Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Cbfa2t2'

390999

Institutional Source

Beutler Lab

Gene Symbol

Cbfa2t2

Ensembl Gene

ENSMUSG00000038533

Gene Name

CBFA2/RUNX1 translocation partner 2

Synonyms

Cbfa2t2h, MTGR1, C330013D05Rik

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154278401-154381276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154346665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 124 (I124N)

Ref Sequence

ENSEMBL: ENSMUSP00000043087 (fasta)

Gene Model

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

AlphaFold

O70374

Predicted Effect

probably damaging
Transcript: ENSMUST00000045270
AA Change: I124N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043087
Gene: ENSMUSG00000038533
AA Change: I124N

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: I124N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096782
Gene: ENSMUSG00000038533
AA Change: I124N

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: I76N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105346
Gene: ENSMUSG00000038533
AA Change: I76N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109725
AA Change: I124N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105347
Gene: ENSMUSG00000038533
AA Change: I124N

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

unknown
Transcript: ENSMUST00000155202
AA Change: I181N

SMART Domains

Protein: ENSMUSP00000116220
Gene: ENSMUSG00000038533
AA Change: I181N

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

Meta Mutation Damage Score

0.6982

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,292,625 (GRCm39)	Y222C	probably damaging	Het
Adprs	A	G	4: 126,212,238 (GRCm39)	S94P	probably damaging	Het
Atp11b	A	G	3: 35,863,510 (GRCm39)	E202G	probably benign	Het
Cacna1d	G	T	14: 29,836,201 (GRCm39)	S849*	probably null	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Ccdc13	A	T	9: 121,646,613 (GRCm39)		probably benign	Het
Cfap44	G	A	16: 44,240,567 (GRCm39)		probably null	Het
Col17a1	C	A	19: 47,673,989 (GRCm39)	E13*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dennd6b	A	G	15: 89,071,553 (GRCm39)	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,499,295 (GRCm39)	Y638D	probably benign	Het
Epb41	G	A	4: 131,734,746 (GRCm39)		probably benign	Het
Esp31	A	T	17: 38,955,500 (GRCm39)	I48L	possibly damaging	Het
Fat3	T	C	9: 15,908,154 (GRCm39)	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,265,919 (GRCm39)	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262 (GRCm38)	E1792*	probably null	Het
Fzd2	G	A	11: 102,495,633 (GRCm39)	G26R	probably damaging	Het
Gm11677	T	A	11: 111,616,264 (GRCm39)		noncoding transcript	Het
Gm7137	A	T	10: 77,623,905 (GRCm39)		probably benign	Het
Hnrnpr	A	G	4: 136,063,648 (GRCm39)	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,484 (GRCm39)	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,299,833 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,706,421 (GRCm39)		probably null	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Muc6	T	C	7: 141,230,491 (GRCm39)	D1213G	probably benign	Het
Ncam1	A	C	9: 49,709,995 (GRCm39)	F12C	probably benign	Het
Nfxl1	A	T	5: 72,713,582 (GRCm39)	D120E	probably benign	Het
Nrg1	T	C	8: 32,314,587 (GRCm39)	Q142R	probably damaging	Het
Or10c1	A	G	17: 37,522,558 (GRCm39)	L62P	probably damaging	Het
Or1j18	T	G	2: 36,625,011 (GRCm39)	L226R	possibly damaging	Het
Or2h15	G	A	17: 38,441,432 (GRCm39)	S217F	probably damaging	Het
Or56a4	T	C	7: 104,806,355 (GRCm39)	N178S	probably damaging	Het
Or5k16	T	C	16: 58,736,435 (GRCm39)	T190A	probably benign	Het
Or8c10	C	A	9: 38,279,220 (GRCm39)	T116K	probably damaging	Het
Or8g30	C	A	9: 39,229,960 (GRCm39)	V317L	probably benign	Het
Or9s18	C	A	13: 65,300,743 (GRCm39)	A235D	possibly damaging	Het
Padi2	G	T	4: 140,659,432 (GRCm39)	V246L	probably benign	Het
Pgghg	C	T	7: 140,522,455 (GRCm39)	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,758 (GRCm39)	N1117S	probably benign	Het
Plch1	G	T	3: 63,630,202 (GRCm39)	T534K	probably damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Polr3c	T	C	3: 96,630,833 (GRCm39)	I196V	probably benign	Het
Prph	A	T	15: 98,953,113 (GRCm39)		probably benign	Het
Ptprg	C	A	14: 12,037,387 (GRCm38)	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,941,463 (GRCm39)	I183N	probably damaging	Het
Rundc1	T	C	11: 101,316,363 (GRCm39)	L145P	probably benign	Het
Slc26a3	A	G	12: 31,520,964 (GRCm39)	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,536,390 (GRCm39)	E2G	possibly damaging	Het
Slc9a5	G	T	8: 106,082,490 (GRCm39)	V252L	probably benign	Het
Smim26	C	T	2: 144,437,043 (GRCm39)	T64M	probably benign	Het
Socs4	C	T	14: 47,527,589 (GRCm39)	R175*	probably null	Het
Srebf2	T	C	15: 82,066,251 (GRCm39)	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,636,705 (GRCm39)	S115T	probably damaging	Het
Tenm2	T	C	11: 36,097,907 (GRCm39)	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,896,591 (GRCm39)	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,061,250 (GRCm39)	V300A	probably benign	Het
Tle6	T	A	10: 81,430,072 (GRCm39)	N332I	possibly damaging	Het
Tle6	C	A	10: 81,431,791 (GRCm39)	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,108,408 (GRCm39)	V36M	probably damaging	Het
Tns2	T	C	15: 102,016,295 (GRCm39)	I211T	possibly damaging	Het
Trp63	A	G	16: 25,701,344 (GRCm39)	N379D	probably damaging	Het
Trpc2	T	C	7: 101,738,316 (GRCm39)	W433R	probably damaging	Het
Tyw1	T	A	5: 130,305,927 (GRCm39)	L350Q	probably benign	Het
Usf3	T	C	16: 44,033,070 (GRCm39)	L76P	probably damaging	Het
Vmn2r79	T	C	7: 86,651,423 (GRCm39)	L274P	probably damaging	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
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'- AGTTCTGCACTCACTGACTC -3'
(R):5'- TGACAAACAAATGCTGCTACG -3'

Sequencing Primer
(F):5'- TTAGTAAGCAATGGCATCAACC -3'
(R):5'- TGACAAACAAATGCTGCTACGAAATC -3'

Posted On

2016-06-06