Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00833:Cbfa2t2'

9416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cbfa2t2

Ensembl Gene

ENSMUSG00000038533

Gene Name

core-binding factor, runt domain, alpha subunit 2, translocated to, 2 (human)

Synonyms

Cbfa2t2h, MTGR1, C330013D05Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.813) question?

Stock #

IGL00833

Quality Score

Status

Chromosome

Chromosomal Location

154436481-154539356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154528875 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 423 (Y423N)

Ref Sequence

ENSEMBL: ENSMUSP00000043087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045270] [ENSMUST00000099178] [ENSMUST00000109725]

AlphaFold

O70374

Predicted Effect

probably damaging
Transcript: ENSMUST00000045270
AA Change: Y423N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: Y423N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000109725
AA Change: Y423N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: Y423N

Domain	Start	End	E-Value	Type
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: Y128N

SMART Domains

Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533
AA Change: Y128N

Domain	Start	End	E-Value	Type
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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,217,180	E350G	probably damaging	Het
Apob	T	C	12: 8,010,101	V2861A	probably benign	Het
Bpifb9a	C	T	2: 154,264,275	Q358*	probably null	Het
Cd209e	A	C	8: 3,852,800	M102R	probably benign	Het
Ddx42	T	A	11: 106,231,178	V173D	possibly damaging	Het
Dnah11	A	G	12: 118,179,580	F443L	probably damaging	Het
Exoc4	G	A	6: 33,971,924	E901K	probably damaging	Het
Gp5	T	C	16: 30,309,466	D130G	possibly damaging	Het
H2-T3	T	G	17: 36,187,041	S327R	probably benign	Het
Myo1e	T	C	9: 70,338,778	I417T	probably damaging	Het
Nasp	A	G	4: 116,602,736	V377A	probably damaging	Het
Nbn	A	G	4: 15,964,320	I132V	probably benign	Het
Nckap5	C	A	1: 126,027,152	K622N	probably damaging	Het
Nlrp4e	G	A	7: 23,340,471	V740I	probably benign	Het
Polr3gl	T	G	3: 96,578,560	D130A	probably damaging	Het
Ptprc	T	C	1: 138,078,492	K784R	possibly damaging	Het
Sycp1	A	G	3: 102,876,301		probably null	Het
Tg	C	T	15: 66,688,801	T1004I	probably benign	Het
Tmco5b	T	A	2: 113,296,849	I255N	probably damaging	Het
Ubr4	G	A	4: 139,393,159		probably null	Het
Zeb1	A	G	18: 5,767,774	T762A	probably benign	Het
Zfp345	T	C	2: 150,472,729	E296G	probably damaging	Het

Other mutations in Cbfa2t2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01913:Cbfa2t2	APN	2	154517773	missense	probably damaging	1.00
IGL02090:Cbfa2t2	APN	2	154531416	splice site	probably benign
IGL02850:Cbfa2t2	APN	2	154535170	missense	probably damaging	0.97
R0302:Cbfa2t2	UTSW	2	154534876	splice site	probably benign
R0356:Cbfa2t2	UTSW	2	154531349	missense	probably benign	0.03
R1218:Cbfa2t2	UTSW	2	154523919	missense	probably benign	0.43
R1571:Cbfa2t2	UTSW	2	154500427	missense	probably damaging	1.00
R1998:Cbfa2t2	UTSW	2	154504789	missense	probably damaging	1.00
R2016:Cbfa2t2	UTSW	2	154517807	missense	probably damaging	1.00
R2017:Cbfa2t2	UTSW	2	154517807	missense	probably damaging	1.00
R2056:Cbfa2t2	UTSW	2	154535157	missense	probably damaging	1.00
R3617:Cbfa2t2	UTSW	2	154436984	intron	probably benign
R4299:Cbfa2t2	UTSW	2	154523928	missense	probably damaging	1.00
R4746:Cbfa2t2	UTSW	2	154523925	missense	possibly damaging	0.94
R4969:Cbfa2t2	UTSW	2	154523980	missense	probably damaging	1.00
R5058:Cbfa2t2	UTSW	2	154504745	missense	probably damaging	1.00
R5109:Cbfa2t2	UTSW	2	154531373	missense	probably damaging	1.00
R5381:Cbfa2t2	UTSW	2	154523929	missense	probably damaging	1.00
R5573:Cbfa2t2	UTSW	2	154436862	intron	probably benign
R5808:Cbfa2t2	UTSW	2	154517826	splice site	probably null
R5826:Cbfa2t2	UTSW	2	154500455	missense	possibly damaging	0.90
R5977:Cbfa2t2	UTSW	2	154517777	missense	probably damaging	1.00
R6052:Cbfa2t2	UTSW	2	154510581	missense	probably damaging	1.00
R6842:Cbfa2t2	UTSW	2	154524045	missense	probably benign	0.02
R6923:Cbfa2t2	UTSW	2	154534983	missense	probably damaging	1.00
R7269:Cbfa2t2	UTSW	2	154515975	missense	probably benign	0.37
R7318:Cbfa2t2	UTSW	2	154500454	missense	probably benign	0.01
R7622:Cbfa2t2	UTSW	2	154500445	missense	possibly damaging	0.90
R8030:Cbfa2t2	UTSW	2	154515896	missense	probably damaging	0.96
R8691:Cbfa2t2	UTSW	2	154500483	missense	possibly damaging	0.74
R8977:Cbfa2t2	UTSW	2	154500490	missense	probably benign	0.06
R9420:Cbfa2t2	UTSW	2	154510506	critical splice acceptor site	probably null

Posted On

2012-12-06