Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Tcf7l2'

85763

Institutional Source

Beutler Lab

Gene Symbol

Tcf7l2

Ensembl Gene

ENSMUSG00000024985

Gene Name

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

Synonyms

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

MMRRC Submission

039164-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1078 (G1)

Quality Score

154

Status

Not validated

Chromosome

Chromosomal Location

55741810-55933654 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55743195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 127 (T127A)

Ref Sequence

ENSEMBL: ENSMUSP00000107286 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041717] [ENSMUST00000061496] [ENSMUST00000111649] [ENSMUST00000111651] [ENSMUST00000111652] [ENSMUST00000111653] [ENSMUST00000111654] [ENSMUST00000111656] [ENSMUST00000111657] [ENSMUST00000111658] [ENSMUST00000111659] [ENSMUST00000111662] [ENSMUST00000153888]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000041717
AA Change: T127A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042950
Gene: ENSMUSG00000024985
AA Change: T127A

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
AA Change: T127A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000050081
Gene: ENSMUSG00000024985
AA Change: T127A

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: ENSMUST00000111649
AA Change: T127A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107276
Gene: ENSMUSG00000024985
AA Change: T127A

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	236	2.5e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111651
AA Change: T127A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107278
Gene: ENSMUSG00000024985
AA Change: T127A

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	284	2.3e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111652
AA Change: T127A

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

SMART Domains

Protein: ENSMUSP00000107279
Gene: ENSMUSG00000024985
AA Change: T127A

Domain	Start	End	E-Value	Type
Pfam:CTNNB1_binding	1	259	9.1e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111653
AA Change: T127A

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107280
Gene: ENSMUSG00000024985
AA Change: T127A

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
AA Change: T127A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107281
Gene: ENSMUSG00000024985
AA Change: T127A

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
AA Change: T127A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107283
Gene: ENSMUSG00000024985
AA Change: T127A

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
AA Change: T127A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107284
Gene: ENSMUSG00000024985
AA Change: T127A

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

probably benign
Transcript: ENSMUST00000111658
AA Change: T127A

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107286
Gene: ENSMUSG00000024985
AA Change: T127A

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
AA Change: T127A

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

SMART Domains

Protein: ENSMUSP00000107287
Gene: ENSMUSG00000024985
AA Change: T127A

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: ENSMUST00000111662
AA Change: T127A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107291
Gene: ENSMUSG00000024985
AA Change: T127A

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: ENSMUST00000153888
AA Change: T85A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000118661
Gene: ENSMUSG00000024985
AA Change: T85A

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

noncoding transcript
Transcript: ENSMUST00000126434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133008

Predicted Effect

unknown
Transcript: ENSMUST00000127233
AA Change: T119A

SMART Domains

Protein: ENSMUSP00000123428
Gene: ENSMUSG00000024985
AA Change: T119A

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

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Tcf7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Tcf7l2	APN	19	55917421	missense	probably damaging	1.00
IGL01013:Tcf7l2	APN	19	55919627	splice site	probably benign
IGL02871:Tcf7l2	APN	19	55918997	missense	probably damaging	1.00
banned	UTSW	19	55931432	critical splice acceptor site	probably null
Notable	UTSW	19	55926740	missense	unknown
PIT4468001:Tcf7l2	UTSW	19	55742388	missense	probably damaging	1.00
R0927:Tcf7l2	UTSW	19	55918955	missense	probably damaging	1.00
R4580:Tcf7l2	UTSW	19	55919036	missense	probably damaging	1.00
R4721:Tcf7l2	UTSW	19	55931454	missense	possibly damaging	0.89
R4814:Tcf7l2	UTSW	19	55924072	nonsense	probably null
R4957:Tcf7l2	UTSW	19	55931432	critical splice acceptor site	probably null
R5222:Tcf7l2	UTSW	19	55898612	missense	probably benign
R5484:Tcf7l2	UTSW	19	55919508	splice site	probably null
R5808:Tcf7l2	UTSW	19	55908541	missense	probably damaging	1.00
R5914:Tcf7l2	UTSW	19	55898560	missense	probably benign	0.00
R6077:Tcf7l2	UTSW	19	55917436	nonsense	probably null
R6116:Tcf7l2	UTSW	19	55919014	missense	probably damaging	1.00
R6861:Tcf7l2	UTSW	19	55742523	missense	probably damaging	1.00
R6970:Tcf7l2	UTSW	19	55755048	missense	probably benign	0.44
R7009:Tcf7l2	UTSW	19	55894733	critical splice donor site	probably null
R7382:Tcf7l2	UTSW	19	55926740	missense	unknown
R7669:Tcf7l2	UTSW	19	55924543	nonsense	probably null
R7761:Tcf7l2	UTSW	19	55926036	missense	probably damaging	1.00
R7823:Tcf7l2	UTSW	19	55743089	missense	possibly damaging	0.73
R7952:Tcf7l2	UTSW	19	55898557	start codon destroyed	probably benign	0.00
R8753:Tcf7l2	UTSW	19	55931763	missense	possibly damaging	0.60
R9333:Tcf7l2	UTSW	19	55931496	nonsense	probably null
R9342:Tcf7l2	UTSW	19	55743085	missense	probably benign
R9395:Tcf7l2	UTSW	19	55931768	nonsense	probably null
R9610:Tcf7l2	UTSW	19	55910606	missense	probably null	1.00
R9611:Tcf7l2	UTSW	19	55910606	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCGAAAACTTGTAACCGTG -3'
(R):5'- GTTCAGATTGGCACCCCAACAGAG -3'

Sequencing Primer
(F):5'- ctcggggggACACTTGC -3'
(R):5'- AAAGGCTCCCCGAATCGTG -3'

Posted On

2013-11-18