Mutagenetix > Incidental Mutation

Incidental Mutation 'R2008:Cbfa2t3'

219258

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

040017-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123351880-123425848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123370032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 147 (V147A)

Ref Sequence

ENSEMBL: ENSMUSP00000117630 (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: V121A

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006525
Gene: ENSMUSG00000006362
AA Change: V121A

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: V147A

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065728
Gene: ENSMUSG00000006362
AA Change: V147A

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: V182A

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118997
Gene: ENSMUSG00000006362
AA Change: V182A

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 damaging
Transcript: ENSMUST00000134045
AA Change: V147A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117630
Gene: ENSMUSG00000006362
AA Change: V147A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147374

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,026,034 (GRCm39)	C185S	probably benign	Het
Acsbg3	A	G	17: 57,193,478 (GRCm39)	N608S	probably benign	Het
Actl6b	T	A	5: 137,567,592 (GRCm39)	S409T	probably damaging	Het
Adam34l	A	T	8: 44,080,074 (GRCm39)	V50D	probably benign	Het
Adgrf2	T	C	17: 43,021,013 (GRCm39)	T604A	probably damaging	Het
Adprs	T	A	4: 126,211,137 (GRCm39)	D260V	probably benign	Het
Akap9	A	G	5: 4,010,131 (GRCm39)	E296G	possibly damaging	Het
Alg5	A	G	3: 54,653,894 (GRCm39)	Y210C	possibly damaging	Het
Aoc1	T	C	6: 48,882,831 (GRCm39)	W236R	probably damaging	Het
Atp11b	A	G	3: 35,909,271 (GRCm39)	D1155G	probably damaging	Het
Atp2c1	T	A	9: 105,309,925 (GRCm39)	T551S	probably benign	Het
Atp7b	A	T	8: 22,517,996 (GRCm39)	C281S	probably damaging	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Cabin1	T	C	10: 75,570,810 (GRCm39)		probably null	Het
Capn9	T	G	8: 125,318,424 (GRCm39)	C97G	probably damaging	Het
Ccdc83	T	A	7: 89,893,349 (GRCm39)	Y136F	probably damaging	Het
Cdh6	C	A	15: 13,051,562 (GRCm39)	R357L	possibly damaging	Het
Celf1	A	T	2: 90,840,753 (GRCm39)	N367I	probably damaging	Het
Cep350	T	C	1: 155,790,467 (GRCm39)	I1363V	probably benign	Het
Cfap299	C	T	5: 98,885,561 (GRCm39)	T156I	possibly damaging	Het
Colec12	T	A	18: 9,874,813 (GRCm39)	D696E	probably benign	Het
Ctbp1	C	T	5: 33,408,330 (GRCm39)	E138K	probably damaging	Het
Cyp4a10	T	C	4: 115,382,589 (GRCm39)	I293T	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dctn1	C	T	6: 83,166,938 (GRCm39)	T263I	probably damaging	Het
Ddx49	A	T	8: 70,748,094 (GRCm39)	V317E	probably damaging	Het
Edil3	G	A	13: 89,093,072 (GRCm39)		probably null	Het
Egflam	A	T	15: 7,267,285 (GRCm39)	V700E	possibly damaging	Het
Fam168b	A	G	1: 34,858,946 (GRCm39)		probably null	Het
Gigyf2	T	G	1: 87,301,835 (GRCm39)		probably null	Het
H1f2	C	G	13: 23,923,392 (GRCm39)	S187R	probably benign	Het
Heatr4	A	G	12: 84,026,514 (GRCm39)	S248P	probably benign	Het
Hoxd1	A	T	2: 74,594,524 (GRCm39)	I260F	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,408 (GRCm39)	L305Q	probably damaging	Het
Itch	T	A	2: 155,052,379 (GRCm39)	C660S	possibly damaging	Het
Ivd	A	T	2: 118,701,981 (GRCm39)	I138F	probably benign	Het
