Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02871:Tcf7l2'

362573

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02871

Quality Score

Status

Chromosome

Chromosomal Location

55730252-55922086 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55907429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 349 (C349S)

Ref Sequence

ENSEMBL: ENSMUSP00000107283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041717] [ENSMUST00000061496] [ENSMUST00000111646] [ENSMUST00000111653] [ENSMUST00000111654] [ENSMUST00000111656] [ENSMUST00000111657] [ENSMUST00000148666] [ENSMUST00000111662] [ENSMUST00000153888] [ENSMUST00000111659] [ENSMUST00000111658] [ENSMUST00000142291]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000041717
AA Change: C349S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042950
Gene: ENSMUSG00000024985
AA Change: C349S

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 damaging
Transcript: ENSMUST00000061496
AA Change: C349S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050081
Gene: ENSMUSG00000024985
AA Change: C349S

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

possibly damaging
Transcript: ENSMUST00000111646
AA Change: C189S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107273
Gene: ENSMUSG00000024985
AA Change: C189S

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 damaging
Transcript: ENSMUST00000111653
AA Change: C354S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107280
Gene: ENSMUSG00000024985
AA Change: C354S

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 damaging
Transcript: ENSMUST00000111654
AA Change: C368S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107281
Gene: ENSMUSG00000024985
AA Change: C368S

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 damaging
Transcript: ENSMUST00000111656
AA Change: C349S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107283
Gene: ENSMUSG00000024985
AA Change: C349S

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

possibly damaging
Transcript: ENSMUST00000111657
AA Change: C349S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107284
Gene: ENSMUSG00000024985
AA Change: C349S

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

possibly damaging
Transcript: ENSMUST00000148666
AA Change: C219S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119759
Gene: ENSMUSG00000024985
AA Change: C219S

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	10	106	5.7e-39	PFAM
HMG	196	265	1.02e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111662
AA Change: C349S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107291
Gene: ENSMUSG00000024985
AA Change: C349S

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 damaging
Transcript: ENSMUST00000153888
AA Change: C330S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118661
Gene: ENSMUSG00000024985
AA Change: C330S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000111659
AA Change: C354S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107287
Gene: ENSMUSG00000024985
AA Change: C354S

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 damaging
Transcript: ENSMUST00000111658
AA Change: C373S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107286
Gene: ENSMUSG00000024985
AA Change: C373S

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

Predicted Effect

unknown
Transcript: ENSMUST00000127233
AA Change: C341S

SMART Domains

Protein: ENSMUSP00000123428
Gene: ENSMUSG00000024985
AA Change: C341S

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

noncoding transcript
Transcript: ENSMUST00000143334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145249

Predicted Effect

probably benign
Transcript: ENSMUST00000142291

SMART Domains

Protein: ENSMUSP00000118042
Gene: ENSMUSG00000024985

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	76	5e-40	PFAM
SCOP:d1j46a_	164	178	5e-3	SMART

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 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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	C	A	13: 114,291,374 (GRCm39)	H179Q	probably benign	Het
Bin3	T	A	14: 70,366,354 (GRCm39)	C72*	probably null	Het
Brca2	C	T	5: 150,466,017 (GRCm39)	T1927I	probably benign	Het
Cap2	A	G	13: 46,678,968 (GRCm39)	D26G	probably benign	Het
Casz1	T	G	4: 149,028,776 (GRCm39)	S1074A	possibly damaging	Het
Chd5	C	T	4: 152,461,142 (GRCm39)	P1244L	probably damaging	Het
Exosc9	A	G	3: 36,619,430 (GRCm39)	N408S	probably benign	Het
Ezr	G	A	17: 7,009,789 (GRCm39)	Q352*	probably null	Het
Fbxl4	T	A	4: 22,386,213 (GRCm39)	D273E	probably benign	Het
Gm3269	A	T	14: 16,028,154 (GRCm39)	N193I	probably damaging	Het
Haus8	A	T	8: 71,709,138 (GRCm39)	M90K	probably benign	Het
Igkv5-39	A	T	6: 69,877,490 (GRCm39)	S89T	probably benign	Het
Nlrp4b	A	C	7: 10,449,192 (GRCm39)	D465A	probably benign	Het
Nsf	A	G	11: 103,752,882 (GRCm39)		probably benign	Het
Nt5c1b	G	A	12: 10,431,325 (GRCm39)	M409I	probably damaging	Het
Or4a75	T	C	2: 89,448,504 (GRCm39)	I11V	probably benign	Het
Or4c103	T	A	2: 88,513,428 (GRCm39)	Y216F	probably damaging	Het
Or5ac17	T	A	16: 59,036,737 (GRCm39)	K80*	probably null	Het
Pga5	T	C	19: 10,649,144 (GRCm39)		probably benign	Het
Pigk	T	A	3: 152,472,153 (GRCm39)	I355K	probably damaging	Het
Prom1	T	C	5: 44,187,018 (GRCm39)	Y404C	probably damaging	Het
Ptprs	T	C	17: 56,754,443 (GRCm39)	E199G	probably damaging	Het
Sec24c	T	C	14: 20,742,950 (GRCm39)	S935P	probably benign	Het
Slc22a13	T	C	9: 119,025,077 (GRCm39)	T200A	probably benign	Het
Svep1	T	A	4: 58,100,871 (GRCm39)	I1264L	probably benign	Het
Thbs2	T	C	17: 14,906,048 (GRCm39)	H284R	probably benign	Het
Vmn2r19	C	T	6: 123,313,042 (GRCm39)	S704L	probably damaging	Het
Vmn2r50	A	G	7: 9,781,714 (GRCm39)	Y344H	possibly damaging	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
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
R7382:Tcf7l2	UTSW	19	55,915,172 (GRCm39)	missense	unknown
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

Posted On

2015-12-18