Incidental Mutation 'IGL02095:Cbfa2t3'
ID 279599
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 # IGL02095
Quality Score
Status
Chromosome 8
Chromosomal Location 123351880-123425848 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123360232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 438 (E438G)
Ref Sequence ENSEMBL: ENSMUSP00000065728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006525] [ENSMUST00000064674] [ENSMUST00000127664] [ENSMUST00000127984]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000006525
AA Change: E412G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: E412G

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 damaging
Transcript: ENSMUST00000064674
AA Change: E438G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: E438G

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 damaging
Transcript: ENSMUST00000127984
AA Change: E473G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: E473G

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,583 (GRCm39) Q794L probably benign Het
Acrbp C A 6: 125,030,919 (GRCm39) Y313* probably null Het
Adam9 A G 8: 25,486,745 (GRCm39) S178P probably benign Het
Adgrv1 T C 13: 81,727,909 (GRCm39) I244V possibly damaging Het
Atad5 A G 11: 79,985,533 (GRCm39) S207G probably benign Het
Atp10a A G 7: 58,457,141 (GRCm39) D880G probably damaging Het
Cadps2 A G 6: 23,427,309 (GRCm39) I573T probably benign Het
Camsap3 A G 8: 3,653,845 (GRCm39) D494G probably damaging Het
Cisd2 T C 3: 135,116,980 (GRCm39) D37G possibly damaging Het
Cndp2 T C 18: 84,699,157 (GRCm39) E36G possibly damaging Het
Ddx54 G A 5: 120,761,856 (GRCm39) G544D possibly damaging Het
Dok2 G T 14: 71,015,301 (GRCm39) G343W possibly damaging Het
Dscaml1 A G 9: 45,359,001 (GRCm39) N87D probably damaging Het
Ehf T C 2: 103,097,336 (GRCm39) Y237C probably damaging Het
Exoc3 T C 13: 74,328,655 (GRCm39) T569A probably damaging Het
Fam151a T C 4: 106,605,072 (GRCm39) V478A probably damaging Het
Fam227b T A 2: 125,942,924 (GRCm39) H291L probably damaging Het
Fmn2 A G 1: 174,330,167 (GRCm39) T186A unknown Het
Ggnbp2 T C 11: 84,723,954 (GRCm39) Y660C probably damaging Het
Ggt5 G A 10: 75,444,637 (GRCm39) M318I probably benign Het
Gprc5d A G 6: 135,093,175 (GRCm39) I244T probably damaging Het
Gucy2e A G 11: 69,123,613 (GRCm39) S429P possibly damaging Het
Igf2r T C 17: 12,920,892 (GRCm39) D1341G probably damaging Het
Kcnq4 T C 4: 120,557,224 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,497 (GRCm39) D173G probably damaging Het
Lrrc27 C T 7: 138,810,169 (GRCm39) T380I probably benign Het
Lrrc4c A G 2: 97,459,749 (GRCm39) N125S probably benign Het
Mtor C T 4: 148,628,998 (GRCm39) R2217C probably damaging Het
Nfrkb C T 9: 31,322,527 (GRCm39) R866W probably damaging Het
Or10s1 T A 9: 39,985,967 (GRCm39) Y125* probably null Het
Or4d10b C A 19: 12,036,913 (GRCm39) V68F probably benign Het
P2ry6 T A 7: 100,588,071 (GRCm39) D96V probably damaging Het
Pcdh18 A T 3: 49,710,605 (GRCm39) S237T probably benign Het
Pck2 G A 14: 55,779,967 (GRCm39) R72Q probably benign Het
Pik3c2a C T 7: 115,945,423 (GRCm39) R1461Q probably damaging Het
Polr3a A G 14: 24,504,678 (GRCm39) V1130A possibly damaging Het
Ppm1d T A 11: 85,217,832 (GRCm39) D198E probably benign Het
Rasa1 T A 13: 85,364,274 (GRCm39) E1022D probably benign Het
Rbm25 T C 12: 83,718,748 (GRCm39) Y507H probably damaging Het
Rbm26 A T 14: 105,381,696 (GRCm39) I488K probably damaging Het
Ryr2 T A 13: 11,774,645 (GRCm39) E1170D probably damaging Het
Sdk2 T G 11: 113,725,656 (GRCm39) T1198P probably damaging Het
Sema3g C T 14: 30,949,781 (GRCm39) T654I probably benign Het
Spag9 A T 11: 93,999,408 (GRCm39) H1108L probably damaging Het
Trgc2 T A 13: 19,491,580 (GRCm39) probably benign Het
Ubap2 T C 4: 41,229,709 (GRCm39) N142S probably benign Het
Usp33 T C 3: 152,087,431 (GRCm39) F699L possibly damaging Het
Ythdc2 A G 18: 45,006,207 (GRCm39) probably benign Het
Other mutations in Cbfa2t3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Cbfa2t3 APN 8 123,360,187 (GRCm39) missense possibly damaging 0.83
IGL02934:Cbfa2t3 APN 8 123,374,497 (GRCm39) missense probably benign 0.03
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 2015-04-16