Mutagenetix > Incidental Mutation

Incidental Mutation 'R6520:Cbfa2t3'

521150

Institutional Source

Beutler Lab

Gene Symbol

Cbfa2t3

Ensembl Gene

ENSMUSG00000006362

Gene Name

CBFA2/RUNX1 translocation partner 3

Synonyms

MTGR2, A630044F12Rik, ETO-2, Eto2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123351880-123425848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123362540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 302 (R302W)

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: R302W

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: R302W

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: R328W

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

SMART Domains

Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: R328W

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: R363W

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: R363W

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,467,285 (GRCm39)	D116G	possibly damaging	Het
Adam22	C	T	5: 8,166,635 (GRCm39)	V699M	probably damaging	Het
Adh7	A	G	3: 137,929,771 (GRCm39)	Y149C	probably damaging	Het
Adissp	G	T	2: 130,989,174 (GRCm39)	H111N	probably damaging	Het
Angptl3	A	C	4: 98,926,085 (GRCm39)	N405T	probably benign	Het
Ank3	A	G	10: 69,824,217 (GRCm39)	H180R	probably damaging	Het
Apob	T	A	12: 8,033,124 (GRCm39)	I159N	probably damaging	Het
Arhgap24	T	C	5: 103,028,659 (GRCm39)	V185A	probably benign	Het
Atf6	A	T	1: 170,695,238 (GRCm39)	H11Q	probably benign	Het
Atxn3	C	A	12: 101,900,660 (GRCm39)	D208Y	probably damaging	Het
Brd9	G	A	13: 74,090,913 (GRCm39)	R273K	probably benign	Het
Ccdc175	C	A	12: 72,186,804 (GRCm39)	G347C	probably damaging	Het
Ccdc87	A	G	19: 4,891,817 (GRCm39)	K770E	probably damaging	Het
Ccl17	T	C	8: 95,537,178 (GRCm39)	F27L	probably benign	Het
Cd3g	A	T	9: 44,882,613 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,809,082 (GRCm39)	V498A	probably benign	Het
Cfap45	A	G	1: 172,368,151 (GRCm39)	D381G	probably damaging	Het
Cfap46	A	G	7: 139,194,321 (GRCm39)		probably null	Het
Cnrip1	T	A	11: 17,028,536 (GRCm39)	M156K	probably damaging	Het
Col23a1	T	C	11: 51,440,552 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,269,152 (GRCm39)	G933S	probably damaging	Het
Col5a3	C	T	9: 20,685,348 (GRCm39)	V1443I	unknown	Het
Col6a6	T	C	9: 105,663,024 (GRCm39)	E171G	possibly damaging	Het
Dennd1a	A	T	2: 37,851,759 (GRCm39)		probably null	Het
Dlk2	C	T	17: 46,613,438 (GRCm39)	T188I	probably damaging	Het
Dusp8	A	G	7: 141,637,418 (GRCm39)	I203T	probably damaging	Het
Eno2	C	T	6: 124,744,678 (GRCm39)	R56H	probably damaging	Het
Erich3	A	T	3: 154,469,102 (GRCm39)	T1185S	probably damaging	Het
Evi5l	A	T	8: 4,255,906 (GRCm39)	Q575L	possibly damaging	Het
Fam187a	T	A	11: 102,776,701 (GRCm39)	H168Q	possibly damaging	Het
Fat2	T	A	11: 55,175,814 (GRCm39)	E1633V	probably damaging	Het
Fbln2	G	A	6: 91,236,641 (GRCm39)	D719N	probably damaging	Het
Fbn2	A	T	18: 58,235,462 (GRCm39)	S672T	probably damaging	Het
Gas8	C	G	8: 124,253,213 (GRCm39)	A187G	probably benign	Het
Gm2696	G	A	10: 77,672,332 (GRCm39)		probably benign	Het
Gnl1	A	T	17: 36,293,845 (GRCm39)	K272M	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hemgn	T	G	4: 46,396,466 (GRCm39)	K257Q	probably damaging	Het
Hgsnat	T	C	8: 26,443,328 (GRCm39)	Y474C	probably damaging	Het
