Mutagenetix > Incidental Mutation

Incidental Mutation 'R6192:Cbfa2t3'

502653

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

044332-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123351880-123425848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123361135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 395 (S395P)

Ref Sequence

ENSEMBL: ENSMUSP00000006525 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006525
AA Change: S395P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: S395P

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 benign
Transcript: ENSMUST00000064674
AA Change: S421P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: S421P

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 benign
Transcript: ENSMUST00000127984
AA Change: S456P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: S456P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142535

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,774,002 (GRCm39)	E1137G	probably damaging	Het
Adcy9	T	C	16: 4,105,818 (GRCm39)	I1099V	probably benign	Het
Angptl4	A	T	17: 33,996,015 (GRCm39)	N320K	probably benign	Het
Atp6v0a2	G	A	5: 124,767,268 (GRCm39)	M10I	probably benign	Het
Bltp1	C	T	3: 37,042,318 (GRCm39)	T2768I	probably benign	Het
Cenpe	C	T	3: 134,954,291 (GRCm39)	T1716I	possibly damaging	Het
Chsy1	T	C	7: 65,820,625 (GRCm39)	Y287H	probably benign	Het
Col4a4	G	T	1: 82,462,151 (GRCm39)	P1075T	probably damaging	Het
Cryab	T	A	9: 50,665,813 (GRCm39)	M68K	probably damaging	Het
Cybrd1	T	A	2: 70,967,858 (GRCm39)	L143Q	probably null	Het
Dcaf7	T	C	11: 105,942,584 (GRCm39)	V177A	probably damaging	Het
Dclk2	T	C	3: 86,722,457 (GRCm39)	Y392C	probably damaging	Het
Ddx20	T	C	3: 105,586,036 (GRCm39)	T770A	probably benign	Het
Dennd1b	T	A	1: 139,095,456 (GRCm39)	D501E	probably benign	Het
Dgkh	A	T	14: 78,865,504 (GRCm39)	Y26*	probably null	Het
Dnajc2	A	G	5: 21,973,646 (GRCm39)	V196A	probably damaging	Het
Etl4	A	G	2: 20,806,362 (GRCm39)	K827E	probably damaging	Het
Fam8a1	C	T	13: 46,823,099 (GRCm39)	P13L	probably damaging	Het
Gfra3	T	C	18: 34,837,582 (GRCm39)	S139G	possibly damaging	Het
Ggnbp1	G	A	17: 27,248,847 (GRCm39)	V139I	possibly damaging	Het
Gja1	T	A	10: 56,264,330 (GRCm39)	Y230N	probably damaging	Het
Gldc	A	G	19: 30,111,172 (GRCm39)	S535P	probably damaging	Het
Gm45871	A	G	18: 90,610,357 (GRCm39)	T532A	probably benign	Het
Gm5431	T	A	11: 48,785,220 (GRCm39)	D107V	probably benign	Het
Herc2	C	T	7: 55,857,510 (GRCm39)	T4031M	probably damaging	Het
Iffo2	G	A	4: 139,333,769 (GRCm39)	A282T	probably damaging	Het
Ifi44	T	G	3: 151,451,276 (GRCm39)		probably null	Het
Igkv4-53	C	T	6: 69,625,915 (GRCm39)	R62H	possibly damaging	Het
Lrp11	A	C	10: 7,474,454 (GRCm39)		probably null	Het
Lrp4	A	G	2: 91,338,833 (GRCm39)	T1755A	probably benign	Het
Mcm3ap	A	T	10: 76,336,934 (GRCm39)	K1316M	probably damaging	Het
Mctp1	T	G	13: 76,971,082 (GRCm39)		probably null	Het
Mroh5	A	T	15: 73,662,630 (GRCm39)	I396N	probably damaging	Het
Mrps5	T	A	2: 127,443,305 (GRCm39)	H294Q	probably damaging	Het
Muc16	A	T	9: 18,569,985 (GRCm39)	S845T	unknown	Het
Mycbpap	A	T	11: 94,398,557 (GRCm39)	V474E	probably damaging	Het
Mzt2	G	C	16: 15,666,551 (GRCm39)	S122W	probably benign	Het
Neb	T	C	2: 52,146,802 (GRCm39)	I2821V	probably benign	Het
Ngef	A	T	1: 87,415,622 (GRCm39)	D347E	probably damaging	Het
Nlrp14	T	C	7: 106,781,646 (GRCm39)	V281A	probably benign	Het
Obscn	A	T	11: 58,888,864 (GRCm39)	Y7597N	unknown	Het
Or4k47	T	C	2: 111,451,520 (GRCm39)	R300G	possibly damaging	Het
Patj	G	T	4: 98,344,394 (GRCm39)	G569W	probably damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Phf2	T	A	13: 48,973,583 (GRCm39)	T361S	unknown	Het
Pik3r6	A	G	11: 68,434,455 (GRCm39)	E552G	probably damaging	Het
Pitx2	A	G	3: 129,009,521 (GRCm39)	T147A	probably benign	Het
Pkmyt1	G	A	17: 23,953,167 (GRCm39)	G241D	probably damaging	Het
Pola2	A	T	19: 6,003,802 (GRCm39)	V191D	possibly damaging	Het
Ralgapb	T	A	2: 158,291,367 (GRCm39)		probably null	Het
Rapgef4	T	C	2: 71,811,661 (GRCm39)	S11P	probably benign	Het
Rnf10	G	A	5: 115,395,136 (GRCm39)	R151C	probably damaging	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sbno2	A	T	10: 79,895,850 (GRCm39)	L977Q	probably damaging	Het
Sec14l3	G	A	11: 4,025,566 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,600,612 (GRCm39)	N243K	possibly damaging	Het
Slco2b1	T	A	7: 99,334,779 (GRCm39)	I231F	probably damaging	Het
Spag8	A	G	4: 43,652,458 (GRCm39)	F294S	probably damaging	Het
Speer4f1	G	A	5: 17,684,493 (GRCm39)	A174T	probably damaging	Het
Spred3	T	C	7: 28,862,402 (GRCm39)	D147G	probably benign	Het
Stard9	A	G	2: 120,527,241 (GRCm39)	D1166G	probably damaging	Het
Svep1	G	T	4: 58,104,536 (GRCm39)	T1229K	possibly damaging	Het
Tanc1	T	A	2: 59,669,305 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,737,800 (GRCm39)	Y420C	probably damaging	Het
Tubd1	A	T	11: 86,448,619 (GRCm39)	M311L	probably benign	Het
Tulp3	G	A	6: 128,332,703 (GRCm39)		probably null	Het
Usp42	T	C	5: 143,702,942 (GRCm39)	T560A	possibly damaging	Het
Vmn1r170	A	T	7: 23,305,934 (GRCm39)	Y112F	probably damaging	Het
Vmn2r4	A	T	3: 64,322,699 (GRCm39)	C7S	probably benign	Het
Wrn	A	G	8: 33,774,682 (GRCm39)	M652T	probably benign	Het
Wsb1	G	A	11: 79,139,336 (GRCm39)	P120L	possibly damaging	Het
Zfp142	T	C	1: 74,609,667 (GRCm39)	E1376G	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	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
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
R7154:Cbfa2t3	UTSW	8	123,364,883 (GRCm39)	nonsense	probably null
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'- CAAACTTGCCTCGTGTGGAG -3'
(R):5'- GTGAAGCCCTCTTTCCCAAG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- TCCCAAGAGGAAAGATACTTCTTGC -3'

Posted On

2018-02-27