Incidental Mutation 'IGL02934:Cbfa2t3'
ID 364243
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbfa2t3
Ensembl Gene ENSMUSG00000006362
Gene Name CBFA2/RUNX1 translocation partner 3
Synonyms MTGR2, A630044F12Rik, ETO-2, Eto2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02934
Quality Score
Status
Chromosome 8
Chromosomal Location 123351880-123425848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123374497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 48 (T48A)
Ref Sequence ENSEMBL: ENSMUSP00000065728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006525] [ENSMUST00000064674] [ENSMUST00000127664] [ENSMUST00000127984] [ENSMUST00000134045]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006525
SMART Domains Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
TAFH 87 177 5.46e-52 SMART
low complexity region 248 257 N/A INTRINSIC
Pfam:NHR2 295 361 3.6e-41 PFAM
PDB:2KYG|C 395 424 3e-10 PDB
Pfam:zf-MYND 472 508 2.6e-10 PFAM
low complexity region 529 552 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064674
AA Change: T48A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: T48A

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
TAFH 113 203 5.46e-52 SMART
low complexity region 274 283 N/A INTRINSIC
Pfam:NHR2 321 387 7.1e-41 PFAM
PDB:2KYG|C 421 450 1e-10 PDB
Pfam:zf-MYND 498 534 7.1e-10 PFAM
low complexity region 555 578 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127984
AA Change: T83A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: T83A

DomainStartEndE-ValueType
low complexity region 47 62 N/A INTRINSIC
TAFH 148 238 5.46e-52 SMART
low complexity region 309 318 N/A INTRINSIC
Pfam:NHR2 356 422 2.3e-38 PFAM
PDB:2KYG|C 456 485 2e-10 PDB
Pfam:zf-MYND 533 569 6.9e-10 PFAM
low complexity region 590 613 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134045
AA Change: T48A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000117630
Gene: ENSMUSG00000006362
AA Change: T48A

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
Pfam:TAFH 111 185 3.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148630
Coding Region Coverage
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 myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice that are homozygote null for this gene display skewing of the early myeloid progenitor cells toward the granulocytic/macrophage lineage while reducing the numbers of megakaryocyte-erythroid progenitor cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem184c A G 8: 78,324,449 (GRCm39) V347A probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Cbfa2t3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02095:Cbfa2t3 APN 8 123,360,232 (GRCm39) missense probably damaging 1.00
IGL02578:Cbfa2t3 APN 8 123,360,187 (GRCm39) missense possibly damaging 0.83
IGL03089:Cbfa2t3 APN 8 123,361,873 (GRCm39) missense probably damaging 1.00
R0196:Cbfa2t3 UTSW 8 123,360,076 (GRCm39) missense possibly damaging 0.77
R0365:Cbfa2t3 UTSW 8 123,361,799 (GRCm39) missense probably benign 0.23
R0395:Cbfa2t3 UTSW 8 123,365,690 (GRCm39) missense probably benign 0.09
R0784:Cbfa2t3 UTSW 8 123,377,226 (GRCm39) splice site probably benign
R0835:Cbfa2t3 UTSW 8 123,374,517 (GRCm39) missense probably benign 0.00
R1608:Cbfa2t3 UTSW 8 123,374,448 (GRCm39) missense probably damaging 0.99
R2008:Cbfa2t3 UTSW 8 123,370,032 (GRCm39) missense probably damaging 0.99
R2088:Cbfa2t3 UTSW 8 123,364,725 (GRCm39) unclassified probably benign
R2095:Cbfa2t3 UTSW 8 123,361,727 (GRCm39) missense probably benign
R4079:Cbfa2t3 UTSW 8 123,374,434 (GRCm39) splice site probably null
R4175:Cbfa2t3 UTSW 8 123,370,057 (GRCm39) missense probably damaging 1.00
R5013:Cbfa2t3 UTSW 8 123,365,598 (GRCm39) missense possibly damaging 0.95
R5141:Cbfa2t3 UTSW 8 123,361,760 (GRCm39) missense probably benign 0.24
R5391:Cbfa2t3 UTSW 8 123,360,134 (GRCm39) nonsense probably null
R6067:Cbfa2t3 UTSW 8 123,370,236 (GRCm39) missense probably benign 0.00
R6078:Cbfa2t3 UTSW 8 123,370,236 (GRCm39) missense probably benign 0.00
R6192:Cbfa2t3 UTSW 8 123,361,135 (GRCm39) missense probably benign 0.00
R6281:Cbfa2t3 UTSW 8 123,360,148 (GRCm39) missense probably damaging 1.00
R6520:Cbfa2t3 UTSW 8 123,362,540 (GRCm39) missense probably benign 0.02
R6936:Cbfa2t3 UTSW 8 123,374,478 (GRCm39) missense probably damaging 0.97
R7154:Cbfa2t3 UTSW 8 123,364,883 (GRCm39) nonsense probably null
R7196:Cbfa2t3 UTSW 8 123,365,729 (GRCm39) missense probably benign 0.26
R7295:Cbfa2t3 UTSW 8 123,364,768 (GRCm39) missense probably benign 0.02
R7514:Cbfa2t3 UTSW 8 123,361,865 (GRCm39) missense probably damaging 1.00
R7616:Cbfa2t3 UTSW 8 123,360,076 (GRCm39) missense possibly damaging 0.87
R8070:Cbfa2t3 UTSW 8 123,369,720 (GRCm39) missense possibly damaging 0.81
R8485:Cbfa2t3 UTSW 8 123,357,517 (GRCm39) missense probably damaging 0.97
R8534:Cbfa2t3 UTSW 8 123,365,653 (GRCm39) missense probably damaging 1.00
R9718:Cbfa2t3 UTSW 8 123,364,936 (GRCm39) missense probably benign 0.25
U15987:Cbfa2t3 UTSW 8 123,370,236 (GRCm39) missense probably benign 0.00
Z1176:Cbfa2t3 UTSW 8 123,425,634 (GRCm39) start gained probably benign
Z1177:Cbfa2t3 UTSW 8 123,357,496 (GRCm39) missense probably benign
Posted On 2015-12-18