Mutagenetix > Incidental Mutation

Incidental Mutation 'R8959:Runx3'

682207

Institutional Source

Beutler Lab

Gene Symbol

Runx3

Ensembl Gene

ENSMUSG00000070691

Gene Name

runt related transcription factor 3

Synonyms

AML2, Rx3, Cbfa3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134847963-134905301 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134902968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 366 (S366L)

Ref Sequence

ENSEMBL: ENSMUSP00000050353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056977] [ENSMUST00000119564]

AlphaFold

Q64131

Predicted Effect

probably damaging
Transcript: ENSMUST00000056977
AA Change: S366L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050353
Gene: ENSMUSG00000070691
AA Change: S366L

Domain	Start	End	E-Value	Type
Pfam:Runt	70	199	4.2e-75	PFAM
Pfam:RunxI	328	423	9.1e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119564
AA Change: S352L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113159
Gene: ENSMUSG00000070691
AA Change: S352L

Domain	Start	End	E-Value	Type
Pfam:Runt	53	187	1.3e-81	PFAM
Pfam:RunxI	311	409	1.2e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (48/48)

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 runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Nullizygous mutations can lead to variable phenotypes, including postnatal lethality, ataxia, skeletal and behavioral defects, altered differentiation and function of T cells and dendritic cells, gastric hyperplasia, intestinal and lung inflammation, hair shape changes, and absent Langerhans cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	G	T	7: 43,906,399 (GRCm39)	T51K	possibly damaging	Het
Angel2	C	T	1: 190,665,332 (GRCm39)	R88C	probably damaging	Het
Ankrd13b	G	A	11: 77,367,452 (GRCm39)	R181C	probably damaging	Het
Bmal2	T	C	6: 146,722,142 (GRCm39)	C238R	probably benign	Het
Brd3	C	T	2: 27,354,013 (GRCm39)	R33Q	probably damaging	Het
Ccdc106	T	A	7: 5,060,500 (GRCm39)	L20Q	probably benign	Het
Ccdc117	A	T	11: 5,491,421 (GRCm39)	V62D	possibly damaging	Het
Ccnt1	T	C	15: 98,441,096 (GRCm39)		probably benign	Het
Cfap95	T	C	19: 23,536,385 (GRCm39)	E174G	possibly damaging	Het
Cmip	G	A	8: 118,138,054 (GRCm39)	V178I	probably benign	Het
Cnnm3	A	G	1: 36,558,096 (GRCm39)	E436G	probably damaging	Het
Dcaf11	A	G	14: 55,806,761 (GRCm39)	N488S	probably benign	Het
Dlg2	A	T	7: 90,501,927 (GRCm39)	K80*	probably null	Het
Dnase1l2	T	A	17: 24,661,642 (GRCm39)	D39V	probably damaging	Het
Dysf	A	G	6: 84,078,945 (GRCm39)	D708G	probably benign	Het
Enpep	A	T	3: 129,113,090 (GRCm39)	L278Q	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Flt3	T	G	5: 147,303,774 (GRCm39)	Q388P	possibly damaging	Het
Hltf	A	G	3: 20,136,936 (GRCm39)	Y329C	probably damaging	Het
Hmcn2	C	T	2: 31,282,159 (GRCm39)	P1924S	probably damaging	Het
Iba57	A	G	11: 59,052,461 (GRCm39)	V122A	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Irak2	T	A	6: 113,624,702 (GRCm39)	M66K	probably damaging	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Mpped1	G	A	15: 83,676,342 (GRCm39)	R36Q	probably damaging	Het
Myh1	C	A	11: 67,102,328 (GRCm39)	A873E	probably benign	Het
Nedd9	G	T	13: 41,469,758 (GRCm39)	A465D	probably damaging	Het
Nr2f1	G	T	13: 78,337,873 (GRCm39)	Y257*	probably null	Het
Omd	A	G	13: 49,745,790 (GRCm39)	E400G	possibly damaging	Het
Or5j1	T	A	2: 86,879,551 (GRCm39)	T10S	possibly damaging	Het
Or6c202	A	G	10: 128,996,484 (GRCm39)	I123T	probably damaging	Het
Patj	T	C	4: 98,480,212 (GRCm39)	S1306P	probably damaging	Het
Pdzph1	T	C	17: 59,281,599 (GRCm39)	K228E	probably damaging	Het
Prl2c5	A	G	13: 13,365,392 (GRCm39)		probably benign	Het
Rad18	T	C	6: 112,605,444 (GRCm39)	E410G	probably damaging	Het
Rp1	T	A	1: 4,419,650 (GRCm39)		probably benign	Het
Ssh3	T	A	19: 4,318,590 (GRCm39)	R30S	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taf6l	A	G	19: 8,750,690 (GRCm39)	F128S	possibly damaging	Het
Tmc6	A	C	11: 117,661,293 (GRCm39)		probably null	Het
Trpc3	T	G	3: 36,709,258 (GRCm39)	Q406P	probably benign	Het
Uncx	C	A	5: 139,529,826 (GRCm39)	Y26*	probably null	Het
Urb1	T	C	16: 90,571,005 (GRCm39)	D1268G	probably benign	Het
Wif1	T	C	10: 120,931,957 (GRCm39)	C294R	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zfp78	A	G	7: 6,382,380 (GRCm39)	R477G	probably damaging	Het

Other mutations in Runx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02455:Runx3	APN	4	134,902,841 (GRCm39)	missense	probably damaging	1.00
Lear	UTSW	4	134,882,720 (GRCm39)	missense	probably damaging	1.00
R2111:Runx3	UTSW	4	134,882,627 (GRCm39)	missense	probably damaging	1.00
R4975:Runx3	UTSW	4	134,898,446 (GRCm39)	missense	probably benign	0.00
R5164:Runx3	UTSW	4	134,848,441 (GRCm39)	missense	possibly damaging	0.93
R5786:Runx3	UTSW	4	134,890,575 (GRCm39)	missense	probably damaging	1.00
R7193:Runx3	UTSW	4	134,848,456 (GRCm39)	missense	probably benign
R7212:Runx3	UTSW	4	134,880,090 (GRCm39)	missense	probably damaging	0.99
R7503:Runx3	UTSW	4	134,882,679 (GRCm39)	missense	probably damaging	1.00
R8547:Runx3	UTSW	4	134,898,455 (GRCm39)	missense	probably damaging	0.99
R8780:Runx3	UTSW	4	134,882,720 (GRCm39)	missense	probably damaging	1.00
R9055:Runx3	UTSW	4	134,902,656 (GRCm39)	missense	probably damaging	1.00
R9108:Runx3	UTSW	4	134,882,692 (GRCm39)	missense	probably damaging	0.98
R9337:Runx3	UTSW	4	134,890,574 (GRCm39)	missense	probably damaging	1.00
R9373:Runx3	UTSW	4	134,848,456 (GRCm39)	missense	probably benign
R9472:Runx3	UTSW	4	134,898,441 (GRCm39)	missense	probably damaging	0.99
R9642:Runx3	UTSW	4	134,848,341 (GRCm39)	start gained	probably benign
Z1177:Runx3	UTSW	4	134,880,197 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TAGGCTCCTCAGACCTGAAC -3'
(R):5'- AGAGTCTCCAGGGTGCTTAGTAG -3'

Sequencing Primer
(F):5'- CTGCAGAGCCTCACAGAGAG -3'
(R):5'- TTAGTAGGGCCGCCACAC -3'

Posted On

2021-08-31