Hoxc4	T	C	15: 102,943,380 (GRCm39)	S78P	probably benign	Het
Igkv14-100	T	A	6: 68,496,218 (GRCm39)	L37Q	probably damaging	Het
Iqck	A	T	7: 118,540,854 (GRCm39)	K251M	probably damaging	Het
Itgal	A	T	7: 126,929,503 (GRCm39)	Q1140L	probably benign	Het
Itpka	A	G	2: 119,581,259 (GRCm39)	R431G	probably benign	Het
Jade1	A	G	3: 41,558,917 (GRCm39)	N333D	possibly damaging	Het
Jmjd7	A	G	2: 119,861,800 (GRCm39)	H181R	probably damaging	Het
Jmy	A	G	13: 93,590,547 (GRCm39)	S519P	probably benign	Het
Klra10	T	A	6: 130,252,755 (GRCm39)	H173L	probably benign	Het
Krt72	T	G	15: 101,689,481 (GRCm39)	I284L	probably benign	Het
Krt78	C	A	15: 101,860,206 (GRCm39)	V237F	probably benign	Het
Mapkapk3	G	A	9: 107,134,648 (GRCm39)	T296M	probably damaging	Het
Mcmbp	A	C	7: 128,314,451 (GRCm39)	V255G	possibly damaging	Het
Mcoln1	T	G	8: 3,555,855 (GRCm39)	M50R	probably damaging	Het
Mocos	T	A	18: 24,799,447 (GRCm39)	V227E	probably benign	Het
Mpeg1	A	G	19: 12,439,322 (GRCm39)	E260G	probably benign	Het
Mrc1	A	T	2: 14,312,760 (GRCm39)	N894I	probably damaging	Het
Mroh7	A	G	4: 106,578,460 (GRCm39)	S73P	probably benign	Het
Myo3a	A	T	2: 22,404,737 (GRCm39)	I690L	possibly damaging	Het
Naa50	T	G	16: 43,979,872 (GRCm39)	F87V	probably damaging	Het
Ndufs6	G	T	13: 73,476,471 (GRCm39)	T32K	probably damaging	Het
Nfe2l2	A	G	2: 75,506,912 (GRCm39)	V396A	probably benign	Het
Nptn	A	G	9: 58,551,017 (GRCm39)	E348G	probably damaging	Het
Nsun4	A	T	4: 115,901,935 (GRCm39)	L177Q	probably damaging	Het
Or56b1b	A	G	7: 108,164,046 (GRCm39)	*319Q	probably null	Het
Or8d6	T	C	9: 39,853,658 (GRCm39)	I34T	possibly damaging	Het
Or8k36-ps1	A	G	2: 86,437,462 (GRCm39)	L151P	unknown	Het
Plekha7	A	G	7: 115,763,717 (GRCm39)	V233A	probably benign	Het
Polq	C	A	16: 36,880,739 (GRCm39)	Q968K	possibly damaging	Het
Prmt7	C	T	8: 106,961,516 (GRCm39)	T143M	probably damaging	Het
Ptprc	G	A	1: 138,007,881 (GRCm39)	Q886*	probably null	Het
Rbp7	C	A	4: 149,537,371 (GRCm39)	V36L	possibly damaging	Het
Rev3l	A	T	10: 39,698,698 (GRCm39)	N1065I	probably benign	Het
Scamp5	A	T	9: 57,354,489 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,316,118 (GRCm39)	S1698P	probably damaging	Het
Spr	C	A	6: 85,114,474 (GRCm39)	R85L	probably benign	Het
Sptlc2	A	C	12: 87,402,436 (GRCm39)	N163K	probably benign	Het
Stk10	C	T	11: 32,538,839 (GRCm39)	T226M	probably damaging	Het
Sv2c	A	G	13: 96,123,229 (GRCm39)	Y415H	probably benign	Het
Tet1	A	G	10: 62,715,792 (GRCm39)	M1T	probably null	Het
Tnnt1	T	A	7: 4,512,060 (GRCm39)	K150*	probably null	Het
Trappc10	C	T	10: 78,037,287 (GRCm39)	V839M	probably benign	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Upk2	T	C	9: 44,364,803 (GRCm39)	E132G	probably damaging	Het
Vmn2r117	A	T	17: 23,679,193 (GRCm39)	V677D	probably damaging	Het
Vps13a	A	T	19: 16,702,943 (GRCm39)	L670H	probably damaging	Het
Wwc1	C	T	11: 35,744,264 (GRCm39)	E853K	probably benign	Het
Zfp512	G	A	5: 31,623,984 (GRCm39)	R67H	probably damaging	Het
Zfp804b	T	A	5: 6,819,283 (GRCm39)	H1260L	probably damaging	Het
Zzef1	C	A	11: 72,716,891 (GRCm39)	N360K	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
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
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'- ATCCTGACAGGCCAACAGTG -3'
(R):5'- TGGTTTAGATTCCCGACGC -3'

Sequencing Primer
(F):5'- CCCTCACATAAAAGGGCGGG -3'
(R):5'- TAGATTCCCGACGCCCCTG -3'

Posted On

2018-06-06