Incidental Mutation 'R6857:Tcf3'
ID 543685
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 044959-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6857 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80245348-80269481 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 80252733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000020377] [ENSMUST00000020379] [ENSMUST00000105339] [ENSMUST00000105340] [ENSMUST00000105341] [ENSMUST00000105342] [ENSMUST00000105343] [ENSMUST00000105344] [ENSMUST00000105345] [ENSMUST00000105346] [ENSMUST00000156244]
AlphaFold P15806
Predicted Effect probably benign
Transcript: ENSMUST00000020377
SMART Domains Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000105339
SMART Domains Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000105341
SMART Domains Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000105344
SMART Domains Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000156244
SMART Domains Protein: ENSMUSP00000120303
Gene: ENSMUSG00000020167

DomainStartEndE-ValueType
low complexity region 19 37 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000156990
SMART Domains Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167

DomainStartEndE-ValueType
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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,110,514 (GRCm39) L545P possibly damaging Het
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Ahnak C T 19: 9,014,532 (GRCm39) Q119* probably null Het
Anxa10 C A 8: 62,514,051 (GRCm39) A239S probably benign Het
B020011L13Rik A T 1: 117,729,018 (GRCm39) H175L probably benign Het
Best2 A G 8: 85,734,452 (GRCm39) V422A probably benign Het
Cc2d2b T C 19: 40,759,309 (GRCm39) F298S possibly damaging Het
Cd38 T A 5: 44,063,540 (GRCm39) M211K probably damaging Het
Cd3d T G 9: 44,896,902 (GRCm39) M92R probably damaging Het
Cdk5rap2 C A 4: 70,163,633 (GRCm39) E1474* probably null Het
Clvs1 A G 4: 9,449,433 (GRCm39) K341E probably benign Het
Copg2 G T 6: 30,840,533 (GRCm39) D112E possibly damaging Het
Cspg4b A T 13: 113,456,492 (GRCm39) N846I probably damaging Het
Dmxl1 A T 18: 49,997,902 (GRCm39) N697Y probably damaging Het
Dync1h1 T C 12: 110,624,981 (GRCm39) S3803P possibly damaging Het
Ecpas T A 4: 58,814,065 (GRCm39) D1347V probably damaging Het
Epx T A 11: 87,760,781 (GRCm39) K384* probably null Het
Fam135a G C 1: 24,053,870 (GRCm39) D1222E probably damaging Het
Fndc1 T A 17: 7,991,002 (GRCm39) H898L unknown Het
Gapvd1 A G 2: 34,618,389 (GRCm39) I190T probably damaging Het
Hax1 T G 3: 89,904,759 (GRCm39) S122R probably damaging Het
Hdac9 T G 12: 34,443,362 (GRCm39) M272L probably benign Het
Itgb7 T C 15: 102,131,900 (GRCm39) S228G probably damaging Het
Itpr2 C A 6: 146,298,517 (GRCm39) E315* probably null Het
Kctd8 T C 5: 69,454,045 (GRCm39) N331D probably benign Het
Ky G A 9: 102,419,631 (GRCm39) G546E probably damaging Het
Lao1 T C 4: 118,821,023 (GRCm39) probably null Het
Mtmr12 T A 15: 12,263,918 (GRCm39) W427R probably damaging Het
Mxra8 A G 4: 155,927,593 (GRCm39) K434E possibly damaging Het
Myh4 T C 11: 67,140,711 (GRCm39) C676R possibly damaging Het
Nek7 C T 1: 138,443,420 (GRCm39) G178R probably damaging Het
Or5w17 A T 2: 87,583,831 (GRCm39) C169S probably damaging Het
Or8b50 T C 9: 38,518,307 (GRCm39) L182P probably benign Het
Or8k35 A T 2: 86,424,608 (GRCm39) L188H probably damaging Het
Paqr5 G T 9: 61,883,370 (GRCm39) H41N probably damaging Het
Plekha8 T C 6: 54,606,920 (GRCm39) L405P probably damaging Het
Plpbp A G 8: 27,535,454 (GRCm39) N79S possibly damaging Het
Plxnd1 G T 6: 115,970,724 (GRCm39) A348E probably benign Het
Prdm9 T C 17: 15,764,518 (GRCm39) Q754R probably benign Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rgs12 A T 5: 35,187,366 (GRCm39) K213* probably null Het
Serpina3m T C 12: 104,355,585 (GRCm39) L84P probably damaging Het
Tab2 T C 10: 7,796,177 (GRCm39) T102A possibly damaging Het
Tagln3 G T 16: 45,544,599 (GRCm39) A24E probably benign Het
Tanc2 A G 11: 105,801,114 (GRCm39) E1110G possibly damaging Het
Tmem14a T C 1: 21,299,769 (GRCm39) probably benign Het
Ttn T A 2: 76,748,275 (GRCm39) E4258V possibly damaging Het
Ubr4 G A 4: 139,213,362 (GRCm39) D5104N possibly damaging Het
Ugt2b37 C G 5: 87,388,705 (GRCm39) A503P probably damaging Het
Unc45b A G 11: 82,804,038 (GRCm39) I72V probably benign Het
Vmn1r88 A T 7: 12,912,258 (GRCm39) M205L possibly damaging Het
Vmn2r109 C T 17: 20,760,932 (GRCm39) M808I probably benign Het
Wdr72 G T 9: 74,062,323 (GRCm39) V490L probably damaging Het
Zfp1004 G T 2: 150,033,982 (GRCm39) C132F probably damaging Het
Zfp998 A T 13: 66,580,161 (GRCm39) H107Q probably benign Het
Zgrf1 T A 3: 127,375,096 (GRCm39) V785E probably damaging Het
Zswim7 A T 11: 62,171,955 (GRCm39) probably benign Het
Other mutations in Tcf3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AATGAGGCTACCAGAAGTCCCC -3'
(R):5'- TGAAAGCCTCCTAGGTGAGC -3'

Sequencing Primer
(F):5'- CACTGCCACTGCCCAGG -3'
(R):5'- AGCCTACACCTGGGGTTTG -3'
Posted On 2019-05-10