Mutagenetix > Incidental Mutation

Incidental Mutation 'R2114:Tcf3'

232940

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

040118-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R2114 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80245348-80269481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80246040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 628 (G628W)

Ref Sequence

ENSEMBL: ENSMUSP00000100983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020372] [ENSMUST00000020377] [ENSMUST00000020379] [ENSMUST00000105339] [ENSMUST00000105340] [ENSMUST00000105341] [ENSMUST00000105342] [ENSMUST00000105344] [ENSMUST00000105343] [ENSMUST00000105345] [ENSMUST00000105346]

AlphaFold

P15806

Predicted Effect

probably benign
Transcript: ENSMUST00000020372

SMART Domains

Protein: ENSMUSP00000020372
Gene: ENSMUSG00000020163

Domain	Start	End	E-Value	Type
Pfam:UCR_6-4kD	1	55	1.2e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020377
AA Change: G629W

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

SMART Domains

Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: G629W

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 damaging
Transcript: ENSMUST00000020379
AA Change: G626W

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

SMART Domains

Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
AA Change: G626W

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 damaging
Transcript: ENSMUST00000105339
AA Change: G625W

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

SMART Domains

Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: G625W

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 damaging
Transcript: ENSMUST00000105340
AA Change: G625W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
AA Change: G625W

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 damaging
Transcript: ENSMUST00000105341
AA Change: G622W

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

SMART Domains

Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
AA Change: G622W

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 damaging
Transcript: ENSMUST00000105342
AA Change: G630W

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

SMART Domains

Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: G630W

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 damaging
Transcript: ENSMUST00000105344
AA Change: G627W

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

SMART Domains

Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
AA Change: G627W

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 damaging
Transcript: ENSMUST00000105343
AA Change: G626W

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

SMART Domains

Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
AA Change: G626W

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

probably damaging
Transcript: ENSMUST00000105345
AA Change: G625W

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

SMART Domains

Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
AA Change: G625W

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 damaging
Transcript: ENSMUST00000105346
AA Change: G628W

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

SMART Domains

Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: G628W

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

unknown
Transcript: ENSMUST00000156990
AA Change: G614W

SMART Domains

Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
AA Change: G614W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129027

