Incidental Mutation 'IGL02455:Runx3'
ID 293805
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02455
Quality Score
Status
Chromosome 4
Chromosomal Location 134847963-134905301 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134902841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 310 (Y310N)
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: Y324N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050353
Gene: ENSMUSG00000070691
AA Change: Y324N

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: Y310N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113159
Gene: ENSMUSG00000070691
AA Change: Y310N

DomainStartEndE-ValueType
Pfam:Runt 53 187 1.3e-81 PFAM
Pfam:RunxI 311 409 1.2e-43 PFAM
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 36,271,021 (GRCm39) V479A probably damaging Het
Adam18 T C 8: 25,141,864 (GRCm39) D235G probably damaging Het
Cdh22 T C 2: 164,984,175 (GRCm39) N359S possibly damaging Het
Cebpz G T 17: 79,242,465 (GRCm39) N396K probably benign Het
Celsr3 T A 9: 108,720,092 (GRCm39) W2493R probably benign Het
Clca3a2 C T 3: 144,787,172 (GRCm39) V500M probably benign Het
Clec4a4 A C 6: 122,990,739 (GRCm39) N160H possibly damaging Het
Crb2 T C 2: 37,684,576 (GRCm39) S1139P possibly damaging Het
Dnah8 T C 17: 30,891,308 (GRCm39) I771T probably damaging Het
Etfbkmt C T 6: 149,048,724 (GRCm39) A121V probably damaging Het
Fat4 T A 3: 39,005,280 (GRCm39) L1893Q possibly damaging Het
Fbxw13 A T 9: 109,012,255 (GRCm39) S188T probably benign Het
Fign T C 2: 63,810,841 (GRCm39) D143G probably benign Het
Foxj3 C A 4: 119,477,434 (GRCm39) H381N unknown Het
Gpr158 A T 2: 21,373,511 (GRCm39) T149S probably benign Het
Ift74 C T 4: 94,524,068 (GRCm39) Q195* probably null Het
Kif2c C A 4: 117,029,551 (GRCm39) M143I probably benign Het
Kmt2b A G 7: 30,278,303 (GRCm39) probably null Het
Krt84 C T 15: 101,434,170 (GRCm39) R599H unknown Het
Ly6g6f C T 17: 35,301,866 (GRCm39) R196H possibly damaging Het
Map4 C A 9: 109,828,901 (GRCm39) N95K probably benign Het
Mrgprx3-ps T A 7: 46,959,263 (GRCm39) noncoding transcript Het
Mroh9 T C 1: 162,903,149 (GRCm39) M85V probably benign Het
Npffr2 T C 5: 89,715,994 (GRCm39) I107T probably damaging Het
Nrcam T C 12: 44,617,313 (GRCm39) V737A probably damaging Het
Oprm1 A G 10: 6,780,219 (GRCm39) T294A probably damaging Het
Or10d5j T C 9: 39,868,198 (GRCm39) E11G probably damaging Het
Or5w17 A T 2: 87,583,927 (GRCm39) S137T possibly damaging Het
Or7g32 C T 9: 19,408,559 (GRCm39) Q172* probably null Het
Parvg A G 15: 84,214,283 (GRCm39) R156G possibly damaging Het
Pclo T C 5: 14,590,189 (GRCm39) S830P unknown Het
Pde11a T C 2: 75,988,737 (GRCm39) D468G possibly damaging Het
Peak1 A T 9: 56,134,757 (GRCm39) S195T possibly damaging Het
Pkhd1 A G 1: 20,434,425 (GRCm39) Y2338H probably damaging Het
Ppp1r1b A T 11: 98,241,395 (GRCm39) I28F probably damaging Het
Prpf8 A G 11: 75,400,084 (GRCm39) Y2326C probably benign Het
Psmd1 T A 1: 86,006,302 (GRCm39) L223I probably damaging Het
Secisbp2l C T 2: 125,615,398 (GRCm39) D76N possibly damaging Het
Slfn4 A T 11: 83,077,584 (GRCm39) N124I probably damaging Het
Spata13 G A 14: 60,944,163 (GRCm39) V519I probably benign Het
Ssh3 C T 19: 4,314,460 (GRCm39) E365K probably damaging Het
Strc A G 2: 121,206,272 (GRCm39) probably benign Het
Tdp2 T A 13: 25,025,245 (GRCm39) I338N probably damaging Het
Vmn1r13 A T 6: 57,187,457 (GRCm39) R205S probably damaging Het
Wdr19 G T 5: 65,382,102 (GRCm39) A441S probably benign Het
Ylpm1 A G 12: 85,077,037 (GRCm39) D796G probably damaging Het
Zbtb11 T C 16: 55,821,038 (GRCm39) S712P probably damaging Het
Zcchc14 A G 8: 122,333,009 (GRCm39) probably benign Het
Zfp608 T G 18: 55,032,405 (GRCm39) S512R probably damaging Het
Other mutations in Runx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16