Incidental Mutation 'R7212:Runx3'
ID 561132
Institutional Source Beutler Lab
Gene Symbol Runx3
Ensembl Gene ENSMUSG00000070691
Gene Name runt related transcription factor 3
Synonyms AML2, Rx3, Cbfa3
MMRRC Submission 045340-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7212 (G1)
Quality Score 101.008
Status Validated
Chromosome 4
Chromosomal Location 134847963-134905301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134880090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 3 (I3N)
Ref Sequence ENSEMBL: ENSMUSP00000113159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056977] [ENSMUST00000119564]
AlphaFold Q64131
Predicted Effect probably benign
Transcript: ENSMUST00000056977
SMART Domains Protein: ENSMUSP00000050353
Gene: ENSMUSG00000070691

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: I3N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113159
Gene: ENSMUSG00000070691
AA Change: I3N

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (70/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik C T 6: 83,138,654 (GRCm39) A193V probably benign Het
Aatf C T 11: 84,340,006 (GRCm39) R435Q probably damaging Het
Abca13 A G 11: 9,248,854 (GRCm39) H2867R probably benign Het
Abcd2 C T 15: 91,043,326 (GRCm39) A621T possibly damaging Het
Actl11 T A 9: 107,805,856 (GRCm39) S60T probably damaging Het
Adam28 T A 14: 68,874,846 (GRCm39) N277I probably damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Arhgap27 C T 11: 103,251,581 (GRCm39) R49Q probably damaging Het
Armc10 T C 5: 21,865,581 (GRCm39) S209P probably damaging Het
Atp6v0a1 T C 11: 100,934,783 (GRCm39) F617L probably benign Het
Bap1 T A 14: 30,973,580 (GRCm39) N2K probably damaging Het
Bltp1 C A 3: 37,102,158 (GRCm39) N1363K Het
Cass4 T A 2: 172,269,106 (GRCm39) L396* probably null Het
Ccdc40 A G 11: 119,155,270 (GRCm39) Q1170R probably damaging Het
Cdhr5 C T 7: 140,852,572 (GRCm39) R348H probably damaging Het
Cenpj A G 14: 56,790,109 (GRCm39) S647P probably benign Het
Chordc1 T A 9: 18,206,647 (GRCm39) probably null Het
Chordc1 T C 9: 18,212,308 (GRCm39) S41P probably damaging Het
Ckm T C 7: 19,148,978 (GRCm39) probably null Het
Clca3a1 A C 3: 144,711,727 (GRCm39) I756S probably damaging Het
Clcn1 T C 6: 42,268,323 (GRCm39) V165A possibly damaging Het
Clec4a4 T A 6: 122,968,704 (GRCm39) probably null Het
Cog7 T C 7: 121,576,537 (GRCm39) K130E probably damaging Het
Coq7 A G 7: 118,109,271 (GRCm39) I259T unknown Het
Cp T C 3: 20,029,130 (GRCm39) S536P probably damaging Het
Cyp2d10 T A 15: 82,288,447 (GRCm39) probably null Het
Dcst2 A G 3: 89,273,607 (GRCm39) I162V probably benign Het
Dennd4c A G 4: 86,721,228 (GRCm39) E630G probably damaging Het
Dpt A T 1: 164,624,484 (GRCm39) I62F probably benign Het
Ednrb T A 14: 104,080,444 (GRCm39) I157F probably damaging Het
Ext1 A T 15: 53,208,558 (GRCm39) W68R probably benign Het
Fgf4 A G 7: 144,416,523 (GRCm39) K152E probably benign Het
G530012D18Rik A T 1: 85,504,864 (GRCm39) T90S unknown Het
Galnt17 T C 5: 130,992,949 (GRCm39) T322A possibly damaging Het
Gcm1 A T 9: 77,966,925 (GRCm39) D48V possibly damaging Het
Gdi1 G A X: 73,350,461 (GRCm39) R55H probably benign Het
Gm49358 G T 10: 86,661,071 (GRCm39) R353L probably damaging Het
Golga4 A G 9: 118,365,908 (GRCm39) E320G possibly damaging Het
Herc3 T C 6: 58,895,758 (GRCm39) I1002T probably damaging Het
Hip1r T A 5: 124,111,845 (GRCm39) V7E possibly damaging Het
Hipk1 G A 3: 103,684,926 (GRCm39) Q230* probably null Het
Igsf9b C T 9: 27,242,992 (GRCm39) P726L probably damaging Het
Itgb6 T C 2: 60,464,998 (GRCm39) I345V probably damaging Het
Lhx4 G T 1: 155,600,699 (GRCm39) Q29K probably benign Het
Manba A G 3: 135,273,396 (GRCm39) T777A probably benign Het
Mcm3ap A G 10: 76,337,145 (GRCm39) D1360G probably benign Het
Meltf T A 16: 31,709,632 (GRCm39) probably null Het
Mmp14 T G 14: 54,673,336 (GRCm39) D81E probably damaging Het
Naalad2 T C 9: 18,275,337 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or7a38 A T 10: 78,753,339 (GRCm39) I222L possibly damaging Het
Or8b35 T A 9: 37,904,253 (GRCm39) M150K possibly damaging Het
Pacs2 A G 12: 113,025,312 (GRCm39) D488G possibly damaging Het
Prr5 T G 15: 84,629,993 (GRCm39) L108R probably null Het
Psg23 A G 7: 18,341,064 (GRCm39) S397P probably benign Het
Rfpl4 C A 7: 5,113,659 (GRCm39) R174L probably damaging Het
Scn5a A T 9: 119,372,451 (GRCm39) N214K possibly damaging Het
Slc27a1 T C 8: 72,037,092 (GRCm39) I412T probably damaging Het
Sptbn4 T G 7: 27,116,210 (GRCm39) T530P probably benign Het
Tex15 A T 8: 34,060,854 (GRCm39) R95* probably null Het
Tex15 T C 8: 34,063,023 (GRCm39) S818P probably damaging Het
Tmod1 A T 4: 46,093,951 (GRCm39) K221* probably null Het
Tpm3 G A 3: 89,998,361 (GRCm39) D272N probably benign Het
Trpm6 T C 19: 18,831,155 (GRCm39) V1340A probably benign Het
Ugt2b5 A T 5: 87,273,131 (GRCm39) C512S probably benign Het
Vmn2r82 A T 10: 79,215,268 (GRCm39) E417V probably benign Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Zfp217 A T 2: 169,956,072 (GRCm39) S975R probably benign Het
Zfr C T 15: 12,146,309 (GRCm39) Q287* probably null 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
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
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'- CTTGATTCTCTAGGATCCGGG -3'
(R):5'- GTATGGGCTCCTGCAAATGG -3'

Sequencing Primer
(F):5'- TCTCTAGGATCCGGGCTGGG -3'
(R):5'- TGCACTCACCTTGAAGGC -3'
Posted On 2019-06-26