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
a	A	G	2: 154,889,649 (GRCm39)	R72G	probably benign	Het
Adgrb1	T	A	15: 74,412,411 (GRCm39)		probably null	Het
Akr1b7	G	A	6: 34,395,929 (GRCm39)	A144T	possibly damaging	Het
Anapc5	C	T	5: 122,926,001 (GRCm39)	V685I	probably benign	Het
Apba3	T	C	10: 81,108,946 (GRCm39)	Y570H	probably damaging	Het
Arf5	C	T	6: 28,424,783 (GRCm39)	Q71*	probably null	Het
Arl15	C	T	13: 114,104,196 (GRCm39)	S111F	probably damaging	Het
Ash1l	C	T	3: 88,890,571 (GRCm39)	L817F	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Blvra	G	T	2: 126,927,989 (GRCm39)	E80*	probably null	Het
Bmp10	A	C	6: 87,411,441 (GRCm39)	E411D	probably benign	Het
Ccdc148	T	C	2: 58,892,128 (GRCm39)	E188G	probably damaging	Het
Ces1a	A	G	8: 93,766,179 (GRCm39)	L145P	possibly damaging	Het
Chsy3	G	A	18: 59,312,561 (GRCm39)	V345I	probably damaging	Het
Ckmt2	T	A	13: 92,003,964 (GRCm39)	I345F	probably benign	Het
Col5a2	T	A	1: 45,415,964 (GRCm39)	E1394D	probably damaging	Het
Dnah6	T	C	6: 73,121,018 (GRCm39)	N1492S	probably damaging	Het
Dock3	T	C	9: 106,870,743 (GRCm39)	N557S	probably benign	Het
Edem2	G	A	2: 155,544,479 (GRCm39)	R424C	probably damaging	Het
Exoc4	T	A	6: 33,324,760 (GRCm39)	N351K	possibly damaging	Het
Eya1	A	T	1: 14,340,998 (GRCm39)	F163I	probably damaging	Het
Ezh1	A	C	11: 101,099,011 (GRCm39)	S290A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fam83h	A	T	15: 75,874,146 (GRCm39)	Y1064N	probably damaging	Het
Fat4	A	T	3: 39,035,633 (GRCm39)	H3095L	probably benign	Het
Fbxo38	A	C	18: 62,639,711 (GRCm39)	I1051S	possibly damaging	Het
Galnt6	G	C	15: 100,612,122 (GRCm39)	C173W	probably damaging	Het
Gcc2	T	A	10: 58,105,362 (GRCm39)	C99*	probably null	Het
Gcn1	A	T	5: 115,736,884 (GRCm39)	M1276L	probably benign	Het
Gm266	T	G	12: 111,452,116 (GRCm39)	Q30P	possibly damaging	Het
Gsdma	A	T	11: 98,563,838 (GRCm39)	E264V	probably damaging	Het
Ift74	A	G	4: 94,515,496 (GRCm39)	T138A	probably benign	Het
Ikzf1	T	G	11: 11,719,473 (GRCm39)	H480Q	probably damaging	Het
Ints14	T	G	9: 64,887,077 (GRCm39)	L336R	probably damaging	Het
Irak1	G	T	X: 73,066,218 (GRCm39)	P197Q	possibly damaging	Het
Kcna6	A	G	6: 126,716,322 (GRCm39)	V189A	possibly damaging	Het
Kcnh4	A	G	11: 100,650,421 (GRCm39)	M4T	probably damaging	Het
Kif4	A	G	X: 99,709,323 (GRCm39)	S315G	probably benign	Het
L3mbtl1	T	A	2: 162,801,990 (GRCm39)		probably null	Het
Lrwd1	T	A	5: 136,159,332 (GRCm39)	Y431F	probably damaging	Het
Madd	A	G	2: 90,994,367 (GRCm39)	V884A	probably damaging	Het
Maz	C	A	7: 126,624,677 (GRCm39)	C281F	probably damaging	Het
Mb	G	T	15: 76,906,759 (GRCm39)	Q9K	probably benign	Het
Mllt10	A	G	2: 18,167,380 (GRCm39)	N435S	probably benign	Het
Mrm3	T	C	11: 76,135,347 (GRCm39)	M186T	possibly damaging	Het
Naprt	T	C	15: 75,763,637 (GRCm39)	Y395C	probably damaging	Het
Nccrp1	T	A	7: 28,246,334 (GRCm39)	Q76L	probably benign	Het
Nlgn1	T	A	3: 26,187,414 (GRCm39)	N157I	probably damaging	Het
Nmi	T	C	2: 51,838,719 (GRCm39)	T272A	probably benign	Het
Obscn	C	T	11: 59,022,484 (GRCm39)	V754M	probably damaging	Het
Pcdhb12	A	G	18: 37,569,265 (GRCm39)	E137G	probably damaging	Het
