Mutagenetix > Incidental Mutation

Incidental Mutation 'R7154:Cbfa2t3'

557149

Institutional Source

Beutler Lab

Gene Symbol

Cbfa2t3

Ensembl Gene

ENSMUSG00000006362

Gene Name

CBFA2/RUNX1 translocation partner 3

Synonyms

MTGR2, A630044F12Rik, ETO-2, Eto2

MMRRC Submission

045256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7154 (G1)

Quality Score

145.008

Status

Validated

Chromosome

Chromosomal Location

123351880-123425848 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 123364883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 300 (Q300*)

Ref Sequence

ENSEMBL: ENSMUSP00000118997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006525] [ENSMUST00000064674] [ENSMUST00000127664] [ENSMUST00000127984] [ENSMUST00000134045]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000006525
AA Change: Q239*

SMART Domains

Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: Q239*

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
TAFH	87	177	5.46e-52	SMART
low complexity region	248	257	N/A	INTRINSIC
Pfam:NHR2	295	361	3.6e-41	PFAM
PDB:2KYG\|C	395	424	3e-10	PDB
Pfam:zf-MYND	472	508	2.6e-10	PFAM
low complexity region	529	552	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000064674
AA Change: Q265*

SMART Domains

Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: Q265*

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
TAFH	113	203	5.46e-52	SMART
low complexity region	274	283	N/A	INTRINSIC
Pfam:NHR2	321	387	7.1e-41	PFAM
PDB:2KYG\|C	421	450	1e-10	PDB
Pfam:zf-MYND	498	534	7.1e-10	PFAM
low complexity region	555	578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000127984
AA Change: Q300*

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: Q300*

Domain	Start	End	E-Value	Type
low complexity region	47	62	N/A	INTRINSIC
TAFH	148	238	5.46e-52	SMART
low complexity region	309	318	N/A	INTRINSIC
Pfam:NHR2	356	422	2.3e-38	PFAM
PDB:2KYG\|C	456	485	2e-10	PDB
Pfam:zf-MYND	533	569	6.9e-10	PFAM
low complexity region	590	613	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134045

SMART Domains

Protein: ENSMUSP00000117630
Gene: ENSMUSG00000006362

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
Pfam:TAFH	111	185	3.7e-33	PFAM