Katnip	C	G	7: 125,459,738 (GRCm39)	H1189D	probably damaging	Het
Lcn4	G	T	2: 26,561,228 (GRCm39)	Q18K	possibly damaging	Het
Mapkbp1	T	C	2: 119,843,146 (GRCm39)	Y192H	probably damaging	Het
Mn1	T	C	5: 111,566,723 (GRCm39)	L231P	probably damaging	Het
Morc1	A	G	16: 48,386,009 (GRCm39)	D544G	probably benign	Het
Mthfd1	C	A	12: 76,344,293 (GRCm39)	T331K	probably damaging	Het
Myo18b	T	A	5: 113,021,423 (GRCm39)	Y546F	probably benign	Het
Nod1	T	C	6: 54,916,310 (GRCm39)	Y129C	probably damaging	Het
Nprl3	A	G	11: 32,182,973 (GRCm39)	V563A	probably damaging	Het
Or13a18	T	C	7: 140,190,498 (GRCm39)	Y140H	probably damaging	Het
Or4a80	A	T	2: 89,582,417 (GRCm39)	C252S	possibly damaging	Het
Or5g29	A	G	2: 85,421,766 (GRCm39)	N294S	probably damaging	Het
Or5p72	T	C	7: 108,022,389 (GRCm39)	F204L	probably benign	Het
Or8b1b	T	C	9: 38,375,537 (GRCm39)	S67P	probably damaging	Het
Orc3	T	A	4: 34,611,049 (GRCm39)		probably null	Het
Otog	T	C	7: 45,913,498 (GRCm39)	V777A	probably benign	Het
Pbxip1	G	T	3: 89,356,020 (GRCm39)	V711L	probably benign	Het
Pcdhb16	A	G	18: 37,611,316 (GRCm39)	D92G	probably damaging	Het
Phkb	T	A	8: 86,783,096 (GRCm39)	M964K	probably damaging	Het
Pitpnm2	T	A	5: 124,290,684 (GRCm39)	M1L	probably damaging	Het
Pkhd1	A	G	1: 20,269,683 (GRCm39)	V3287A	probably damaging	Het
Polq	T	A	16: 36,882,844 (GRCm39)	H1669Q	probably damaging	Het
Ppp4r4	T	C	12: 103,552,016 (GRCm39)	S195P	probably damaging	Het
Prdm2	T	C	4: 142,861,517 (GRCm39)	Y591C	probably damaging	Het
Rgsl1	T	A	1: 153,701,651 (GRCm39)	T268S	possibly damaging	Het
Scd2	A	T	19: 44,291,610 (GRCm39)	T350S	probably benign	Het
Scn7a	T	A	2: 66,518,091 (GRCm39)	Q1040L	possibly damaging	Het
Sdhb	T	A	4: 140,706,340 (GRCm39)	L259Q	probably damaging	Het
Senp6	A	G	9: 80,033,680 (GRCm39)	H701R	probably damaging	Het
Slc41a2	C	T	10: 83,140,167 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,797,785 (GRCm39)	D1533G	probably damaging	Het
Spef2	T	C	15: 9,713,271 (GRCm39)	K367R	possibly damaging	Het
Sstr3	G	A	15: 78,424,711 (GRCm39)	T12M	probably benign	Het
Synj2	G	T	17: 6,047,221 (GRCm39)	E20D	probably damaging	Het
Tchh	G	T	3: 93,353,281 (GRCm39)	R907L	unknown	Het
Thsd1	A	G	8: 22,749,247 (GRCm39)	E645G	probably benign	Het
Tmem176b	A	T	6: 48,812,383 (GRCm39)	M194K	probably damaging	Het
Tmprss11f	T	C	5: 86,739,265 (GRCm39)		probably null	Het
Trim44	G	A	2: 102,230,722 (GRCm39)		probably benign	Het
Triml1	T	A	8: 43,583,642 (GRCm39)	R320W	probably damaging	Het
Trmt6	A	T	2: 132,648,829 (GRCm39)	C401*	probably null	Het
Trpv5	T	C	6: 41,636,662 (GRCm39)		probably null	Het
V1rd19	T	A	7: 23,702,726 (GRCm39)	L64*	probably null	Het
Vmn1r216	A	T	13: 23,283,661 (GRCm39)	R115W	probably damaging	Het
Vmn2r58	T	C	7: 41,509,924 (GRCm39)	N551S	probably damaging	Het
Vmn2r77	T	C	7: 86,450,921 (GRCm39)	V269A	probably benign	Het
Vps13d	A	T	4: 144,881,813 (GRCm39)	V1254D	probably benign	Het
Xpr1	T	C	1: 155,156,775 (GRCm39)		probably null	Het
Zan	T	A	5: 137,450,712 (GRCm39)	T1622S	unknown	Het
Zfp112	T	C	7: 23,826,176 (GRCm39)	Y715H	probably damaging	Het
Zfp750	G	A	11: 121,403,951 (GRCm39)	P308L	possibly 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
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'- TCCCATGCATTACTGACCCAG -3'
(R):5'- CTACACCCAATGGCTTCAGC -3'

Sequencing Primer
(F):5'- TGCATTACTGACCCAGATGCC -3'
(R):5'- AATGGCTTCAGCAACGGC -3'

Posted On

2014-08-25