415	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127233

SMART Domains

Protein: ENSMUSP00000123428
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	229	9.3e-98	PFAM
HMG	319	389	1.16e-22	SMART
low complexity region	395	403	N/A	INTRINSIC
c-clamp	414	434	2.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153888

SMART Domains

Protein: ENSMUSP00000118661
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	217	1.2e-64	PFAM
HMG	307	377	1.16e-22	SMART
low complexity region	383	391	N/A	INTRINSIC
c-clamp	402	432	5.29e-7	SMART

Meta Mutation Damage Score

0.2594

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
PHENOTYPE: Animals homozygous for a targeted mutation exhibit intestinal epithelia abnormalities and die shortly after birth. Mice heterozygous for some mutations display abnormalities in glucose homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 78,903,103 (GRCm39)	H404Q	probably damaging	Het
Aadacl2fm2	T	A	3: 59,651,037 (GRCm39)	M53K	probably benign	Het
Adam8	T	A	7: 139,570,020 (GRCm39)	T82S	possibly damaging	Het
Adgrl2	T	G	3: 148,522,919 (GRCm39)	Q435P		Het
Ahr	A	T	12: 35,554,514 (GRCm39)	M535K	probably damaging	Het
Akap6	A	G	12: 53,188,954 (GRCm39)	I2123V	probably benign	Het
Ankrd2	G	T	19: 42,033,411 (GRCm39)	G318C		Het
Ap4e1	T	A	2: 126,850,822 (GRCm39)		probably null	Het
Atp8a2	G	A	14: 59,892,043 (GRCm39)	P1102S	probably benign	Het
Cacna2d4	C	T	6: 119,216,048 (GRCm39)	S105F	probably damaging	Het
Cad	C	A	5: 31,233,173 (GRCm39)	P1872T	probably benign	Het
Catsperg1	A	G	7: 28,904,269 (GRCm39)	F251L	probably benign	Het
Ccdc18	C	A	5: 108,286,873 (GRCm39)	Q136K	probably damaging	Het
Cd163	A	G	6: 124,288,271 (GRCm39)		probably null	Het
Cd209d	A	T	8: 3,927,965 (GRCm39)	Y46*	probably null	Het
Cdk5rap2	A	T	4: 70,208,262 (GRCm39)	M728K	probably benign	Het
Cdon	A	G	9: 35,389,944 (GRCm39)	D866G	probably damaging	Het
Cenpl	A	G	1: 160,906,031 (GRCm39)	H135R	probably benign	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Clstn2	A	T	9: 97,681,451 (GRCm39)	L63*	probably null	Het
Cpeb4	A	G	11: 31,822,828 (GRCm39)	T181A	probably damaging	Het
Dlgap1	A	G	17: 71,094,169 (GRCm39)	E830G	probably damaging	Het
Endou	T	A	15: 97,616,807 (GRCm39)	K239*	probably null	Het
Ezh2	T	C	6: 47,528,770 (GRCm39)	N263S	possibly damaging	Het
Fbxw2	T	C	2: 34,697,314 (GRCm39)	D351G	probably benign	Het
Fer1l4	A	T	2: 155,862,669 (GRCm39)	Y1720*	probably null	Het
Fmo9	A	T	1: 166,491,229 (GRCm39)		probably null	Het
Frmpd1	T	A	4: 45,278,880 (GRCm39)	V535E	probably benign	Het
Fxr2	T	C	11: 69,532,382 (GRCm39)	V139A	probably benign	Het
Gpr180	T	G	14: 118,400,035 (GRCm39)	V401G	possibly damaging	Het
Heatr5b	G	T	17: 79,110,936 (GRCm39)	R971S	possibly damaging	Het
