Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01913:Cbfa2t2'

179863

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?

Possibly essential (E-score: 0.729) question?

Stock #

IGL01913

Quality Score

Status

Chromosome

Chromosomal Location

154436481-154539356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154517773 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 253 (T253A)

Ref Sequence

ENSEMBL: ENSMUSP00000043087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045270] [ENSMUST00000099178] [ENSMUST00000109724] [ENSMUST00000109725]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045270
AA Change: T253A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: T253A

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 damaging
Transcript: ENSMUST00000099178
AA Change: T253A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: T253A

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: ENSMUST00000109724
AA Change: T205A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
AA Change: T205A

Domain	Start	End	E-Value	Type
TAFH	58	148	1.06e-49	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109725
AA Change: T253A

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: T253A

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

noncoding transcript
Transcript: ENSMUST00000135647

Predicted Effect

probably benign
Transcript: ENSMUST00000137526

SMART Domains

Protein: ENSMUSP00000118371
Gene: ENSMUSG00000038533

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,899,613	E456G	probably damaging	Het
Ahnak	A	T	19: 9,006,064	K1571*	probably null	Het
Arhgef2	G	A	3: 88,631,919	V58M	probably damaging	Het
Ash2l	A	G	8: 25,819,624		probably null	Het
C3	T	C	17: 57,213,767	N1163S	probably null	Het
Dnah5	T	C	15: 28,313,753	V1905A	possibly damaging	Het
Dsg1a	C	T	18: 20,322,236	R86C	probably damaging	Het
Fastkd1	A	T	2: 69,708,501		probably benign	Het
Fat3	T	C	9: 15,998,790	D1972G	probably damaging	Het
Fxyd5	T	C	7: 31,035,212	T163A	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
H6pd	A	T	4: 149,994,463		probably benign	Het
Klhdc2	T	G	12: 69,302,358	S90A	probably benign	Het
Lcn2	A	G	2: 32,387,145	V139A	possibly damaging	Het
Nup205	A	G	6: 35,227,430	E1417G	probably benign	Het
Olfr1102	A	T	2: 87,002,820	M284L	possibly damaging	Het
Olfr1250	T	G	2: 89,657,340	I34L	probably benign	Het
Olfr209	A	T	16: 59,361,931	C96S	probably damaging	Het
Pcdh18	C	A	3: 49,755,249	S539I	possibly damaging	Het
Stat1	T	C	1: 52,126,557	I104T	probably benign	Het
Tmem151a	G	A	19: 5,081,892	R429C	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdpcp	A	G	11: 21,748,931	D570G	probably damaging	Het
Zfp429	T	C	13: 67,396,674	Y27C	probably damaging	Het
Zfp462	T	C	4: 55,012,138	V1368A	probably benign	Het
Zfp651	T	C	9: 121,763,969	C452R	probably damaging	Het

Other mutations in Cbfa2t2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Cbfa2t2	APN	2	154528875	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

Posted On

2014-05-07