Mutagenetix > Incidental Mutation

Incidental Mutation 'R5771:Tcf3'

445376

Institutional Source

Beutler Lab

Gene Symbol

Tcf3

Ensembl Gene

ENSMUSG00000020167

Gene Name

transcription factor 3

Synonyms

E2A, Pan1, Pan2, A1, bHLHb21, ALF2, E47, E12, Tcfe2a

MMRRC Submission

043371-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80245348-80269481 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 80257450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020377] [ENSMUST00000020379] [ENSMUST00000105339] [ENSMUST00000105340] [ENSMUST00000105341] [ENSMUST00000105342] [ENSMUST00000105343] [ENSMUST00000156244] [ENSMUST00000105344] [ENSMUST00000105345] [ENSMUST00000105346]

AlphaFold

P15806

Predicted Effect

probably benign
Transcript: ENSMUST00000020377

SMART Domains

Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC
low complexity region	462	480	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
HLH	553	606	2.66e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020379

SMART Domains

Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	241	264	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
low complexity region	462	480	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC
HLH	550	603	8.79e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105339

SMART Domains

Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	241	264	N/A	INTRINSIC
low complexity region	336	351	N/A	INTRINSIC
low complexity region	458	476	N/A	INTRINSIC
low complexity region	491	502	N/A	INTRINSIC
low complexity region	524	535	N/A	INTRINSIC
HLH	549	602	2.66e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105340

SMART Domains

Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	241	264	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
low complexity region	462	480	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC
HLH	549	602	8.79e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105341

SMART Domains

Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	241	264	N/A	INTRINSIC
low complexity region	336	351	N/A	INTRINSIC
low complexity region	458	476	N/A	INTRINSIC
low complexity region	491	502	N/A	INTRINSIC
HLH	546	599	8.79e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105342

SMART Domains

Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC
low complexity region	463	481	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
low complexity region	529	540	N/A	INTRINSIC
HLH	554	607	2.66e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105343

SMART Domains

Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC
low complexity region	462	480	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC
HLH	550	603	8.79e-11	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000156244
AA Change: V5A

SMART Domains

Protein: ENSMUSP00000120303
Gene: ENSMUSG00000020167
AA Change: V5A

Domain	Start	End	E-Value	Type
low complexity region	19	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105344

SMART Domains

Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	242	265	N/A	INTRINSIC
low complexity region	340	355	N/A	INTRINSIC
low complexity region	463	481	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
HLH	551	604	8.79e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105345

SMART Domains

Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	241	264	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
low complexity region	461	479	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
HLH	549	602	8.79e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105346

SMART Domains

Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	55	73	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	241	264	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
low complexity region	461	479	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
low complexity region	527	538	N/A	INTRINSIC
HLH	552	605	2.66e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156990

SMART Domains

Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167

Domain	Start	End	E-Value	Type
low complexity region	47	65	N/A	INTRINSIC
low complexity region	117	140	N/A	INTRINSIC
low complexity region	234	257	N/A	INTRINSIC
low complexity region	329	344	N/A	INTRINSIC
low complexity region	451	469	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
HLH	539	592	8.79e-11	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

95% (87/92)