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice that are homozygote null for this gene display skewing of the early myeloid progenitor cells toward the granulocytic/macrophage lineage while reducing the numbers of megakaryocyte-erythroid progenitor cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030423J24Rik	T	C	13: 71,032,344 (GRCm39)	F139L	unknown	Het
Adgre1	G	A	17: 57,751,087 (GRCm39)		probably null	Het
Agap2	A	G	10: 126,927,524 (GRCm39)	D1135G	probably benign	Het
Akp3	T	C	1: 87,052,946 (GRCm39)	L45P	probably damaging	Het
Arfgap3	A	T	15: 83,220,905 (GRCm39)	W71R	probably damaging	Het
Asic3	G	A	5: 24,618,660 (GRCm39)		probably benign	Het
Asph	A	T	4: 9,630,930 (GRCm39)	N139K	possibly damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
Auts2	A	T	5: 131,480,731 (GRCm39)	S255T		Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Cacnb1	A	G	11: 97,895,959 (GRCm39)	L443P	probably damaging	Het
Ccer1	A	T	10: 97,530,201 (GRCm39)	D288V	unknown	Het
Col18a1	G	A	10: 76,908,799 (GRCm39)	P611S	probably benign	Het
Cpa6	T	A	1: 10,407,694 (GRCm39)	D281V	possibly damaging	Het
Cyp2e1	A	G	7: 140,350,050 (GRCm39)	Y245C	probably damaging	Het
Cyp4a31	T	C	4: 115,431,963 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,589,966 (GRCm39)		probably null	Het
Entpd1	T	C	19: 40,713,430 (GRCm39)	Y188H	probably damaging	Het
Epb42	T	C	2: 120,863,843 (GRCm39)	D111G	probably benign	Het
Espl1	A	G	15: 102,232,484 (GRCm39)	D2064G	probably damaging	Het
Fat3	A	C	9: 15,908,160 (GRCm39)	V2614G	probably damaging	Het
Fos	A	T	12: 85,520,931 (GRCm39)	M40L	probably benign	Het
Frmd4b	T	A	6: 97,283,707 (GRCm39)	E434V	probably damaging	Het
Galnt6	A	T	15: 100,591,345 (GRCm39)	D586E	probably benign	Het
Gapvd1	T	C	2: 34,615,075 (GRCm39)	K474R	probably damaging	Het
Gimap8	T	A	6: 48,633,122 (GRCm39)	F314I	probably damaging	Het
Gm14393	T	G	2: 174,903,576 (GRCm39)	K110N	probably damaging	Het
Gm4131	C	A	14: 62,718,382 (GRCm39)	A75S	probably damaging	Het
Heatr6	G	A	11: 83,668,067 (GRCm39)	V854I	probably benign	Het
Hic2	T	A	16: 17,076,806 (GRCm39)	M545K	possibly damaging	Het
Ift70b	C	T	2: 75,768,405 (GRCm39)	R116H	possibly damaging	Het
Ip6k1	A	G	9: 107,922,861 (GRCm39)	Y331C	probably damaging	Het
Kalrn	C	T	16: 34,032,527 (GRCm39)		probably null	Het
Kxd1	T	C	8: 70,968,084 (GRCm39)	K88E	probably damaging	Het
Lrrc37a	A	C	11: 103,393,682 (GRCm39)	V581G	probably benign	Het
Mex3d	A	T	10: 80,222,584 (GRCm39)	V224E		Het
Mtx2	T	A	2: 74,706,762 (GRCm39)	C246S	probably damaging	Het
Mybbp1a	A	G	11: 72,338,468 (GRCm39)		probably null	Het
Myh6	A	G	14: 55,197,764 (GRCm39)	I458T	probably benign	Het
Ndufs6	A	G	13: 73,468,411 (GRCm39)	V96A	possibly damaging	Het
Nemf	A	T	12: 69,363,515 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,349,950 (GRCm39)	S2397G	probably benign	Het
Or4c15b	A	G	2: 89,113,204 (GRCm39)	I91T	probably damaging	Het
Or6ae1	T	C	7: 139,741,997 (GRCm39)	I289V	probably benign	Het
Osbpl1a	T	C	18: 12,901,649 (GRCm39)	E619G	probably benign	Het
Pfkl	T	C	10: 77,837,289 (GRCm39)	R95G	probably benign	Het
Plat	T	A	8: 23,268,521 (GRCm39)	I391K	possibly damaging	Het
Ppp1r21	A	G	17: 88,862,314 (GRCm39)	H244R	probably damaging	Het
Rapgef3	G	C	15: 97,651,758 (GRCm39)	H578Q	probably benign	Het
Rnf145	C	A	11: 44,415,822 (GRCm39)	N12K	probably damaging	Het
Sfxn5	C	T	6: 85,309,405 (GRCm39)	C100Y	unknown	Het
Sh3rf1	T	A	8: 61,825,748 (GRCm39)	L581Q	possibly damaging	Het
Sipa1l2	T	C	8: 126,195,078 (GRCm39)	K887E	probably benign	Het
Spopfm2	A	G	3: 94,083,526 (GRCm39)	I95T	probably benign	Het
Stard9	C	A	2: 120,531,795 (GRCm39)	T2684N	probably benign	Het
Stard9	A	C	2: 120,535,023 (GRCm39)	Q3760P	probably benign	Het
Stpg2	A	G	3: 138,921,056 (GRCm39)	E87G	probably benign	Het
Syne2	A	G	12: 76,106,231 (GRCm39)	Q792R	possibly damaging	Het
Taf7	T	C	18: 37,775,601 (GRCm39)	D322G	possibly damaging	Het
Tbc1d1	A	G	5: 64,331,156 (GRCm39)	S112G	possibly damaging	Het
Tbx3	A	G	5: 119,810,093 (GRCm39)	M5V	possibly damaging	Het
Tmem45b	A	T	9: 31,339,328 (GRCm39)	I215N	possibly damaging	Het
Tpd52	G	A	3: 9,028,916 (GRCm39)	Q43*	probably null	Het
Trpa1	T	A	1: 14,952,457 (GRCm39)	N858I	possibly damaging	Het
Ttll5	A	G	12: 85,972,538 (GRCm39)	D767G	probably damaging	Het
Vmn2r3	G	A	3: 64,194,732 (GRCm39)	T62I	probably benign	Het
Wdr59	A	T	8: 112,185,367 (GRCm39)	N874K		Het

