Mutagenetix > Incidental Mutation

Incidental Mutation 'R6052:Cbfa2t2'

484133

Institutional Source

Beutler Lab

Gene Symbol

Cbfa2t2

Ensembl Gene

ENSMUSG00000038533

Gene Name

CBFA2/RUNX1 translocation partner 2

Synonyms

Cbfa2t2h, MTGR1, C330013D05Rik

MMRRC Submission

044220-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R6052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154278401-154381276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 154352501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 165 (V165A)

Ref Sequence

ENSEMBL: ENSMUSP00000105347 (fasta)

Gene Model

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

AlphaFold

O70374

Predicted Effect

probably damaging
Transcript: ENSMUST00000045270
AA Change: V165A

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

SMART Domains

Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: V165A

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: V165A

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

SMART Domains

Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: V165A

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: V117A

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

SMART Domains

Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
AA Change: V117A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109725
AA Change: V165A

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

SMART Domains

Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: V165A

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

silent
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

Meta Mutation Damage Score

0.7369

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

96% (80/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,537,165 (GRCm39)	F473L	probably benign	Het
Ankrd17	T	C	5: 90,401,691 (GRCm39)	I1449V	probably benign	Het
Aox4	T	A	1: 58,293,477 (GRCm39)	L943*	probably null	Het
Arap1	G	A	7: 101,053,240 (GRCm39)	V1257M	probably damaging	Het
B3gnt9	T	C	8: 105,981,230 (GRCm39)	S53G	probably benign	Het
Baiap3	A	T	17: 25,467,444 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,187,946 (GRCm39)	D554G	possibly damaging	Het
Ccdc17	C	T	4: 116,457,145 (GRCm39)		probably null	Het
Cdcp1	A	G	9: 123,014,396 (GRCm39)	I126T	probably benign	Het
Cdk13	A	T	13: 17,895,800 (GRCm39)	D1036E	probably damaging	Het
Cfap157	A	G	2: 32,669,863 (GRCm39)	L240P	probably damaging	Het
Clec18a	C	A	8: 111,805,448 (GRCm39)	E218*	probably null	Het
Col3a1	T	C	1: 45,384,173 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,794,227 (GRCm39)	E682G	probably damaging	Het
Dnah14	T	C	1: 181,494,052 (GRCm39)	V1736A	possibly damaging	Het
Dpep2	T	A	8: 106,717,270 (GRCm39)	D162V	possibly damaging	Het
Drd3	C	A	16: 43,641,646 (GRCm39)	P321T	probably benign	Het
Egfr	A	G	11: 16,861,554 (GRCm39)	H1111R	probably benign	Het
Entpd1	T	C	19: 40,708,928 (GRCm39)	S58P	probably damaging	Het
Epha3	C	A	16: 63,423,967 (GRCm39)	V541L	possibly damaging	Het
Eri3	T	A	4: 117,421,825 (GRCm39)	D34E	probably damaging	Het
Eya1	T	C	1: 14,353,374 (GRCm39)	D58G	probably damaging	Het
Fat3	T	A	9: 15,833,975 (GRCm39)	S26C	probably null	Het
Fgl1	T	C	8: 41,653,548 (GRCm39)	D115G	probably damaging	Het
Fitm2	T	C	2: 163,312,036 (GRCm39)	Y59C	probably damaging	Het
Fras1	T	A	5: 96,912,725 (GRCm39)	I3343N	probably damaging	Het
Gba2	C	A	4: 43,568,330 (GRCm39)	C679F	probably damaging	Het
Glis2	G	A	16: 4,431,603 (GRCm39)		probably benign	Het