Igkv8-34	C	A	6: 70,021,103 (GRCm39)	A120S	probably benign	Het
Inpp5b	T	A	4: 124,645,370 (GRCm39)	H219Q	probably benign	Het
Itprid1	G	T	6: 55,955,404 (GRCm39)	G1004V	probably benign	Het
Kremen2	T	C	17: 23,962,526 (GRCm39)		probably null	Het
Mael	G	A	1: 166,029,167 (GRCm39)	P419S	probably benign	Het
Map1a	A	G	2: 121,121,266 (GRCm39)	T102A	probably damaging	Het
Mfsd2a	A	T	4: 122,845,916 (GRCm39)	I119N	possibly damaging	Het
Muc5b	T	C	7: 141,412,685 (GRCm39)	V1877A	unknown	Het
Myo5c	A	C	9: 75,211,332 (GRCm39)	S1733R	probably damaging	Het
Nelfcd	T	C	2: 174,265,176 (GRCm39)	V248A	probably benign	Het
Npc1	A	T	18: 12,334,763 (GRCm39)	I663N	probably damaging	Het
Olig3	T	A	10: 19,232,413 (GRCm39)	S13T	unknown	Het
Or1j17	G	T	2: 36,578,046 (GRCm39)	E11*	probably null	Het
Or8k39	T	C	2: 86,563,129 (GRCm39)	I276V	probably benign	Het
Piezo2	A	C	18: 63,150,590 (GRCm39)		probably null	Het
Pkd1l2	G	T	8: 117,781,610 (GRCm39)	L812M	possibly damaging	Het
Plcd1	G	A	9: 118,903,759 (GRCm39)	T387I	probably damaging	Het
Ppara	C	T	15: 85,671,429 (GRCm39)	S110L	probably damaging	Het
Ranbp9	C	T	13: 43,578,590 (GRCm39)	R161Q	probably damaging	Het
Rufy2	G	T	10: 62,833,748 (GRCm39)	R270L	probably benign	Het
Septin12	C	T	16: 4,806,346 (GRCm39)	E272K	probably damaging	Het
Sgms1	T	C	19: 32,137,182 (GRCm39)	E128G	possibly damaging	Het
Sh3bgr	G	A	16: 96,007,093 (GRCm39)	S21N	probably benign	Het
Sil1	A	T	18: 35,458,466 (GRCm39)	D176E	probably benign	Het
Slc13a2	A	T	11: 78,295,621 (GRCm39)	Y82N	probably damaging	Het
Slc41a1	C	T	1: 131,774,370 (GRCm39)	P479L	probably damaging	Het
Smarca4	A	G	9: 21,570,229 (GRCm39)	K744R	probably damaging	Het
Stxbp1	T	C	2: 32,688,180 (GRCm39)	D495G	probably damaging	Het
Sugp2	T	C	8: 70,695,494 (GRCm39)	S156P	probably benign	Het
Syt3	A	T	7: 44,042,170 (GRCm39)	D343V	probably damaging	Het
Tbl3	G	T	17: 24,924,265 (GRCm39)	T164N	probably benign	Het
Tbpl2	A	T	2: 23,977,326 (GRCm39)		probably null	Het
Tmprss11c	A	T	5: 86,379,723 (GRCm39)	F395Y	probably benign	Het
Tnc	A	T	4: 63,932,280 (GRCm39)	Y711*	probably null	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc41	A	G	10: 86,612,374 (GRCm39)	K1216E	probably damaging	Het
Ube2q2	A	C	9: 55,070,298 (GRCm39)	D80A	probably damaging	Het
Ube2u	A	T	4: 100,389,379 (GRCm39)	K227*	probably null	Het
Uhrf2	T	C	19: 30,048,788 (GRCm39)	Y265H	possibly damaging	Het
Vmn1r208	T	G	13: 22,956,756 (GRCm39)	Y247S	probably damaging	Het
Vmn2r27	A	G	6: 124,174,276 (GRCm39)	C525R	probably damaging	Het
Vps13a	T	C	19: 16,596,849 (GRCm39)	T3090A	probably damaging	Het
Whrn	T	C	4: 63,336,573 (GRCm39)	K674R	probably benign	Het
Zfp202	G	T	9: 40,122,801 (GRCm39)	R521I	probably damaging	Het
Zfp433	T	C	10: 81,556,659 (GRCm39)	V387A	probably benign	Het
Zpld1	T	C	16: 55,067,046 (GRCm39)		probably null	Het

