Incidental Mutation 'R0356:Cbfa2t2'
ID 29814
Institutional Source Beutler Lab
Gene Symbol Cbfa2t2
Ensembl Gene ENSMUSG00000038533
Gene Name CBFA2/RUNX1 translocation partner 2
Synonyms Cbfa2t2h, MTGR1, C330013D05Rik
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 154278401-154381276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154373269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 475 (D475E)
Ref Sequence ENSEMBL: ENSMUSP00000043087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045270] [ENSMUST00000099178] [ENSMUST00000109725]
AlphaFold O70374
Predicted Effect probably benign
Transcript: ENSMUST00000045270
AA Change: D475E

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: D475E

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
TAFH 106 196 1.06e-49 SMART
Pfam:NHR2 322 388 1.3e-40 PFAM
PDB:2KYG|C 420 450 3e-7 PDB
Pfam:zf-MYND 498 534 1.4e-9 PFAM
low complexity region 573 588 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099178
SMART Domains Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
TAFH 106 196 1.06e-49 SMART
Pfam:NHR2 322 388 4.4e-40 PFAM
low complexity region 402 419 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109725
AA Change: D474E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: D474E

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
TAFH 106 196 1.06e-49 SMART
Pfam:NHR2 322 388 1e-40 PFAM
Pfam:zf-MYND 497 533 3.3e-11 PFAM
low complexity region 572 587 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000137526
AA Change: D179E
SMART Domains Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533
AA Change: D179E

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:NHR2 28 94 2e-41 PFAM
Pfam:zf-MYND 203 239 3.1e-10 PFAM
low complexity region 278 293 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154487
Meta Mutation Damage Score 0.1561 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5'-region of the RUNX1 (AML1) gene fused to the 3'-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are smaller and show reduced numbers of intestinal goblet, Paneth and enteroendocrine cells, small intestine inflammation, and strain dependent postnatal lethality. Homozygotes for a different null allele are infertile due to defects in primordial germ cell maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Cbfa2t2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Cbfa2t2 APN 2 154,370,795 (GRCm39) missense probably damaging 1.00
IGL01913:Cbfa2t2 APN 2 154,359,693 (GRCm39) missense probably damaging 1.00
IGL02090:Cbfa2t2 APN 2 154,373,336 (GRCm39) splice site probably benign
IGL02850:Cbfa2t2 APN 2 154,377,090 (GRCm39) missense probably damaging 0.97
R0302:Cbfa2t2 UTSW 2 154,376,796 (GRCm39) splice site probably benign
R1218:Cbfa2t2 UTSW 2 154,365,839 (GRCm39) missense probably benign 0.43
R1571:Cbfa2t2 UTSW 2 154,342,347 (GRCm39) missense probably damaging 1.00
R1998:Cbfa2t2 UTSW 2 154,346,709 (GRCm39) missense probably damaging 1.00
R2016:Cbfa2t2 UTSW 2 154,359,727 (GRCm39) missense probably damaging 1.00
R2017:Cbfa2t2 UTSW 2 154,359,727 (GRCm39) missense probably damaging 1.00
R2056:Cbfa2t2 UTSW 2 154,377,077 (GRCm39) missense probably damaging 1.00
R3617:Cbfa2t2 UTSW 2 154,278,904 (GRCm39) intron probably benign
R4299:Cbfa2t2 UTSW 2 154,365,848 (GRCm39) missense probably damaging 1.00
R4746:Cbfa2t2 UTSW 2 154,365,845 (GRCm39) missense possibly damaging 0.94
R4969:Cbfa2t2 UTSW 2 154,365,900 (GRCm39) missense probably damaging 1.00
R5058:Cbfa2t2 UTSW 2 154,346,665 (GRCm39) missense probably damaging 1.00
R5109:Cbfa2t2 UTSW 2 154,373,293 (GRCm39) missense probably damaging 1.00
R5381:Cbfa2t2 UTSW 2 154,365,849 (GRCm39) missense probably damaging 1.00
R5573:Cbfa2t2 UTSW 2 154,278,782 (GRCm39) intron probably benign
R5808:Cbfa2t2 UTSW 2 154,359,746 (GRCm39) splice site probably null
R5826:Cbfa2t2 UTSW 2 154,342,375 (GRCm39) missense possibly damaging 0.90
R5977:Cbfa2t2 UTSW 2 154,359,697 (GRCm39) missense probably damaging 1.00
R6052:Cbfa2t2 UTSW 2 154,352,501 (GRCm39) missense probably damaging 1.00
R6842:Cbfa2t2 UTSW 2 154,365,965 (GRCm39) missense probably benign 0.02
R6923:Cbfa2t2 UTSW 2 154,376,903 (GRCm39) missense probably damaging 1.00
R7269:Cbfa2t2 UTSW 2 154,357,895 (GRCm39) missense probably benign 0.37
R7318:Cbfa2t2 UTSW 2 154,342,374 (GRCm39) missense probably benign 0.01
R7622:Cbfa2t2 UTSW 2 154,342,365 (GRCm39) missense possibly damaging 0.90
R8030:Cbfa2t2 UTSW 2 154,357,816 (GRCm39) missense probably damaging 0.96
R8691:Cbfa2t2 UTSW 2 154,342,403 (GRCm39) missense possibly damaging 0.74
R8977:Cbfa2t2 UTSW 2 154,342,410 (GRCm39) missense probably benign 0.06
R9420:Cbfa2t2 UTSW 2 154,352,426 (GRCm39) critical splice acceptor site probably null
R9569:Cbfa2t2 UTSW 2 154,346,485 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGCATCTAAGCCATTGGGGTACTTG -3'
(R):5'- AGGAGTGGACTCTTTCTACCCAGC -3'

Sequencing Primer
(F):5'- tggaagcagaagtaggattgtg -3'
(R):5'- CCAGCATTTCAGTGGCAAG -3'
Posted On 2013-04-24