Mutagenetix > Incidental Mutation

Incidental Mutation 'R2016:Cbfa2t2'

222969

Institutional Source

Beutler Lab

Gene Symbol

Cbfa2t2

Ensembl Gene

ENSMUSG00000038533

Gene Name

CBFA2/RUNX1 translocation partner 2

Synonyms

Cbfa2t2h, MTGR1, C330013D05Rik

MMRRC Submission

040025-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R2016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154278401-154381276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154359727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 264 (L264P)

Ref Sequence

ENSEMBL: ENSMUSP00000096782 (fasta)

Gene Model

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

AlphaFold

O70374

Predicted Effect

probably damaging
Transcript: ENSMUST00000045270
AA Change: L264P

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

SMART Domains

Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: L264P

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: L264P

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

SMART Domains

Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: L264P

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: L216P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
AA Change: L216P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109725
AA Change: L264P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: L264P

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: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	C	2: 164,920,946 (GRCm39)	D29G	unknown	Het
Abca13	A	T	11: 9,240,619 (GRCm39)	L827F	probably damaging	Het
Abca8a	A	G	11: 109,961,213 (GRCm39)	F570L	probably damaging	Het
Adck1	T	A	12: 88,427,862 (GRCm39)	I493N	probably damaging	Het
Adra2c	T	C	5: 35,437,656 (GRCm39)	C143R	probably damaging	Het
Afg2a	T	C	3: 37,632,911 (GRCm39)	V839A	possibly damaging	Het
Akap13	C	T	7: 75,354,279 (GRCm39)	T1800M	probably damaging	Het
Angpt2	T	C	8: 18,755,747 (GRCm39)	N240S	probably damaging	Het
Apob	G	A	12: 8,057,751 (GRCm39)	D2078N	possibly damaging	Het
Atp8b1	T	C	18: 64,673,405 (GRCm39)	N989S	probably damaging	Het
B3gnt2	T	C	11: 22,786,621 (GRCm39)	D189G	probably damaging	Het
Bcam	G	A	7: 19,494,274 (GRCm39)	T374M	probably benign	Het
Blm	T	C	7: 80,155,674 (GRCm39)	D335G	probably benign	Het
Col4a2	T	C	8: 11,495,086 (GRCm39)	F1515L	probably benign	Het
Csf2ra	T	G	19: 61,215,331 (GRCm39)	M95L	probably benign	Het
Cyp2c70	T	A	19: 40,152,856 (GRCm39)	T300S	possibly damaging	Het
Cyp4f15	A	T	17: 32,921,133 (GRCm39)	H440L	probably damaging	Het
Dcaf1	T	A	9: 106,716,287 (GRCm39)	D360E	probably benign	Het
Ddr2	T	C	1: 169,812,537 (GRCm39)	M652V	probably damaging	Het
Dnah2	T	A	11: 69,327,896 (GRCm39)	I3370F	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Efemp1	G	T	11: 28,871,613 (GRCm39)	R376L	probably damaging	Het
Efl1	A	C	7: 82,402,917 (GRCm39)	D673A	probably damaging	Het
Eid1	A	G	2: 125,515,121 (GRCm39)	M4V	probably benign	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Emilin3	G	A	2: 160,751,530 (GRCm39)	R170C	possibly damaging	Het
Erap1	T	C	13: 74,812,270 (GRCm39)	W362R	probably damaging	Het
Fam234a	A	G	17: 26,437,290 (GRCm39)	F91L	probably benign	Het
Flnc	G	A	6: 29,443,796 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,813,076 (GRCm39)	K3132E	possibly damaging	Het
