Incidental Mutation 'R1353:Runx1'
ID 157121
Institutional Source Beutler Lab
Gene Symbol Runx1
Ensembl Gene ENSMUSG00000022952
Gene Name runt related transcription factor 1
Synonyms AML1, Pebp2a2, runt domain, alpha subunit 2, Cbfa2
MMRRC Submission 039418-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1353 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 92398354-92622962 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 92485939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 32 (R32*)
Ref Sequence ENSEMBL: ENSMUSP00000139819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023673] [ENSMUST00000113956] [ENSMUST00000168195] [ENSMUST00000187242]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023673
AA Change: R132*
SMART Domains Protein: ENSMUSP00000023673
Gene: ENSMUSG00000022952
AA Change: R132*

DomainStartEndE-ValueType
low complexity region 42 55 N/A INTRINSIC
Pfam:Runt 65 194 4.5e-75 PFAM
low complexity region 205 220 N/A INTRINSIC
PDB:1B8X|A 333 374 2e-7 PDB
Pfam:RunxI 375 465 1.5e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113956
AA Change: R118*
SMART Domains Protein: ENSMUSP00000109589
Gene: ENSMUSG00000022952
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
Pfam:Runt 48 182 3.1e-81 PFAM
low complexity region 270 283 N/A INTRINSIC
Pfam:RunxI 294 387 4.9e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000168195
AA Change: R118*
SMART Domains Protein: ENSMUSP00000131079
Gene: ENSMUSG00000022952
AA Change: R118*

DomainStartEndE-ValueType
low complexity region 28 41 N/A INTRINSIC
Pfam:Runt 48 182 4.7e-82 PFAM
low complexity region 191 206 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Pfam:RunxI 358 451 6.4e-43 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000187242
AA Change: R32*
SMART Domains Protein: ENSMUSP00000139819
Gene: ENSMUSG00000022952
AA Change: R32*

