Incidental Mutation 'R5786:Runx3'
ID 448008
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 # R5786 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 134847963-134905301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134890575 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q64131
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

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: T159I

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

DomainStartEndE-ValueType
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: 40,945,122 (GRCm39) D200E probably damaging Het
4930578I06Rik C A 14: 64,210,691 (GRCm39) R179L probably damaging Het
Abhd5 A G 9: 122,192,868 (GRCm39) probably null Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Apob C T 12: 8,065,304 (GRCm39) T4091I possibly damaging Het
Avil G A 10: 126,852,368 (GRCm39) probably null Het
Cacna1a T C 8: 85,142,350 (GRCm39) probably benign Het
Capn7 T C 14: 31,082,102 (GRCm39) L436P probably damaging Het
Ccdc33 A G 9: 57,937,235 (GRCm39) S655P possibly damaging Het
Ccr6 T C 17: 8,475,244 (GRCm39) S150P probably damaging Het
Cd1d1 T C 3: 86,906,095 (GRCm39) N60S probably benign Het
Ckap5 A G 2: 91,446,641 (GRCm39) probably null Het
Col15a1 A G 4: 47,280,865 (GRCm39) E753G possibly damaging Het
Col1a2 C T 6: 4,530,223 (GRCm39) R699W unknown Het
Cracd T C 5: 77,014,043 (GRCm39) probably null Het
Csf2rb T C 15: 78,233,155 (GRCm39) Y821H probably damaging Het
Cyp3a11 A G 5: 145,799,284 (GRCm39) I301T possibly damaging Het
Dpp3 C T 19: 4,968,350 (GRCm39) G241R possibly damaging Het
Dpyd G T 3: 119,220,886 (GRCm39) M952I probably damaging Het
Dsg3 A T 18: 20,654,628 (GRCm39) I111L possibly damaging Het
Ect2 A G 3: 27,201,102 (GRCm39) F123L probably damaging Het
Ehmt2 G C 17: 35,129,719 (GRCm39) D961H probably damaging Het
Esp1 A G 17: 41,041,809 (GRCm39) I34V probably benign Het
Fam171b G A 2: 83,708,580 (GRCm39) V361I probably benign Het
Flnc T A 6: 29,459,536 (GRCm39) Y2545* probably null Het
Fmo4 C T 1: 162,631,286 (GRCm39) G227D probably benign Het
Grn C T 11: 102,324,869 (GRCm39) Q153* probably null Het
H2-DMb1 T G 17: 34,372,408 (GRCm39) S12R possibly damaging Het
Ica1 G T 6: 8,672,391 (GRCm39) N203K possibly damaging Het
Kdm4c C A 4: 74,277,722 (GRCm39) T792K probably damaging Het
Kif19a T A 11: 114,670,049 (GRCm39) Y81* probably null Het
Kifc2 G T 15: 76,548,578 (GRCm39) C440F probably damaging Het
Lpin2 A G 17: 71,537,268 (GRCm39) T234A probably benign Het
Lysmd2 C A 9: 75,542,885 (GRCm39) P164Q probably benign Het
Maea T A 5: 33,526,027 (GRCm39) D234E probably benign Het
Map4k1 T A 7: 28,699,445 (GRCm39) V572E probably damaging Het
Med6 C T 12: 81,620,733 (GRCm39) G166R probably null Het
Mtmr10 T C 7: 63,987,458 (GRCm39) I666T probably damaging Het
Myh14 T A 7: 44,262,887 (GRCm39) K1777M probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Obscn A G 11: 58,923,517 (GRCm39) S6461P probably damaging Het
Or1j4 T C 2: 36,740,061 (GRCm39) M1T probably null Het
Osbpl7 T A 11: 96,956,658 (GRCm39) V567E probably damaging Het
Rad51ap2 A T 12: 11,506,921 (GRCm39) D281V probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpl24 C A 16: 55,787,516 (GRCm39) H59N possibly damaging Het
Rtl1 G A 12: 109,559,053 (GRCm39) L929F possibly damaging Het
Serpine2 T C 1: 79,794,637 (GRCm39) I99V probably benign Het
Slc12a6 C A 2: 112,115,067 (GRCm39) P12Q probably benign Het
Slc25a18 T C 6: 120,769,035 (GRCm39) L184P probably damaging Het
Smg1 T C 7: 117,812,120 (GRCm39) D57G probably benign Het
Spdye4c T A 2: 128,438,761 (GRCm39) *340K probably null Het
Srsf5 G A 12: 80,996,311 (GRCm39) E162K possibly damaging Het
Ssc5d T C 7: 4,939,817 (GRCm39) V751A probably benign Het
Tcf3 T C 10: 80,255,333 (GRCm39) N157S probably benign Het
Tdrd7 T C 4: 45,989,082 (GRCm39) V71A probably benign Het
Tex14 T C 11: 87,405,121 (GRCm39) C678R probably damaging Het
Tgm3 A T 2: 129,868,704 (GRCm39) K214* probably null Het
Vps53 A G 11: 75,953,833 (GRCm39) I659T probably benign Het
Zfp597 A T 16: 3,684,023 (GRCm39) C244* probably null Het
Zfp933 T A 4: 147,912,864 (GRCm39) 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
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
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'- AAAAGGGCCCTGTGTAGTCG -3'
(R):5'- CTTTGAGTGCTTGGAAGGAGAC -3'

Sequencing Primer
(F):5'- TCCTGTGGCCTTGAATGAC -3'
(R):5'- GACACAGAGCTACAGGTACAGC -3'
Posted On 2016-12-15