Mutagenetix > Incidental Mutation

Incidental Mutation 'R9569:Cbfa2t2'

721819

Institutional Source

Beutler Lab

Gene Symbol

Cbfa2t2

Ensembl Gene

ENSMUSG00000038533

Gene Name

CBFA2/RUNX1 translocation partner 2

Synonyms

Cbfa2t2h, MTGR1, C330013D05Rik

MMRRC Submission

068966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R9569 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154278401-154381276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154346485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 64 (I64N)

Ref Sequence

ENSEMBL: ENSMUSP00000043087 (fasta)

Gene Model

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

AlphaFold

O70374

Predicted Effect

probably benign
Transcript: ENSMUST00000045270
AA Change: I64N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: I64N

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
AA Change: I64N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: I64N

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 benign
Transcript: ENSMUST00000109724
AA Change: I16N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
AA Change: I16N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109725
AA Change: I64N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: I64N

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

SMART Domains

Protein: ENSMUSP00000116220
Gene: ENSMUSG00000038533
AA Change: I121N

Domain	Start	End	E-Value	Type
low complexity region	91	110	N/A	INTRINSIC
Pfam:TAFH	164	192	7.1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,503,763 (GRCm39)	V356D	probably damaging	Het
Adgrd1	T	C	5: 129,256,701 (GRCm39)	V690A	possibly damaging	Het
Apba2	T	C	7: 64,393,138 (GRCm39)	M553T	possibly damaging	Het
Apeh	C	T	9: 107,971,609 (GRCm39)	V13M	unknown	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Apol7e	C	T	15: 77,601,933 (GRCm39)	T177I	probably damaging	Het
Bltp1	T	C	3: 37,066,770 (GRCm39)	M211T		Het
Bub1b	T	C	2: 118,468,884 (GRCm39)	I883T	probably damaging	Het
C9	T	C	15: 6,489,062 (GRCm39)	S140P	probably damaging	Het
Cd180	A	T	13: 102,842,486 (GRCm39)	I511F	possibly damaging	Het
Cic	T	C	7: 24,972,120 (GRCm39)	V617A	possibly damaging	Het
Clca3a2	A	C	3: 144,513,075 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,759,979 (GRCm39)	T1394A	probably damaging	Het
Dclk1	A	T	3: 55,387,852 (GRCm39)	E422D	probably benign	Het
Depdc5	A	T	5: 33,025,321 (GRCm39)	D21V	probably damaging	Het
Dis3l	A	G	9: 64,236,829 (GRCm39)	F40S	unknown	Het
Duox1	T	C	2: 122,148,971 (GRCm39)	V82A	probably benign	Het
Dus2	T	C	8: 106,771,507 (GRCm39)	V211A	probably damaging	Het
Eif2ak4	G	A	2: 118,251,316 (GRCm39)	S326N	probably benign	Het
Fat3	A	C	9: 15,830,495 (GRCm39)	L153R		Het
Gpx8	C	T	13: 113,182,125 (GRCm39)	V103I	probably damaging	Het
Gtf2a1l	A	G	17: 89,001,948 (GRCm39)	D268G	probably benign	Het
Hc	T	C	2: 34,926,359 (GRCm39)	I342V	probably benign	Het
Hsp90ab1	T	A	17: 45,879,878 (GRCm39)	D546V	possibly damaging	Het
Ifi206	T	G	1: 173,314,209 (GRCm39)	D77A		Het
Igfbp1	A	G	11: 7,147,881 (GRCm39)		probably benign	Het
Kdm3a	T	C	6: 71,584,434 (GRCm39)	D559G	probably benign	Het