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 E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations are devoid of mature B cells, have a partial early block in T-lymphocyte development, and show high postnatal mortality. Many survivors develop T-cell lymphomas between 3 and 10 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,411 (GRCm39)	N1091K	probably damaging	Het
Adam3	C	T	8: 25,197,427 (GRCm39)	V335I	probably benign	Het
AI504432	G	A	3: 106,956,299 (GRCm39)		noncoding transcript	Het
Apcdd1	A	G	18: 63,070,027 (GRCm39)	Y98C	probably damaging	Het
Aqp9	C	T	9: 71,030,146 (GRCm39)	A214T	probably damaging	Het
Atp8b4	T	C	2: 126,220,664 (GRCm39)	D578G	probably benign	Het
Bcdin3d	T	C	15: 99,368,717 (GRCm39)	M161V	probably benign	Het
Bicral	C	T	17: 47,136,284 (GRCm39)	V309I	possibly damaging	Het
Ccdc88b	C	T	19: 6,831,203 (GRCm39)	A580T	probably benign	Het
Cdhr2	T	A	13: 54,874,508 (GRCm39)	V860E	probably damaging	Het
Clhc1	A	T	11: 29,513,854 (GRCm39)	N302Y	possibly damaging	Het
Cnnm2	T	A	19: 46,845,434 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,937,636 (GRCm39)	N709S	probably benign	Het
Ctnnal1	T	C	4: 56,826,328 (GRCm39)	S512G	probably benign	Het
Dgcr8	C	T	16: 18,090,632 (GRCm39)	V581I	probably benign	Het
Dnaaf10	A	G	11: 17,174,638 (GRCm39)	T169A	probably benign	Het
Dnah7c	G	A	1: 46,678,825 (GRCm39)	V1790I	probably benign	Het
Efl1	A	G	7: 82,341,732 (GRCm39)	K452E	probably benign	Het
Epb42	A	C	2: 120,852,301 (GRCm39)	V564G	probably damaging	Het
Etv4	G	A	11: 101,662,282 (GRCm39)	P335S	probably damaging	Het
Fbxw9	T	A	8: 85,791,201 (GRCm39)		probably null	Het
Fcrl2	A	T	3: 87,170,775 (GRCm39)	L3Q	probably damaging	Het
Frmd8	C	A	19: 5,919,478 (GRCm39)	A190S	probably benign	Het
Gcm2	C	T	13: 41,256,991 (GRCm39)	D253N	probably benign	Het
Gfm1	T	C	3: 67,342,895 (GRCm39)	V143A	probably benign	Het
Gigyf2	T	C	1: 87,374,050 (GRCm39)	M1226T	possibly damaging	Het
Gm10110	C	T	14: 90,134,675 (GRCm39)		noncoding transcript	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm20939	T	G	17: 95,181,767 (GRCm39)	C55W	possibly damaging	Het
Gm5407	T	A	16: 49,117,229 (GRCm39)		noncoding transcript	Het
Golga4	A	G	9: 118,387,351 (GRCm39)	E1491G	probably damaging	Het
Hdac11	T	A	6: 91,146,364 (GRCm39)		probably null	Het
Hs3st3b1	C	T	11: 63,780,098 (GRCm39)	S343N	probably benign	Het
Igkv12-44	G	A	6: 69,792,075 (GRCm39)	P4S	probably benign	Het
Igkv1-35	C	T	6: 69,988,231 (GRCm39)	V22I	probably benign	Het
Kcns2	A	T	15: 34,839,068 (GRCm39)	T144S	probably benign	Het
Khdc1c	T	C	1: 21,439,266 (GRCm39)	V84A	possibly damaging	Het
Kif4-ps	T	A	12: 101,115,544 (GRCm39)		noncoding transcript	Het
Lamc2	T	G	1: 153,017,340 (GRCm39)	Y549S	probably benign	Het
Lect2	T	A	13: 56,696,154 (GRCm39)	I8F	probably benign	Het
Loxl3	T	A	6: 83,012,780 (GRCm39)		probably null	Het
Lrwd1	A	T	5: 136,152,516 (GRCm39)	I545N	possibly damaging	Het
Ltbp3	T	C	19: 5,797,572 (GRCm39)	C437R	probably damaging	Het
Lypd3	T	C	7: 24,339,787 (GRCm39)	S285P	probably benign	Het
Mast2	T	A	4: 116,190,622 (GRCm39)	H83L	possibly damaging	Het
Mfsd4b4	A	G	10: 39,768,635 (GRCm39)	F153L	probably benign	Het
Ms4a4b	T	A	19: 11,438,606 (GRCm39)		probably null	Het
Nbr1	T	A	11: 101,450,364 (GRCm39)	L41Q	probably damaging	Het
Nlrp4a	G	A	7: 26,152,814 (GRCm39)	C628Y	probably damaging	Het
Nup160	C	T	2: 90,553,740 (GRCm39)	R1157C	probably damaging	Het
Obscn	T	A	11: 58,891,533 (GRCm39)	I7000F	unknown	Het
Or4k41	T	A	2: 111,280,406 (GRCm39)		probably null	Het
Or4p21	A	T	2: 88,276,652 (GRCm39)	V210D	possibly damaging	Het
Or5ac15	TGAAGAAGAA	TGAAGAA	16: 58,940,335 (GRCm39)		probably benign	Het
Or5b122	T	G	19: 13,562,872 (GRCm39)	V25G	probably damaging	Het
Or8g2	A	T	9: 39,821,546 (GRCm39)	Y149F	probably damaging	Het
Pdilt	T	C	7: 119,094,217 (GRCm39)	K345E	probably damaging	Het
Ppp1r12b	A	T	1: 134,701,162 (GRCm39)		probably null	Het
Ppp2r1b	A	T	9: 50,778,132 (GRCm39)	Q219L	probably damaging	Het
Prim2	A	G	1: 33,493,232 (GRCm39)	S485P	unknown	Het
Prkdc	A	G	16: 15,482,097 (GRCm39)	D380G	probably damaging	Het
Psmg1	A	G	16: 95,783,369 (GRCm39)	L243S	probably damaging	Het
Rapgef5	T	A	12: 117,685,061 (GRCm39)	V270D	probably benign	Het
Rnft1	C	T	11: 86,384,032 (GRCm39)	R311*	probably null	Het
Scaper	T	A	9: 55,724,075 (GRCm39)	I628L	probably damaging	Het
Serpina3j	C	A	12: 104,281,185 (GRCm39)	H119Q	possibly damaging	Het
Slamf6	G	A	1: 171,745,341 (GRCm39)	V23I	probably damaging	Het
Slc12a5	T	A	2: 164,815,688 (GRCm39)	M45K	possibly damaging	Het
Slc25a11	A	C	11: 70,537,016 (GRCm39)	V13G	probably damaging	Het
Slc7a14	T	A	3: 31,292,856 (GRCm39)	Y143F	probably damaging	Het
Spryd3	A	G	15: 102,025,342 (GRCm39)		probably benign	Het
Stard13	C	A	5: 151,113,476 (GRCm39)	L28F	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Taf2	A	G	15: 54,923,335 (GRCm39)	V314A	probably benign	Het
Tas2r106	T	C	6: 131,655,086 (GRCm39)	N255S	possibly damaging	Het
Tbxa2r	T	A	10: 81,168,775 (GRCm39)	W155R	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,404,959 (GRCm39)	D148G	probably damaging	Het
Vmn2r77	A	G	7: 86,461,235 (GRCm39)	N854D	probably benign	Het
Vstm4	A	T	14: 32,626,526 (GRCm39)	H64L	probably benign	Het
Wnk2	T	C	13: 49,256,276 (GRCm39)	T282A	probably damaging	Het
Zscan4c	A	T	7: 10,743,574 (GRCm39)	D391V	probably benign	Het

