Incidental Mutation 'R9429:Tcf3'
ID 712819
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R9429 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 80245348-80269481 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80252436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 350 (P350S)
Ref Sequence ENSEMBL: ENSMUSP00000100979 (fasta)
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
AA Change: P350S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020377
Gene: ENSMUSG00000020167
AA Change: P350S

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
AA Change: P349S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020379
Gene: ENSMUSG00000020167
AA Change: P349S

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 benign
Transcript: ENSMUST00000105339
AA Change: P346S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100976
Gene: ENSMUSG00000020167
AA Change: P346S

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
AA Change: P349S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100977
Gene: ENSMUSG00000020167
AA Change: P349S

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 benign
Transcript: ENSMUST00000105341
AA Change: P346S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100978
Gene: ENSMUSG00000020167
AA Change: P346S

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
AA Change: P350S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100979
Gene: ENSMUSG00000020167
AA Change: P350S

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
AA Change: P350S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100980
Gene: ENSMUSG00000020167
AA Change: P350S

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
AA Change: P350S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100981
Gene: ENSMUSG00000020167
AA Change: P350S

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
AA Change: P349S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000100982
Gene: ENSMUSG00000020167
AA Change: P349S

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
AA Change: P349S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100983
Gene: ENSMUSG00000020167
AA Change: P349S

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
SMART Domains Protein: ENSMUSP00000121172
Gene: ENSMUSG00000020167
AA Change: P338S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A T 8: 33,919,165 (GRCm39) probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam7 G C 14: 68,771,080 (GRCm39) H15Q probably null Het
Adgrv1 A T 13: 81,567,468 (GRCm39) I5235N probably damaging Het
Adgrv1 A C 13: 81,741,165 (GRCm39) C100G probably damaging Het
Aebp1 A G 11: 5,821,649 (GRCm39) T1063A probably benign Het
Atmin A G 8: 117,670,307 (GRCm39) R48G probably benign Het
Atxn10 A G 15: 85,346,565 (GRCm39) E441G probably benign Het
Catsper1 T C 19: 5,389,755 (GRCm39) V505A possibly damaging Het
Chd5 T C 4: 152,447,364 (GRCm39) V471A probably damaging Het
Cma2 A G 14: 56,210,276 (GRCm39) I110V possibly damaging Het
Cnst A C 1: 179,432,566 (GRCm39) N243T probably damaging Het
Col15a1 A T 4: 47,310,439 (GRCm39) N1203I probably damaging Het
Col6a3 T A 1: 90,731,585 (GRCm39) H1556L probably benign Het
Crybg3 T A 16: 59,375,556 (GRCm39) K185N probably benign Het
Dnah1 G A 14: 30,997,499 (GRCm39) Q2620* probably null Het
Dusp10 A C 1: 183,801,091 (GRCm39) D286A probably benign Het
Erich6 A G 3: 58,536,935 (GRCm39) V252A possibly damaging Het
Fhod1 A G 8: 106,057,139 (GRCm39) L945P probably damaging Het
Foxh1 C T 15: 76,553,442 (GRCm39) R120Q probably null Het
Frmd4b T C 6: 97,279,252 (GRCm39) D591G probably damaging Het
Gbe1 G A 16: 70,292,203 (GRCm39) V512I probably benign Het
Ghitm A G 14: 36,852,655 (GRCm39) S142P probably damaging Het
Gldc C T 19: 30,091,172 (GRCm39) A808T possibly damaging Het
Gm14496 C T 2: 181,637,934 (GRCm39) T336I possibly damaging Het
Ido2 T C 8: 25,037,194 (GRCm39) T171A probably damaging Het
Kctd19 A T 8: 106,109,652 (GRCm39) I930N probably damaging Het
Kctd2 T C 11: 115,318,277 (GRCm39) Y187H probably damaging Het
L3hypdh T C 12: 72,124,203 (GRCm39) T246A probably damaging Het
Lama1 A G 17: 68,118,449 (GRCm39) M2554V Het
Laptm5 A G 4: 130,655,961 (GRCm39) Y93C Het
Mroh2b T A 15: 4,963,907 (GRCm39) L833Q probably damaging Het
Ms4a12 T C 19: 11,193,424 (GRCm39) D187G probably damaging Het
Muc4 C T 16: 32,576,098 (GRCm39) T1866I unknown Het
Myo1a G T 10: 127,543,247 (GRCm39) D168Y probably damaging Het
Nek1 C T 8: 61,559,892 (GRCm39) S1005L probably benign Het
Nrg1 T A 8: 32,308,592 (GRCm39) M523L probably benign Het
Nt5c2 T A 19: 46,877,459 (GRCm39) H494L probably benign Het
Oasl2 G A 5: 115,043,040 (GRCm39) V271I probably benign Het
Or13a1 T G 6: 116,471,292 (GRCm39) S241A probably damaging Het
Or52s1 C T 7: 102,861,871 (GRCm39) A268V possibly damaging Het
Or5e1 G T 7: 108,354,412 (GRCm39) M116I probably damaging Het
Per2 T C 1: 91,351,489 (GRCm39) T1006A probably benign Het
Phyhd1 C A 2: 30,156,917 (GRCm39) F19L probably benign Het
Pter T A 2: 12,985,112 (GRCm39) D147E probably benign Het
Rps6ka1 A C 4: 133,598,900 (GRCm39) L90V probably damaging Het
Rrp15 A T 1: 186,481,368 (GRCm39) D46E probably benign Het
Ryr2 A G 13: 11,809,459 (GRCm39) F789L probably damaging Het
Sepsecs T C 5: 52,801,294 (GRCm39) K456R probably benign Het
Septin11 G A 5: 93,321,397 (GRCm39) probably null Het
Sowahb T C 5: 93,191,080 (GRCm39) I546M possibly damaging Het
Spata31 C A 13: 65,070,336 (GRCm39) T828K probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Ston1 A G 17: 88,943,034 (GRCm39) T147A probably benign Het
Tek A G 4: 94,715,515 (GRCm39) D402G probably benign Het
Themis3 T C 17: 66,866,665 (GRCm39) R192G probably damaging Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Trpc3 T G 3: 36,705,777 (GRCm39) I473L probably benign Het
Ttll2 A T 17: 7,620,085 (GRCm39) L4Q probably damaging Het
Urb2 T A 8: 124,750,226 (GRCm39) Y5* probably null Het
Vav3 T A 3: 109,564,561 (GRCm39) Y673* probably null Het
Vmn1r32 T A 6: 66,530,237 (GRCm39) T180S probably benign Het
Vmn1r90 A T 7: 14,295,647 (GRCm39) N150K probably damaging Het
Zbed6 A C 1: 133,585,453 (GRCm39) I628R probably damaging Het
Zfp1007 A T 5: 109,824,334 (GRCm39) L372* probably null Het
Zfp750 G A 11: 121,404,693 (GRCm39) R61C probably damaging Het
Zfp87 A G 13: 74,520,703 (GRCm39) I125T probably damaging Het
Zfta T C 19: 7,399,594 (GRCm39) L447P probably damaging 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
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
X0022:Tcf3 UTSW 10 80,253,292 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGCAGGTTACTGTTACCCTC -3'
(R):5'- GCACACAGCATTAGGGCTTTTC -3'

Sequencing Primer
(F):5'- AGGTTACTGTTACCCTCAACCTC -3'
(R):5'- ACACAGCATTAGGGCTTTTCTCTTC -3'
Posted On 2022-05-16