Garin5b	A	T	7: 4,762,397 (GRCm39)	I244N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gnl3	A	G	14: 30,738,326 (GRCm39)		probably null	Het
Has1	A	T	17: 18,068,532 (GRCm39)	I274N	probably damaging	Het
Ift70a1	A	G	2: 75,811,801 (GRCm39)	L94P	probably benign	Het
Itsn1	T	C	16: 91,702,389 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kif13a	T	C	13: 46,964,275 (GRCm39)	D475G	probably benign	Het
Klhl20	A	T	1: 160,930,608 (GRCm39)	M298K	probably damaging	Het
Kynu	G	T	2: 43,494,289 (GRCm39)	G241*	probably null	Het
Lrif1	G	T	3: 106,639,522 (GRCm39)	L202F	possibly damaging	Het
Lrp5	T	C	19: 3,660,056 (GRCm39)	K1003E	probably benign	Het
Mamdc2	T	C	19: 23,311,393 (GRCm39)	D487G	probably damaging	Het
Mapk8ip1	A	G	2: 92,221,379 (GRCm39)		probably null	Het
Mettl25	T	A	10: 105,633,167 (GRCm39)	E425D	probably benign	Het
Midn	G	T	10: 79,985,949 (GRCm39)	R13L	possibly damaging	Het
Mtmr9	T	C	14: 63,777,713 (GRCm39)	Y136C	possibly damaging	Het
Mylk	G	A	16: 34,817,187 (GRCm39)	V61M	probably damaging	Het
Nalcn	T	C	14: 123,831,993 (GRCm39)		probably null	Het
Nle1	G	T	11: 82,796,373 (GRCm39)	P166Q	probably damaging	Het
Nr4a3	G	A	4: 48,083,252 (GRCm39)	C595Y	probably damaging	Het
Or10d4	A	G	9: 39,580,851 (GRCm39)	Y166C	probably damaging	Het
Or4g7	G	T	2: 111,309,532 (GRCm39)	M134I	probably benign	Het
Or4l15	A	G	14: 50,197,959 (GRCm39)	I190T	probably benign	Het
Or5w1b	C	T	2: 87,476,396 (GRCm39)	V24M	probably benign	Het
Or8b1	A	T	9: 38,399,309 (GRCm39)		probably null	Het
Pds5a	T	A	5: 65,805,350 (GRCm39)		probably null	Het
Pitpnm1	T	C	19: 4,161,873 (GRCm39)	V955A	probably benign	Het
Plcb1	T	A	2: 135,204,340 (GRCm39)	I898N	possibly damaging	Het
Plcl2	G	A	17: 50,913,722 (GRCm39)	V244M	probably damaging	Het
Plk1	A	G	7: 121,761,663 (GRCm39)	K257R	probably damaging	Het
Prkcg	A	T	7: 3,372,066 (GRCm39)	T460S	probably damaging	Het
Prl7d1	G	A	13: 27,894,156 (GRCm39)	H138Y	probably damaging	Het
Prss35	A	G	9: 86,637,565 (GRCm39)	S112G	probably benign	Het
Ptprj	C	T	2: 90,294,958 (GRCm39)	V417M	probably damaging	Het
Pwwp2b	A	T	7: 138,836,067 (GRCm39)	I503F	possibly damaging	Het
Rasgrp2	T	C	19: 6,463,195 (GRCm39)	V498A	probably benign	Het
Sall1	A	G	8: 89,755,037 (GRCm39)	V1314A	probably benign	Het
Sema6c	A	G	3: 95,078,545 (GRCm39)	I549V	probably benign	Het
Slc17a1	A	G	13: 24,062,522 (GRCm39)	S230G	probably benign	Het
Slc5a4a	T	G	10: 75,989,414 (GRCm39)	F106V	probably benign	Het
Stat6	T	C	10: 127,486,665 (GRCm39)	L147P	probably damaging	Het
Taar7d	T	A	10: 23,903,642 (GRCm39)	S175T	probably benign	Het
Tasor2	A	T	13: 3,626,770 (GRCm39)	I1060K	probably benign	Het
Tmem132b	A	G	5: 125,700,080 (GRCm39)	Q206R	probably benign	Het
Tmem229a	T	C	6: 24,955,061 (GRCm39)	D231G	probably benign	Het
Trim66	A	G	7: 109,071,439 (GRCm39)		probably null	Het
Ttll9	A	T	2: 152,844,214 (GRCm39)	E374V	probably damaging	Het
Vmn2r69	A	T	7: 85,056,493 (GRCm39)	D548E	probably damaging	Het
Zcchc2	T	A	1: 105,931,851 (GRCm39)		probably null	Het
Zfp282	T	A	6: 47,874,721 (GRCm39)		probably null	Het
Zfp352	A	G	4: 90,113,408 (GRCm39)	E516G	probably benign	Het

Other mutations in Cbfa2t2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CAGCTATTCTGAGACTCGTAGG -3'
(R):5'- CTGAGCAGGAAAGCAGTCTG -3'

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

Posted On

2014-08-25