DomainStartEndE-ValueType
Pfam:Runt 1 62 2.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189126
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 94.1%
  • 20x: 86.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn2 T C 4: 66,184,572 (GRCm39) Q175R unknown Het
Capn9 A C 8: 125,332,305 (GRCm39) probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Chd7 A G 4: 8,839,556 (GRCm39) N1364S probably damaging Het
Cmya5 A T 13: 93,178,033 (GRCm39) V3607E probably damaging Het
Crb2 T C 2: 37,677,293 (GRCm39) C262R probably damaging Het
Cyp2t4 A G 7: 26,856,055 (GRCm39) N204S probably benign Het
Epha1 T C 6: 42,338,771 (GRCm39) T676A probably damaging Het
Fancm G A 12: 65,134,944 (GRCm39) V246M probably damaging Het
Fcrl5 T C 3: 87,355,669 (GRCm39) S461P probably damaging Het
Gen1 A T 12: 11,293,220 (GRCm39) L394Q probably benign Het
Hsdl2 G T 4: 59,596,971 (GRCm39) probably null Het
Klri2 C T 6: 129,716,049 (GRCm39) G97S probably damaging Het
Lypla2 T C 4: 135,697,778 (GRCm39) I55V probably null Het
Malrd1 A G 2: 16,132,779 (GRCm39) D1900G unknown Het
Map1b A G 13: 99,563,834 (GRCm39) S2378P unknown Het
Marchf3 A T 18: 56,909,177 (GRCm39) probably null Het
Myom2 G T 8: 15,156,424 (GRCm39) W757L probably damaging Het
Nat10 T A 2: 103,584,418 (GRCm39) M120L possibly damaging Het
Ncam2 T G 16: 80,997,803 (GRCm39) M1R probably null Het
Ncoa4 G T 14: 31,892,815 (GRCm39) G33* probably null Het
Or1j1 C A 2: 36,702,926 (GRCm39) M59I possibly damaging Het
Or1x2 G A 11: 50,917,833 (GRCm39) M1I probably null Het
Or2a20 T A 6: 43,194,624 (GRCm39) M259K probably benign Het
Or4p21 T C 2: 88,276,895 (GRCm39) H129R probably benign Het
Or6c38 C T 10: 128,929,733 (GRCm39) V37I probably benign Het
Or8b41 A C 9: 38,055,024 (GRCm39) I198L probably benign Het
Osbpl8 A G 10: 111,112,340 (GRCm39) N485S probably damaging Het
Pkdrej A T 15: 85,703,119 (GRCm39) V939E probably damaging Het
Plaa T C 4: 94,459,926 (GRCm39) E607G possibly damaging Het
Rtel1 T A 2: 180,991,024 (GRCm39) C285S probably benign Het
Rtl1 A C 12: 109,558,633 (GRCm39) C1069G probably benign Het
Rtn4 C A 11: 29,657,595 (GRCm39) A583E probably damaging Het
Sdcbp A G 4: 6,381,057 (GRCm39) I67M probably damaging Het
Slc22a12 G C 19: 6,587,812 (GRCm39) L259V possibly damaging Het
Sptlc2 A G 12: 87,388,520 (GRCm39) S321P probably damaging Het
Tmem30c C T 16: 57,098,028 (GRCm39) G131D probably damaging Het
Tnfaip2 A T 12: 111,411,403 (GRCm39) Q9L probably damaging Het
Ttn T C 2: 76,576,910 (GRCm39) Y24661C probably damaging Het
Vmn2r77 T G 7: 86,451,394 (GRCm39) F427V probably benign Het
Zcchc4 A G 5: 52,964,419 (GRCm39) I292V probably benign Het
Zfp354b A T 11: 50,814,240 (GRCm39) H228Q probably damaging Het
Zfp84 T A 7: 29,475,600 (GRCm39) N97K probably benign Het
Zfp976 T C 7: 42,265,442 (GRCm39) D49G probably damaging Het
Zgrf1 C T 3: 127,405,452 (GRCm39) T1550I probably damaging Het
Other mutations in Runx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Funyon UTSW 16 92,402,544 (GRCm39) makesense probably null
G1Funyon:Runx1 UTSW 16 92,402,544 (GRCm39) makesense probably null
PIT4382001:Runx1 UTSW 16 92,410,648 (GRCm39) missense probably damaging 0.97
R0055:Runx1 UTSW 16 92,441,029 (GRCm39) splice site probably benign
R0315:Runx1 UTSW 16 92,402,655 (GRCm39) missense probably damaging 0.99
R4059:Runx1 UTSW 16 92,441,134 (GRCm39) missense probably benign 0.09
R4771:Runx1 UTSW 16 92,492,629 (GRCm39) missense possibly damaging 0.70
R4977:Runx1 UTSW 16 92,441,235 (GRCm39) critical splice acceptor site probably null
R5631:Runx1 UTSW 16 92,492,451 (GRCm39) missense possibly damaging 0.94
R6257:Runx1 UTSW 16 92,492,799 (GRCm39) unclassified probably benign
R6435:Runx1 UTSW 16 92,441,183 (GRCm39) missense possibly damaging 0.53
R8301:Runx1 UTSW 16 92,402,544 (GRCm39) makesense probably null
R9239:Runx1 UTSW 16 92,402,935 (GRCm39) missense probably damaging 1.00
R9298:Runx1 UTSW 16 92,441,147 (GRCm39) missense possibly damaging 0.71
R9389:Runx1 UTSW 16 92,410,568 (GRCm39) missense possibly damaging 0.95
R9404:Runx1 UTSW 16 92,485,915 (GRCm39) missense probably benign 0.04
Z1088:Runx1 UTSW 16 92,402,680 (GRCm39) missense probably damaging 1.00
Z1176:Runx1 UTSW 16 92,485,989 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TGTGCGTTCCAAGTCCATCACAC -3'
(R):5'- TCAAATGATGACGGACGGCTCTTC -3'

Sequencing Primer
(F):5'- GTTCCAAGTCAGTTGTAAGCC -3'
(R):5'- TGACGGACGGCTCTTCTATAAAC -3'
Posted On 2014-02-11