Gm5150	T	A	3: 16,044,917 (GRCm39)	I103F	probably damaging	Het
Hhipl2	T	C	1: 183,204,965 (GRCm39)	S313P	possibly damaging	Het
Hmgcs1	A	G	13: 120,166,995 (GRCm39)	D474G	probably benign	Het
Homer3	C	T	8: 70,744,076 (GRCm39)	Q267*	probably null	Het
Hsd17b8	A	G	17: 34,246,429 (GRCm39)	L118P	probably damaging	Het
Igkv8-28	C	T	6: 70,120,673 (GRCm39)	G90D	probably damaging	Het
Kalrn	T	A	16: 34,181,255 (GRCm39)	I128F	probably damaging	Het
Krt4	A	G	15: 101,831,194 (GRCm39)		probably null	Het
Lamb2	T	A	9: 108,364,811 (GRCm39)	C1188*	probably null	Het
Lsr	A	T	7: 30,658,042 (GRCm39)	M355K	probably damaging	Het
Map3k11	T	G	19: 5,747,430 (GRCm39)	D555E	probably benign	Het
Myocd	A	G	11: 65,087,082 (GRCm39)	Y282H	probably damaging	Het
Nae1	T	C	8: 105,261,176 (GRCm39)	I7M	probably benign	Het
Nprl3	G	T	11: 32,205,453 (GRCm39)	H102N	possibly damaging	Het
Nup62	T	A	7: 44,478,464 (GRCm39)	F160I	possibly damaging	Het
Or10w1	C	A	19: 13,631,871 (GRCm39)	P26Q	possibly damaging	Het
Or2d3c	A	T	7: 106,525,896 (GRCm39)	F257I	probably benign	Het
Or2r2	T	A	6: 42,463,588 (GRCm39)	T180S	possibly damaging	Het
Or5p76	A	G	7: 108,122,945 (GRCm39)	S71P	probably benign	Het
Or6c35	C	A	10: 129,169,071 (GRCm39)	T107K	possibly damaging	Het
Osbpl10	T	C	9: 114,896,383 (GRCm39)		probably null	Het
Pcdh9	C	T	14: 94,123,282 (GRCm39)	V963I	probably benign	Het
Phf12	A	G	11: 77,909,044 (GRCm39)	R375G	probably benign	Het
Piezo1	G	A	8: 123,233,008 (GRCm39)	T108M	probably damaging	Het
Plxnc1	T	A	10: 94,779,635 (GRCm39)	Q269L	probably benign	Het
Pomgnt1	T	A	4: 116,008,799 (GRCm39)	N11K	possibly damaging	Het
Pramel22	T	A	4: 143,382,222 (GRCm39)	D158V	probably damaging	Het
Prkd1	A	T	12: 50,413,083 (GRCm39)		probably null	Het
Prpf40a	T	C	2: 53,049,293 (GRCm39)	T190A	probably benign	Het
Prrc2b	A	C	2: 32,102,297 (GRCm39)	H790P	possibly damaging	Het
Rest	T	G	5: 77,429,027 (GRCm39)	V482G	probably benign	Het
Ros1	T	A	10: 52,039,999 (GRCm39)	I322L	probably benign	Het
Rpl18	G	A	7: 45,369,554 (GRCm39)		probably benign	Het
Rsad2	G	A	12: 26,500,577 (GRCm39)	H237Y	probably benign	Het
Sbf2	A	G	7: 110,040,741 (GRCm39)	L362S	probably damaging	Het
Sgsm3	A	G	15: 80,893,464 (GRCm39)	T409A	probably benign	Het
Slc16a14	T	C	1: 84,890,430 (GRCm39)	T292A	possibly damaging	Het
Spg11	T	G	2: 121,927,837 (GRCm39)	K649T	probably damaging	Het
Srprb	T	A	9: 103,067,415 (GRCm39)	I268F	possibly damaging	Het
Tap2	G	A	17: 34,433,683 (GRCm39)	G566S	probably damaging	Het
Tecpr2	T	C	12: 110,885,325 (GRCm39)	V168A	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Tmem181a	T	A	17: 6,330,890 (GRCm39)	L50H	probably damaging	Het
Tshz1	A	G	18: 84,032,194 (GRCm39)	I738T	probably damaging	Het
Tspan12	T	C	6: 21,772,637 (GRCm39)	E304G	probably benign	Het
Urb1	C	T	16: 90,559,271 (GRCm39)	G1671S	probably damaging	Het
Vmn2r2	T	C	3: 64,024,782 (GRCm39)	S600G	possibly damaging	Het
Wnt3	C	A	11: 103,699,000 (GRCm39)	Y35*	probably null	Het
Xpo7	T	C	14: 70,921,159 (GRCm39)	Y603C	possibly damaging	Het
Zfp457	G	A	13: 67,442,015 (GRCm39)	H91Y	probably damaging	Het
Zfp664	T	A	5: 124,963,250 (GRCm39)	C215S	unknown	Het
Zfp882	G	A	8: 72,668,349 (GRCm39)	G392D	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
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
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'- AAGTTCAGGTCATTCCTTTGGC -3'
(R):5'- TGCTCCTGGATGCTAACTAGAG -3'

Sequencing Primer
(F):5'- TGGCCTTTCCGTACACTTAATC -3'
(R):5'- CTCCTGGATGCTAACTAGAGTTCTG -3'

Posted On

2017-07-14