Incidental Mutation 'R7503:Runx3'
ID 581611
Institutional Source Beutler Lab
Gene Symbol Runx3
Ensembl Gene ENSMUSG00000070691
Gene Name runt related transcription factor 3
Synonyms AML2, Rx3, Cbfa3
MMRRC Submission 045576-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7503 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 134847963-134905301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134882679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 138 (N138K)
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: N138K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050353
Gene: ENSMUSG00000070691
AA Change: N138K

DomainStartEndE-ValueType
Pfam:Runt 70 199 4.2e-75 PFAM
Pfam:RunxI 328 423 9.1e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119564
AA Change: N124K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113159
Gene: ENSMUSG00000070691
AA Change: N124K

DomainStartEndE-ValueType
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: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik G A 8: 12,329,554 (GRCm39) G3D unknown Het
Aif1 A T 17: 35,390,549 (GRCm39) I67N probably damaging Het
Akap11 T C 14: 78,749,441 (GRCm39) D982G Het
Anpep A G 7: 79,476,385 (GRCm39) L827P probably damaging Het
Arhgef5 A T 6: 43,250,933 (GRCm39) K561N probably benign Het
Arsj T C 3: 126,158,493 (GRCm39) F24S probably benign Het
Bard1 T C 1: 71,069,995 (GRCm39) D661G probably damaging Het
Cc2d2b A G 19: 40,783,056 (GRCm39) I618V unknown Het
Cfap251 G T 5: 123,435,521 (GRCm39) E994* probably null Het
Cfap54 T A 10: 92,723,298 (GRCm39) probably null Het
Cfhr2 T A 1: 139,758,952 (GRCm39) I33F probably damaging Het
Dsc1 G A 18: 20,218,922 (GRCm39) H827Y probably damaging Het
Eif3i C T 4: 129,494,207 (GRCm39) D31N probably damaging Het
Eno1b A T 18: 48,179,878 (GRCm39) T19S probably damaging Het
Eva1a G A 6: 82,048,210 (GRCm39) W29* probably null Het
Evc T C 5: 37,458,111 (GRCm39) K803R unknown Het
F5 T A 1: 164,019,779 (GRCm39) N751K probably damaging Het
Fam120a A T 13: 49,102,723 (GRCm39) N177K probably benign Het
Farp2 T G 1: 93,495,219 (GRCm39) I164R probably benign Het
Gm20379 C T 13: 92,442,565 (GRCm39) P26L Het
Hmgcs2 T C 3: 98,209,940 (GRCm39) S433P probably damaging Het
Inava T C 1: 136,143,675 (GRCm39) D587G possibly damaging Het
Ints2 T C 11: 86,122,881 (GRCm39) T633A probably benign Het
Invs C T 4: 48,396,347 (GRCm39) T340M probably damaging Het
Mef2c A C 13: 83,810,623 (GRCm39) D391A possibly damaging Het
Msh4 A C 3: 153,573,387 (GRCm39) S756A probably damaging Het
Mylk3 T C 8: 86,080,218 (GRCm39) T490A probably benign Het
Myo1b A T 1: 51,815,761 (GRCm39) probably null Het
Nsmce1 A G 7: 125,071,106 (GRCm39) S107P probably benign Het
Or52a24 T A 7: 103,381,474 (GRCm39) S114T probably damaging Het
Or5d43 T C 2: 88,105,039 (GRCm39) Y118C probably damaging Het
Pcdhb21 G A 18: 37,648,028 (GRCm39) D386N probably benign Het
Pcdhb22 T G 18: 37,652,155 (GRCm39) L208V probably benign Het
Pigu C T 2: 155,173,064 (GRCm39) probably null Het
Plcz1 T A 6: 139,936,474 (GRCm39) E585V probably damaging Het
Pnpla7 C A 2: 24,873,544 (GRCm39) C183* probably null Het
Pomgnt1 T C 4: 116,009,949 (GRCm39) V133A possibly damaging Het
Prl3d3 A G 13: 27,345,096 (GRCm39) Y156C probably benign Het
Prpf39 A G 12: 65,100,167 (GRCm39) D280G probably benign Het
Recql5 C A 11: 115,785,881 (GRCm39) A631S probably benign Het
Scaper T C 9: 55,715,038 (GRCm39) D750G probably damaging Het
Slc16a3 T C 11: 120,847,853 (GRCm39) L347P probably damaging Het
Slc25a1 G T 16: 17,744,303 (GRCm39) Y209* probably null Het
Smad2 A G 18: 76,419,956 (GRCm39) S88G probably benign Het
Sorcs1 A G 19: 50,141,490 (GRCm39) C1125R probably benign Het
Spata21 T A 4: 140,822,614 (GRCm39) I140N probably benign Het
Speer3 A T 5: 13,843,348 (GRCm39) D85V probably benign Het
Spopfm1 A T 3: 94,173,780 (GRCm39) M259L probably benign Het
Stra6 A G 9: 58,058,528 (GRCm39) N463S possibly damaging Het
Tmem14a T G 1: 21,299,623 (GRCm39) probably null Het
Tsc1 T A 2: 28,577,088 (GRCm39) L1130Q possibly damaging Het
Ttn T C 2: 76,611,401 (GRCm39) D17377G possibly damaging Het
Utf1 A G 7: 139,524,046 (GRCm39) D87G probably damaging Het
Vmn2r6 G A 3: 64,447,372 (GRCm39) Q565* probably null Het
Vmn2r63 A T 7: 42,583,014 (GRCm39) M67K probably benign Het
Vmn2r90 T C 17: 17,933,510 (GRCm39) Y357H not run Het
Vmn2r97 A G 17: 19,148,470 (GRCm39) T122A probably benign Het
Wdhd1 T C 14: 47,488,248 (GRCm39) E753G probably benign Het
Wdr11 A G 7: 129,204,834 (GRCm39) N213S probably benign Het
Xdh A C 17: 74,233,205 (GRCm39) D207E probably damaging Het
Zfp281 T A 1: 136,554,678 (GRCm39) I552N possibly damaging Het
Zzef1 T A 11: 72,716,893 (GRCm39) I361K probably damaging Het
Other mutations in Runx3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTATTGGGAACGGATCTACACG -3'
(R):5'- ACATAAAAGGGTGGCACTGC -3'

Sequencing Primer
(F):5'- GATCTACACGCGGTTAAGCCTC -3'
(R):5'- CCTACCGGGCCTTGCTGAG -3'
Posted On 2019-10-17