Mutagenetix > Incidental Mutations

Incidental Mutation 'R5808:Cbfa2t2'

448822

Institutional Source

Beutler Lab

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: 0.704) question?

Stock #

R5808 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154436481-154539356 bp(+) (GRCm38)

Type of Mutation

splice site (2 bp from exon)

DNA Base Change (assembly)

T to C at 154517826 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105346 (fasta)

Gene Model

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

Predicted Effect

silent
Transcript: ENSMUST00000045270

SMART Domains

Protein: ENSMUSP00000043087
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	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

silent
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 null
Transcript: ENSMUST00000109724

SMART Domains

Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533

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

Predicted Effect

silent
Transcript: ENSMUST00000109725

SMART Domains

Protein: ENSMUSP00000105347
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	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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	T	10: 76,450,648	R6W	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,913		probably benign	Het
Ahnak	T	A	19: 9,010,235	V2961E	possibly damaging	Het
Aldh1a7	A	T	19: 20,708,197	Y330N	possibly damaging	Het
Bag6	A	G	17: 35,146,322	Y1041C	probably damaging	Het
Baz1b	T	A	5: 135,221,958	V866E	probably benign	Het
Bmpr2	A	T	1: 59,867,401	Y551F	probably benign	Het
Cage1	A	G	13: 38,022,325		probably benign	Het
Caskin2	G	T	11: 115,801,763	P732Q	probably damaging	Het
Ccdc162	A	T	10: 41,655,504	M502K	possibly damaging	Het
Cfap157	T	C	2: 32,780,645	D197G	probably damaging	Het
CN725425	T	A	15: 91,245,644	S237T	probably benign	Het
Defb40	T	C	8: 18,975,079	H37R	probably benign	Het
Dis3l2	A	C	1: 87,049,638	S836R	possibly damaging	Het
Dnah14	T	C	1: 181,741,159	I2818T	possibly damaging	Het
Dpysl2	T	A	14: 66,865,172		probably null	Het
Dsc1	A	T	18: 20,086,829	C761*	probably null	Het
Dsg1b	A	T	18: 20,408,725	D763V	probably damaging	Het
Eif2ak1	C	T	5: 143,883,994	P251L	probably benign	Het
Epha6	A	T	16: 59,682,742	I934K	probably damaging	Het
Fbxo40	T	C	16: 36,970,382	E122G	probably damaging	Het
Filip1	C	T	9: 79,818,701	G879R	possibly damaging	Het
Frem2	A	T	3: 53,652,563	F1508I	probably damaging	Het
Gja1	A	G	10: 56,388,498	N318D	probably benign	Het
Gm11564	T	C	11: 99,815,041	S188G	unknown	Het
Hlcs	A	G	16: 94,262,632	V523A	probably benign	Het
Kif1a	C	A	1: 93,042,698	E1041D	probably damaging	Het
Lamtor1	A	G	7: 101,910,082	Y81C	possibly damaging	Het
Loxl1	A	G	9: 58,294,449	L453S	probably damaging	Het
Mcf2l	A	G	8: 12,993,937	M1V	probably null	Het
Megf6	A	G	4: 154,267,662	Q1208R	probably benign	Het
Morc2a	T	A	11: 3,683,781	I631N	probably benign	Het
Muc6	T	C	7: 141,640,093		probably benign	Het
Mybpc1	T	C	10: 88,570,566	S139G	possibly damaging	Het
Myo18a	T	C	11: 77,829,301	F1017L	probably benign	Het
Nup62	A	C	7: 44,829,992	Q477P	possibly damaging	Het
P2ry13	T	A	3: 59,210,232	I42F	probably benign	Het
Ptprb	G	A	10: 116,339,487	R1129K	probably benign	Het
Rexo4	T	A	2: 26,964,185	K45I	probably damaging	Het
Rnf213	G	A	11: 119,436,295	V1703I	probably benign	Het
Sec23ip	C	A	7: 128,772,184	A710E	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Het
Slc41a2	T	C	10: 83,313,498	T194A	probably benign	Het
Slc4a10	G	A	2: 62,250,472	A348T	probably damaging	Het
Soat2	G	A	15: 102,154,025		probably null	Het
Srms	T	C	2: 181,208,755	S204G	probably benign	Het
Szt2	G	A	4: 118,372,613	R2774C	unknown	Het
Tcf7l2	T	C	19: 55,908,541	V182A	probably damaging	Het
Tmem167b	C	T	3: 108,560,243	R29H	probably benign	Het
Trappc12	T	A	12: 28,746,864	D223V	probably damaging	Het
Ttc6	T	A	12: 57,617,611	S383R	possibly damaging	Het
Ubr1	C	T	2: 120,961,092	R137H	possibly damaging	Het
Vmn2r24	T	A	6: 123,815,638	C641*	probably null	Het
Vrk3	A	G	7: 44,759,874	D155G	probably damaging	Het
Xxylt1	T	C	16: 31,050,685	Y199C	probably damaging	Het
Zbtb46	A	T	2: 181,423,570	D262E	probably benign	Het
Zcchc9	A	T	13: 91,800,647	S58T	probably benign	Het
Zfyve16	A	T	13: 92,495,055	L1344*	probably null	Het

Other mutations in Cbfa2t2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Cbfa2t2	APN	2	154528875	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTGGGAAGAAACAGCTATTC -3'
(R):5'- AGTCTGTGAACTCCCTCCAG -3'

Sequencing Primer
(F):5'- ACAGCTATTCTGAGACTCGTAGG -3'
(R):5'- GTCTGTGAACTCCCTCCAGATGAAG -3'

Posted On

2016-12-15