Incidental Mutation 'R5786:Runx3'
Institutional Source Beutler Lab
Gene Symbol Runx3
Ensembl Gene ENSMUSG00000070691
Gene Namerunt related transcription factor 3
SynonymsCbfa3, AML2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5786 (G1)
Quality Score225
Status Not validated
Chromosomal Location135120652-135177990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135163264 bp
Amino Acid Change Threonine to Isoleucine at position 159 (T159I)
Ref Sequence ENSEMBL: ENSMUSP00000113159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056977] [ENSMUST00000119564]
Predicted Effect probably damaging
Transcript: ENSMUST00000056977
AA Change: T173I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050353
Gene: ENSMUSG00000070691
AA Change: T173I

Pfam:Runt 70 199 4.2e-75 PFAM
Pfam:RunxI 328 423 9.1e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119564
AA Change: T159I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113159
Gene: ENSMUSG00000070691
AA Change: T159I

Pfam:Runt 53 187 1.3e-81 PFAM
Pfam:RunxI 311 409 1.2e-43 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
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 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
1810009J06Rik T A 6: 40,968,188 D200E probably damaging Het
4930578I06Rik C A 14: 63,973,242 R179L probably damaging Het
Abhd5 A G 9: 122,363,803 probably null Het
Ankrd60 TGGCCACGCGG TGG 2: 173,578,089 probably null Het
Ano5 G A 7: 51,566,318 D348N possibly damaging Het
Apob C T 12: 8,015,304 T4091I possibly damaging Het
Avil G A 10: 127,016,499 probably null Het
C530008M17Rik T C 5: 76,866,196 probably null Het
Cacna1a T C 8: 84,415,721 probably benign Het
Capn7 T C 14: 31,360,145 L436P probably damaging Het
Ccdc33 A G 9: 58,029,952 S655P possibly damaging Het
Ccr6 T C 17: 8,256,412 S150P probably damaging Het
Cd1d1 T C 3: 86,998,788 N60S probably benign Het
Ckap5 A G 2: 91,616,296 probably null Het
Col15a1 A G 4: 47,280,865 E753G possibly damaging Het
Col1a2 C T 6: 4,530,223 R699W unknown Het
Csf2rb T C 15: 78,348,955 Y821H probably damaging Het
Cyp3a11 A G 5: 145,862,474 I301T possibly damaging Het
Dpp3 C T 19: 4,918,322 G241R possibly damaging Het
Dpyd G T 3: 119,427,237 M952I probably damaging Het
Dsg3 A T 18: 20,521,571 I111L possibly damaging Het
Ect2 A G 3: 27,146,953 F123L probably damaging Het
Ehmt2 G C 17: 34,910,743 D961H probably damaging Het
Esp1 A G 17: 40,730,918 I34V probably benign Het
Fam171b G A 2: 83,878,236 V361I probably benign Het
Flnc T A 6: 29,459,537 Y2545* probably null Het
Fmo4 C T 1: 162,803,717 G227D probably benign Het
Grn C T 11: 102,434,043 Q153* probably null Het
H2-DMb1 T G 17: 34,153,434 S12R possibly damaging Het
Ica1 G T 6: 8,672,391 N203K possibly damaging Het
Kdm4c C A 4: 74,359,485 T792K probably damaging Het
Kif19a T A 11: 114,779,223 Y81* probably null Het
Kifc2 G T 15: 76,664,378 C440F probably damaging Het
Lpin2 A G 17: 71,230,273 T234A probably benign Het
Lysmd2 C A 9: 75,635,603 P164Q probably benign Het
Maea T A 5: 33,368,683 D234E probably benign Het
Map4k1 T A 7: 29,000,020 V572E probably damaging Het
Med6 C T 12: 81,573,959 G166R probably null Het
Mtmr10 T C 7: 64,337,710 I666T probably damaging Het
Myh14 T A 7: 44,613,463 K1777M probably benign Het
Naip6 G T 13: 100,300,216 Q600K probably benign Het
Obscn A G 11: 59,032,691 S6461P probably damaging Het
Olfr350 T C 2: 36,850,049 M1T probably null Het
Osbpl7 T A 11: 97,065,832 V567E probably damaging Het
Rad51ap2 A T 12: 11,456,920 D281V probably damaging Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rpl24 C A 16: 55,967,153 H59N possibly damaging Het
Rtl1 G A 12: 109,592,619 L929F possibly damaging Het
Serpine2 T C 1: 79,816,920 I99V probably benign Het
Slc12a6 C A 2: 112,284,722 P12Q probably benign Het
Slc25a18 T C 6: 120,792,074 L184P probably damaging Het
Smg1 T C 7: 118,212,897 D57G probably benign Het
Spdye4c T A 2: 128,596,841 *340K probably null Het
Srsf5 G A 12: 80,949,537 E162K possibly damaging Het
Ssc5d T C 7: 4,936,818 V751A probably benign Het
Tcf3 T C 10: 80,419,499 N157S probably benign Het
Tdrd7 T C 4: 45,989,082 V71A probably benign Het
Tex14 T C 11: 87,514,295 C678R probably damaging Het
Tgm3 A T 2: 130,026,784 K214* probably null Het
Vps53 A G 11: 76,063,007 I659T probably benign Het
Zfp597 A T 16: 3,866,159 C244* probably null Het
Zfp933 T A 4: 147,828,407 probably null Het
Other mutations in Runx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02455:Runx3 APN 4 135175530 missense probably damaging 1.00
Lear UTSW 4 135155409 missense probably damaging 1.00
R2111:Runx3 UTSW 4 135155316 missense probably damaging 1.00
R4975:Runx3 UTSW 4 135171135 missense probably benign 0.00
R5164:Runx3 UTSW 4 135121130 missense possibly damaging 0.93
R7193:Runx3 UTSW 4 135121145 missense probably benign
R7212:Runx3 UTSW 4 135152779 missense probably damaging 0.99
R7503:Runx3 UTSW 4 135155368 missense probably damaging 1.00
R8547:Runx3 UTSW 4 135171144 missense probably damaging 0.99
R8780:Runx3 UTSW 4 135155409 missense probably damaging 1.00
R8959:Runx3 UTSW 4 135175657 missense probably damaging 1.00
R9055:Runx3 UTSW 4 135175345 missense probably damaging 1.00
Z1177:Runx3 UTSW 4 135152886 missense probably benign 0.35
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-12-15