Kif2a	A	G	13: 107,105,246 (GRCm39)	I565T	probably benign	Het
Krt1c	T	C	15: 101,724,924 (GRCm39)	T229A	probably damaging	Het
Lcmt2	G	A	2: 120,970,522 (GRCm39)	A187V	probably damaging	Het
Mapk8ip1	A	G	2: 92,217,599 (GRCm39)	M241T	probably benign	Het
Mup15	T	C	4: 61,357,875 (GRCm39)		probably benign	Het
Myo9b	T	C	8: 71,811,629 (GRCm39)	V1912A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Net1	A	G	13: 3,938,518 (GRCm39)	F123S	probably benign	Het
Or1j8	T	C	2: 36,191,946 (GRCm39)	Y132H	probably damaging	Het
Or52n2	C	T	7: 104,542,525 (GRCm39)	M103I	possibly damaging	Het
Or5h17	A	G	16: 58,820,228 (GRCm39)	Y60C	probably damaging	Het
Pcdhb13	T	C	18: 37,576,153 (GRCm39)	F177S	probably damaging	Het
Pclo	T	C	5: 14,907,065 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,039 (GRCm39)	T528A	probably benign	Het
Pik3c2a	C	T	7: 115,957,939 (GRCm39)	A1116T	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Psd	A	T	19: 46,308,717 (GRCm39)	C639S	possibly damaging	Het
Rffl	T	A	11: 82,703,264 (GRCm39)	T220S	probably benign	Het
Scn2a	A	G	2: 65,560,622 (GRCm39)	D1284G	probably damaging	Het
Scube1	T	C	15: 83,513,605 (GRCm39)	Y385C	probably damaging	Het
Sec14l3	A	T	11: 4,026,324 (GRCm39)	D388V	probably damaging	Het
Slc26a1	G	T	5: 108,819,460 (GRCm39)	Q596K	probably benign	Het
Slc6a19	T	C	13: 73,834,030 (GRCm39)	T343A	probably benign	Het
Slc7a4	A	G	16: 17,393,262 (GRCm39)	V179A		Het
Sox14	T	G	9: 99,757,562 (GRCm39)	D49A		Het
Spata31g1	G	C	4: 42,971,740 (GRCm39)	V358L	probably benign	Het
Timm22	A	G	11: 76,298,196 (GRCm39)	S56G	probably benign	Het
Tmub2	G	A	11: 102,179,153 (GRCm39)	W322*	probably null	Het
Tsc22d4	A	G	5: 137,756,428 (GRCm39)	T8A	probably benign	Het
Ttn	T	C	2: 76,539,652 (GRCm39)	I34445V	probably benign	Het
Tyms	A	T	5: 30,268,360 (GRCm39)	Y196*	probably null	Het
Ube2o	G	A	11: 116,434,823 (GRCm39)	T546M	probably damaging	Het
Umodl1	A	G	17: 31,217,143 (GRCm39)	Y1125C	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unk	A	T	11: 115,950,035 (GRCm39)	Q747L	probably damaging	Het
Vmn1r170	A	G	7: 23,306,294 (GRCm39)	E232G	probably benign	Het
Vps41	A	G	13: 19,013,396 (GRCm39)	Y338C	possibly damaging	Het
Washc5	T	C	15: 59,215,980 (GRCm39)	M800V	probably benign	Het
Wt1	T	A	2: 104,993,711 (GRCm39)	I348N	possibly damaging	Het
Xirp2	A	G	2: 67,341,242 (GRCm39)	Y1161C	probably damaging	Het
Xpo7	A	G	14: 70,906,140 (GRCm39)	M1001T	possibly damaging	Het
Yeats2	A	T	16: 19,972,902 (GRCm39)	R19W	probably damaging	Het
Zfp142	T	C	1: 74,615,386 (GRCm39)	T476A	probably damaging	Het
Zfp229	T	C	17: 21,964,573 (GRCm39)	W268R	possibly damaging	Het
Zfp473	A	G	7: 44,388,971 (GRCm39)	F50S	probably damaging	Het
Zfp975	A	T	7: 42,311,413 (GRCm39)	M400K	probably benign	Het
Zkscan5	A	G	5: 145,144,419 (GRCm39)	M150V	probably benign	Het
Znfx1	T	A	2: 166,897,875 (GRCm39)	I350F		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
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

Predicted Primers

PCR Primer
(F):5'- TTTGTCTTGACACACAGCAAACTC -3'
(R):5'- TTACCACCAAGGCTAGAACG -3'

Sequencing Primer
(F):5'- CACACAGCAAACTCATTGAGGGTG -3'
(R):5'- GGTGAGATATCATTGCCAAACTGCTG -3'

Posted On

2022-08-09