Other mutations in Tcf7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Tcf7l2	APN	19	55,905,853 (GRCm39)	missense	probably damaging	1.00
IGL01013:Tcf7l2	APN	19	55,908,059 (GRCm39)	splice site	probably benign
IGL02871:Tcf7l2	APN	19	55,907,429 (GRCm39)	missense	probably damaging	1.00
banned	UTSW	19	55,919,864 (GRCm39)	critical splice acceptor site	probably null
Notable	UTSW	19	55,915,172 (GRCm39)	missense	unknown
PIT4468001:Tcf7l2	UTSW	19	55,730,820 (GRCm39)	missense	probably damaging	1.00
R0927:Tcf7l2	UTSW	19	55,907,387 (GRCm39)	missense	probably damaging	1.00
R1078:Tcf7l2	UTSW	19	55,731,627 (GRCm39)	missense	probably benign	0.19
R4580:Tcf7l2	UTSW	19	55,907,468 (GRCm39)	missense	probably damaging	1.00
R4721:Tcf7l2	UTSW	19	55,919,886 (GRCm39)	missense	possibly damaging	0.89
R4814:Tcf7l2	UTSW	19	55,912,504 (GRCm39)	nonsense	probably null
R4957:Tcf7l2	UTSW	19	55,919,864 (GRCm39)	critical splice acceptor site	probably null
R5222:Tcf7l2	UTSW	19	55,887,044 (GRCm39)	missense	probably benign
R5484:Tcf7l2	UTSW	19	55,907,940 (GRCm39)	splice site	probably null
R5808:Tcf7l2	UTSW	19	55,896,973 (GRCm39)	missense	probably damaging	1.00
R5914:Tcf7l2	UTSW	19	55,886,992 (GRCm39)	missense	probably benign	0.00
R6077:Tcf7l2	UTSW	19	55,905,868 (GRCm39)	nonsense	probably null
R6116:Tcf7l2	UTSW	19	55,907,446 (GRCm39)	missense	probably damaging	1.00
R6861:Tcf7l2	UTSW	19	55,730,955 (GRCm39)	missense	probably damaging	1.00
R6970:Tcf7l2	UTSW	19	55,743,480 (GRCm39)	missense	probably benign	0.44
R7009:Tcf7l2	UTSW	19	55,883,165 (GRCm39)	critical splice donor site	probably null
R7669:Tcf7l2	UTSW	19	55,912,975 (GRCm39)	nonsense	probably null
R7761:Tcf7l2	UTSW	19	55,914,468 (GRCm39)	missense	probably damaging	1.00
R7823:Tcf7l2	UTSW	19	55,731,521 (GRCm39)	missense	possibly damaging	0.73
R7952:Tcf7l2	UTSW	19	55,886,989 (GRCm39)	start codon destroyed	probably benign	0.00
R8753:Tcf7l2	UTSW	19	55,920,195 (GRCm39)	missense	possibly damaging	0.60
R9333:Tcf7l2	UTSW	19	55,919,928 (GRCm39)	nonsense	probably null
R9342:Tcf7l2	UTSW	19	55,731,517 (GRCm39)	missense	probably benign
R9395:Tcf7l2	UTSW	19	55,920,200 (GRCm39)	nonsense	probably null
R9610:Tcf7l2	UTSW	19	55,899,038 (GRCm39)	missense	probably null	1.00
R9611:Tcf7l2	UTSW	19	55,899,038 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTCAAGTAGAGCCAAGATGATG -3'
(R):5'- CCAGGGACATGTTCTTTGCAAG -3'

Sequencing Primer
(F):5'- TGGAGAAGACAATTAGTGGAGGTCTC -3'
(R):5'- TTCTTTGCAAGAACAGGGAGG -3'

Posted On

2019-09-13