Pdk2	A	G	11: 94,918,088 (GRCm39)	Y382H	probably damaging	Het
Phka1	C	T	X: 101,653,807 (GRCm39)	R290H	probably damaging	Het
Pick1	T	A	15: 79,139,781 (GRCm39)		probably benign	Het
Pik3r2	T	C	8: 71,222,029 (GRCm39)	I585V	probably benign	Het
Pitrm1	A	T	13: 6,607,809 (GRCm39)	Y268F	probably damaging	Het
Polr2b	G	A	5: 77,468,817 (GRCm39)	E198K	probably damaging	Het
Prelid3b	T	C	2: 174,311,243 (GRCm39)	N9D	probably damaging	Het
Prex2	T	A	1: 11,256,937 (GRCm39)	N1216K	probably damaging	Het
Prkab2	A	T	3: 97,574,711 (GRCm39)	M236L	possibly damaging	Het
Prkar2b	T	A	12: 32,017,279 (GRCm39)	N257I	probably damaging	Het
Prkcd	A	G	14: 30,327,808 (GRCm39)	C208R	probably damaging	Het
Prkch	T	A	12: 73,749,290 (GRCm39)	S347T	probably benign	Het
Prr12	A	G	7: 44,695,506 (GRCm39)	V1320A	unknown	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,381,655 (GRCm39)	R372L	probably damaging	Het
Ptx3	T	A	3: 66,132,187 (GRCm39)	I236N	probably damaging	Het
Ralgapa1	T	C	12: 55,833,134 (GRCm39)		probably null	Het
Rgr	T	A	14: 36,760,809 (GRCm39)		probably null	Het
Rgs7	T	A	1: 174,918,639 (GRCm39)	N235I	probably damaging	Het
Rgsl1	T	A	1: 153,693,295 (GRCm39)	M629L	probably benign	Het
Rpgrip1	A	T	14: 52,387,024 (GRCm39)	E781V	probably benign	Het
Rrh	T	C	3: 129,604,336 (GRCm39)	I288M	probably damaging	Het
Rtf1	T	A	2: 119,535,999 (GRCm39)	H184Q	probably benign	Het
Rusc1	T	C	3: 88,999,014 (GRCm39)	D256G	probably benign	Het
Scap	T	C	9: 110,210,341 (GRCm39)	Y917H	probably damaging	Het
Scn9a	T	C	2: 66,314,396 (GRCm39)	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,933,720 (GRCm39)	T9S	probably benign	Het
Slc24a2	C	T	4: 86,909,592 (GRCm39)	V664I	probably benign	Het
Stim2	A	G	5: 54,261,819 (GRCm39)	Q237R	probably damaging	Het
Synpo2	T	A	3: 122,873,537 (GRCm39)	H1143L	probably benign	Het
Syt4	A	G	18: 31,573,520 (GRCm39)	Y332H	probably damaging	Het
Tcf23	G	A	5: 31,130,919 (GRCm39)	D186N	probably benign	Het
Tcof1	T	C	18: 60,965,857 (GRCm39)	E415G	possibly damaging	Het
Tlr5	T	C	1: 182,803,194 (GRCm39)	W833R	probably damaging	Het
Tmem132b	A	G	5: 125,699,615 (GRCm39)	E92G	probably damaging	Het
Ttn	A	T	2: 76,577,352 (GRCm39)	S24514T	probably damaging	Het
Txndc16	T	C	14: 45,382,484 (GRCm39)	E587G	probably benign	Het
Ubr4	A	T	4: 139,156,922 (GRCm39)	K2316*	probably null	Het
Usp20	T	A	2: 30,906,317 (GRCm39)	C562S	probably damaging	Het
Vat1	A	T	11: 101,356,568 (GRCm39)	V131E	probably damaging	Het
Vgll1	A	C	X: 56,137,790 (GRCm39)	K53T	probably damaging	Het
Zfp1005	T	A	2: 150,109,819 (GRCm39)	C170S	unknown	Het
Zfp592	G	A	7: 80,674,544 (GRCm39)	V503M	probably damaging	Het
Zfp786	A	G	6: 47,803,931 (GRCm39)	V37A	probably damaging	Het
Zscan30	A	G	18: 24,104,173 (GRCm39)		noncoding transcript	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
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
R5771:Tcf3	UTSW	10	80,257,450 (GRCm39)	intron	probably benign
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'- TGCTCATGCTTCGATGGAG -3'
(R):5'- AGACCAAGCTGCTCATCCTG -3'

Sequencing Primer
(F):5'- CTCATGCTTCGATGGAGACCTG -3'
(R):5'- AGGCGGTGCAGGTCATC -3'

Posted On

2014-09-18