Mutagenetix > Incidental Mutation

Incidental Mutation 'R9373:Runx3'

709431

Institutional Source

Beutler Lab

Gene Symbol

Runx3

Ensembl Gene

ENSMUSG00000070691

Gene Name

runt related transcription factor 3

Synonyms

AML2, Rx3, Cbfa3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134847963-134905301 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134848456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 14 (T14A)

Ref Sequence

ENSEMBL: ENSMUSP00000050353 (fasta)

Gene Model

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

AlphaFold

Q64131

Predicted Effect

probably benign
Transcript: ENSMUST00000056977
AA Change: T14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050353
Gene: ENSMUSG00000070691
AA Change: T14A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (53/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
2310003L06Rik	A	C	5: 88,120,668 (GRCm39)	D475A	probably benign	Het
Aatk	T	C	11: 119,906,343 (GRCm39)	M243V	possibly damaging	Het
Acox1	A	T	11: 116,065,173 (GRCm39)	N627K	possibly damaging	Het
Adal	A	G	2: 120,980,703 (GRCm39)	Y142C	probably benign	Het
Agfg2	A	G	5: 137,662,476 (GRCm39)		probably null	Het
Ajap1	C	T	4: 153,516,670 (GRCm39)	A224T	probably benign	Het
Alg1	T	C	16: 5,056,990 (GRCm39)	F234L	probably benign	Het
Arhgap27	G	T	11: 103,251,287 (GRCm39)	A147E	possibly damaging	Het
C9orf72	A	G	4: 35,196,985 (GRCm39)	F360S		Het
Cachd1	T	C	4: 100,832,067 (GRCm39)	V743A	possibly damaging	Het
Cc2d2b	G	A	19: 40,784,167 (GRCm39)	V655I	unknown	Het
Cd72	T	C	4: 43,450,141 (GRCm39)	S256G	possibly damaging	Het
Celf2	G	T	2: 6,551,915 (GRCm39)	N521K	probably benign	Het
Clca4a	T	A	3: 144,672,133 (GRCm39)	N270Y	possibly damaging	Het
Clvs2	A	T	10: 33,404,382 (GRCm39)	V278E	probably benign	Het
Cwf19l2	T	C	9: 3,454,718 (GRCm39)	F677S	probably damaging	Het
Dnaaf4	A	G	9: 72,871,462 (GRCm39)	T241A	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epdr1	T	C	13: 19,778,707 (GRCm39)	N130D	possibly damaging	Het
Fam184a	G	A	10: 53,566,115 (GRCm39)	R491W	probably benign	Het
Foxp2	A	G	6: 15,377,969 (GRCm39)	Q160R	unknown	Het
Fstl5	T	A	3: 76,555,669 (GRCm39)	Y515*	probably null	Het
Garin5b	T	C	7: 4,760,712 (GRCm39)	M667V		Het
Helz2	G	T	2: 180,882,741 (GRCm39)	N17K	probably benign	Het
Irag1	A	G	7: 110,545,038 (GRCm39)		probably null	Het
Jmjd1c	C	T	10: 66,932,495 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrrn1	A	C	6: 107,545,465 (GRCm39)	Q421P	possibly damaging	Het
Mapk1	A	G	16: 16,836,154 (GRCm39)	I101V	probably benign	Het
Me2	T	C	18: 73,918,800 (GRCm39)	E427G	probably damaging	Het
Mrc1	G	A	2: 14,274,999 (GRCm39)	M433I	probably damaging	Het
Nelfb	G	A	2: 25,095,218 (GRCm39)	R324W	probably damaging	Het
Nlrp4b	T	A	7: 10,449,126 (GRCm39)	I443K	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or5b118	A	G	19: 13,449,216 (GRCm39)	E294G	probably damaging	Het
Or8b50	G	A	9: 38,518,142 (GRCm39)	C127Y	possibly damaging	Het
Or8b9	T	A	9: 37,766,750 (GRCm39)	V212D	probably damaging	Het
Or9g3	A	T	2: 85,590,275 (GRCm39)	Y148*	probably null	Het
Parvb	C	T	15: 84,188,100 (GRCm39)	T281I	probably damaging	Het
Prune2	A	G	19: 17,099,502 (GRCm39)	T1669A	probably benign	Het
Scn9a	A	G	2: 66,314,261 (GRCm39)	V1819A	probably benign	Het
Senp1	T	C	15: 97,964,435 (GRCm39)	T260A	probably benign	Het
Serpinb10	A	G	1: 107,474,749 (GRCm39)	R304G	possibly damaging	Het
Spem1	C	T	11: 69,712,640 (GRCm39)	C65Y	probably benign	Het
Tdrd6	A	G	17: 43,939,053 (GRCm39)	V665A	possibly damaging	Het
Tenm2	C	T	11: 35,930,713 (GRCm39)	A1772T	probably damaging	Het
Tenm3	C	T	8: 48,752,690 (GRCm39)	V891I	probably damaging	Het
Trank1	A	G	9: 111,194,259 (GRCm39)	D761G	probably benign	Het
Tut7	T	C	13: 59,944,681 (GRCm39)	S1053G	probably damaging	Het
Ubap2l	A	T	3: 89,915,587 (GRCm39)	Y985N	unknown	Het
Vwc2l	A	T	1: 70,768,218 (GRCm39)	H94L	probably damaging	Het
Wdr27	G	A	17: 15,154,795 (GRCm39)	H41Y	probably benign	Het
Zfp7	AGTGCGGGAAAGGTTTCCACCTG	AG	15: 76,774,798 (GRCm39)		probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	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
R8959:Runx3	UTSW	4	134,902,968 (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
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'- GGGACTGGGAAGCCAAATTC -3'
(R):5'- GCTGAGAATCAAAGTCACACCG -3'

Sequencing Primer
(F):5'- CAAACCGAAACTTTCTTTCCTTGGAG -3'
(R):5'- GCTCATACCAGGAGACCACGG -3'

Posted On

2022-04-18