Incidental Mutation 'IGL02090:Cbfa2t2'
ID 279442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cbfa2t2
Ensembl Gene ENSMUSG00000038533
Gene Name CBFA2/RUNX1 translocation partner 2
Synonyms Cbfa2t2h, MTGR1, C330013D05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.753) question?
Stock # IGL02090
Quality Score
Status
Chromosome 2
Chromosomal Location 154278401-154381276 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 154373336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000045270] [ENSMUST00000109725]
AlphaFold O70374
Predicted Effect probably benign
Transcript: ENSMUST00000045270
SMART Domains Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533

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: ENSMUST00000109725
SMART Domains Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533

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 probably benign
Transcript: ENSMUST00000137526
SMART Domains Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533

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
Coding Region Coverage
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 162,968,701 (GRCm39) T482A probably damaging Het
Adh1 T C 3: 137,988,546 (GRCm39) I173T possibly damaging Het
Apoa1 T C 9: 46,140,548 (GRCm39) S60P possibly damaging Het
Blnk A G 19: 40,922,929 (GRCm39) V396A probably benign Het
Borcs8 A G 8: 70,619,030 (GRCm39) D204G probably damaging Het
Calhm5 G A 10: 33,972,261 (GRCm39) P58L probably damaging Het
Cdkal1 T G 13: 29,701,493 (GRCm39) I319L probably benign Het
Celsr1 T A 15: 85,791,922 (GRCm39) T2560S possibly damaging Het
Chd8 A G 14: 52,464,691 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,932 (GRCm39) probably benign Het
Dnah10 A G 5: 124,866,876 (GRCm39) N2265S probably damaging Het
Dnah5 C T 15: 28,240,187 (GRCm39) probably benign Het
Epgn G A 5: 91,181,816 (GRCm39) G133E probably damaging Het
Fdx2 C A 9: 20,984,766 (GRCm39) V13F probably benign Het
Gabarapl2 A G 8: 112,667,831 (GRCm39) Y25C probably damaging Het
Gigyf1 G A 5: 137,523,826 (GRCm39) probably null Het
Gm6040 G A 8: 21,407,169 (GRCm39) probably benign Het
Gm8229 T C 14: 44,604,054 (GRCm39) L81P unknown Het
Gstz1 A G 12: 87,210,528 (GRCm39) E137G probably benign Het
Htra1 T C 7: 130,538,108 (GRCm39) V36A probably benign Het
Ifnlr1 T C 4: 135,432,578 (GRCm39) V338A probably benign Het
Igsf8 A G 1: 172,140,156 (GRCm39) probably benign Het
Khdc1a T A 1: 21,421,212 (GRCm39) F132L probably benign Het
Kifc3 G A 8: 95,829,108 (GRCm39) S561L probably damaging Het
Mpi T C 9: 57,457,936 (GRCm39) T89A probably benign Het
Ncor2 A T 5: 125,111,467 (GRCm39) M1281K probably damaging Het
Or4c117 T C 2: 88,956,021 (GRCm39) N18S probably benign Het
Or4k49 G T 2: 111,495,333 (GRCm39) C254F probably damaging Het
Or6c213 T A 10: 129,574,181 (GRCm39) I202L probably benign Het
Or6c66b T C 10: 129,377,176 (GRCm39) Y257H probably damaging Het
Otog G A 7: 45,949,571 (GRCm39) G2403D probably damaging Het
Pdgfb C A 15: 79,898,184 (GRCm39) A6S probably benign Het
Pfkm T C 15: 98,021,121 (GRCm39) probably null Het
Plcb4 A G 2: 135,789,041 (GRCm39) M274V probably benign Het
Ppm1m A G 9: 106,074,001 (GRCm39) probably null Het
Rptn A G 3: 93,304,041 (GRCm39) D458G possibly damaging Het
Sertad3 C T 7: 27,175,950 (GRCm39) S128F probably benign Het
Sgo2b A T 8: 64,380,123 (GRCm39) L903Q probably damaging Het
Slc15a5 C T 6: 138,020,598 (GRCm39) R245H probably benign Het
Slc24a5 A T 2: 124,910,218 (GRCm39) T40S probably benign Het
Smchd1 T C 17: 71,738,248 (GRCm39) N539S possibly damaging Het
Tlr11 A G 14: 50,600,489 (GRCm39) D825G probably damaging Het
Top3b T G 16: 16,709,334 (GRCm39) V674G possibly damaging Het
Urb2 G A 8: 124,754,976 (GRCm39) V228I probably benign Het
Usp24 C T 4: 106,268,623 (GRCm39) A2061V possibly damaging Het
Wdr72 C A 9: 74,062,212 (GRCm39) H453N possibly damaging Het
Xkr9 T C 1: 13,771,600 (GRCm39) M372T probably damaging Het
Zc3h12d T G 10: 7,743,096 (GRCm39) S289A probably benign Het
Zfp607b A T 7: 27,398,140 (GRCm39) M75L possibly damaging 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
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
R0356:Cbfa2t2 UTSW 2 154,373,269 (GRCm39) missense probably benign 0.03
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
Posted On 2015-04-16