Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Cbfa2t3'

23440

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

038455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0196 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

123351880-123425848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123360076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 525 (Q525R)

Ref Sequence

ENSEMBL: ENSMUSP00000118997 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006525
AA Change: Q464R

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: Q464R

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

possibly damaging
Transcript: ENSMUST00000064674
AA Change: Q490R

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: Q490R

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

possibly damaging
Transcript: ENSMUST00000127984
AA Change: Q525R

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: Q525R

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Trp53	A	G	11: 69,479,506 (GRCm39)	Y202C	probably damaging	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	probably damaging	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
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
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'- TCAGTGGAATGTGTCAGACCCCAG -3'
(R):5'- GGTGACTGCCATCCTACGTTTGTG -3'

Sequencing Primer
(F):5'- Ttctctctctctctctctctctctc -3'
(R):5'- CCTACGTTTGTGCTTTACAGAAG -3'

Posted On

2013-04-16