Other mutations in Cbfa2t3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02095:Cbfa2t3	APN	8	123,360,232 (GRCm39)	missense	probably damaging	1.00
IGL02578:Cbfa2t3	APN	8	123,360,187 (GRCm39)	missense	possibly damaging	0.83
IGL02934:Cbfa2t3	APN	8	123,374,497 (GRCm39)	missense	probably benign	0.03
IGL03089:Cbfa2t3	APN	8	123,361,873 (GRCm39)	missense	probably damaging	1.00
R0196:Cbfa2t3	UTSW	8	123,360,076 (GRCm39)	missense	possibly damaging	0.77
R0365:Cbfa2t3	UTSW	8	123,361,799 (GRCm39)	missense	probably benign	0.23
R0395:Cbfa2t3	UTSW	8	123,365,690 (GRCm39)	missense	probably benign	0.09
R0784:Cbfa2t3	UTSW	8	123,377,226 (GRCm39)	splice site	probably benign
R0835:Cbfa2t3	UTSW	8	123,374,517 (GRCm39)	missense	probably benign	0.00
R1608:Cbfa2t3	UTSW	8	123,374,448 (GRCm39)	missense	probably damaging	0.99
R2008:Cbfa2t3	UTSW	8	123,370,032 (GRCm39)	missense	probably damaging	0.99
R2088:Cbfa2t3	UTSW	8	123,364,725 (GRCm39)	unclassified	probably benign
R2095:Cbfa2t3	UTSW	8	123,361,727 (GRCm39)	missense	probably benign
R4079:Cbfa2t3	UTSW	8	123,374,434 (GRCm39)	splice site	probably null
R4175:Cbfa2t3	UTSW	8	123,370,057 (GRCm39)	missense	probably damaging	1.00
R5013:Cbfa2t3	UTSW	8	123,365,598 (GRCm39)	missense	possibly damaging	0.95
R5141:Cbfa2t3	UTSW	8	123,361,760 (GRCm39)	missense	probably benign	0.24
R5391:Cbfa2t3	UTSW	8	123,360,134 (GRCm39)	nonsense	probably null
R6067:Cbfa2t3	UTSW	8	123,370,236 (GRCm39)	missense	probably benign	0.00
R6078:Cbfa2t3	UTSW	8	123,370,236 (GRCm39)	missense	probably benign	0.00
R6192:Cbfa2t3	UTSW	8	123,361,135 (GRCm39)	missense	probably benign	0.00
R6281:Cbfa2t3	UTSW	8	123,360,148 (GRCm39)	missense	probably damaging	1.00
R6520:Cbfa2t3	UTSW	8	123,362,540 (GRCm39)	missense	probably benign	0.02
R6936:Cbfa2t3	UTSW	8	123,374,478 (GRCm39)	missense	probably damaging	0.97
R7196:Cbfa2t3	UTSW	8	123,365,729 (GRCm39)	missense	probably benign	0.26
R7295:Cbfa2t3	UTSW	8	123,364,768 (GRCm39)	missense	probably benign	0.02
R7514:Cbfa2t3	UTSW	8	123,361,865 (GRCm39)	missense	probably damaging	1.00
R7616:Cbfa2t3	UTSW	8	123,360,076 (GRCm39)	missense	possibly damaging	0.87
R8070:Cbfa2t3	UTSW	8	123,369,720 (GRCm39)	missense	possibly damaging	0.81
R8485:Cbfa2t3	UTSW	8	123,357,517 (GRCm39)	missense	probably damaging	0.97
R8534:Cbfa2t3	UTSW	8	123,365,653 (GRCm39)	missense	probably damaging	1.00
R9718:Cbfa2t3	UTSW	8	123,364,936 (GRCm39)	missense	probably benign	0.25
U15987:Cbfa2t3	UTSW	8	123,370,236 (GRCm39)	missense	probably benign	0.00
Z1176:Cbfa2t3	UTSW	8	123,425,634 (GRCm39)	start gained	probably benign
Z1177:Cbfa2t3	UTSW	8	123,357,496 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCAGACCTCAAGCGGTTG -3'
(R):5'- TCCATTCTTCACCAGGAGCC -3'

Sequencing Primer
(F):5'- GTTGACGGCCCTCTCACAC -3'
(R):5'- ACCAGAACCCAGTGTGTGTGTG -3'

Posted On

2019-06-26