Other mutations in Tcf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01798:Tcf3	APN	10	80,249,043 (GRCm39)	missense	probably benign	0.30
IGL02676:Tcf3	APN	10	80,256,925 (GRCm39)	missense	probably damaging	1.00
IGL03066:Tcf3	APN	10	80,248,879 (GRCm39)	missense	probably damaging	0.97
R0165:Tcf3	UTSW	10	80,248,831 (GRCm39)	missense	probably damaging	1.00
R0401:Tcf3	UTSW	10	80,256,992 (GRCm39)	missense	probably damaging	0.99
R0624:Tcf3	UTSW	10	80,249,168 (GRCm39)	missense	probably damaging	1.00
R2114:Tcf3	UTSW	10	80,246,040 (GRCm39)	missense	probably damaging	1.00
R5034:Tcf3	UTSW	10	80,253,377 (GRCm39)	missense	possibly damaging	0.46
R5144:Tcf3	UTSW	10	80,251,071 (GRCm39)	missense	probably damaging	0.98
R5347:Tcf3	UTSW	10	80,246,045 (GRCm39)	missense	probably damaging	1.00
R5418:Tcf3	UTSW	10	80,263,517 (GRCm39)	missense	probably damaging	1.00
R5786:Tcf3	UTSW	10	80,255,333 (GRCm39)	missense	probably benign	0.06
R5941:Tcf3	UTSW	10	80,248,878 (GRCm39)	missense	probably benign	0.06
R6857:Tcf3	UTSW	10	80,252,733 (GRCm39)	splice site	probably null
R6982:Tcf3	UTSW	10	80,253,384 (GRCm39)	missense	probably damaging	1.00
R7178:Tcf3	UTSW	10	80,257,433 (GRCm39)	missense	unknown
R7840:Tcf3	UTSW	10	80,246,301 (GRCm39)	missense	possibly damaging	0.87
R8336:Tcf3	UTSW	10	80,257,000 (GRCm39)	missense	probably benign
R8958:Tcf3	UTSW	10	80,246,091 (GRCm39)	missense	probably damaging	1.00
R9090:Tcf3	UTSW	10	80,253,191 (GRCm39)	missense	probably benign	0.28
R9271:Tcf3	UTSW	10	80,253,191 (GRCm39)	missense	probably benign	0.28
R9429:Tcf3	UTSW	10	80,252,436 (GRCm39)	missense	probably benign	0.00
X0022:Tcf3	UTSW	10	80,253,292 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCCTGTAGGAGGCAAAG -3'
(R):5'- TCTGACAGTATCTGCCTTGC -3'

Sequencing Primer
(F):5'- CAAAGAGAAGTCAGTCTAGTTCAGTC -3'
(R):5'- TGCTTACCCACCCGCTGAG -3'

Posted On

2016-11-21