Incidental Mutation 'IGL02591:Spi1'
ID 299739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spi1
Ensembl Gene ENSMUSG00000002111
Gene Name spleen focus forming virus (SFFV) proviral integration oncogene
Synonyms Dis-1, Sfpi-1, Tcfpu1, Sfpi1, Spi-1, PU.1, Tfpu.1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02591
Quality Score
Status
Chromosome 2
Chromosomal Location 90912750-90946104 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 90927295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000002180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002180] [ENSMUST00000132741] [ENSMUST00000169852]
AlphaFold P17433
PDB Structure PU.1 ETS DOMAIN-DNA COMPLEX [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000002180
AA Change: M1K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 56 73 N/A INTRINSIC
low complexity region 78 85 N/A INTRINSIC
low complexity region 154 167 N/A INTRINSIC
ETS 171 259 9.71e-43 SMART
Predicted Effect probably null
Transcript: ENSMUST00000132741
AA Change: M1K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000169852
SMART Domains Protein: ENSMUSP00000130368
Gene: ENSMUSG00000002111

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
low complexity region 123 133 N/A INTRINSIC
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 an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice may exhibit fetal or perinatal lethality, absence of myeloid and B cells, and altered T cell and NK cell development. Mice carrying hypomorphic alleles display impaired B-cell and myeloid development, develop T cell derived lymphomas andacute myeloid leukemia, and die prematurely. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,485,249 (GRCm39) F448I probably benign Het
Afg3l1 T C 8: 124,212,748 (GRCm39) F170L probably damaging Het
Aox1 A T 1: 58,398,158 (GRCm39) R1300* probably null Het
Cadps G A 14: 12,473,465 (GRCm38) R899C probably damaging Het
Ckap4 T C 10: 84,364,454 (GRCm39) D203G probably damaging Het
Dsg1c A G 18: 20,408,249 (GRCm39) N433D probably damaging Het
Eapp T C 12: 54,739,607 (GRCm39) N70S probably damaging Het
Eno3 A T 11: 70,552,853 (GRCm39) D378V probably damaging Het
Ep400 T A 5: 110,881,638 (GRCm39) probably benign Het
F13a1 T A 13: 37,082,031 (GRCm39) I558F probably damaging Het
Fermt1 A T 2: 132,776,786 (GRCm39) M234K possibly damaging Het
Fgfr1op2 A G 6: 146,490,344 (GRCm39) Q81R probably damaging Het
Gpm6a C T 8: 55,511,954 (GRCm39) A276V probably damaging Het
Hecw1 C A 13: 14,531,821 (GRCm39) probably benign Het
Ikbip G T 10: 90,932,154 (GRCm39) C266F probably damaging Het
Lpar2 C T 8: 70,276,700 (GRCm39) A163V probably benign Het
Med17 T A 9: 15,181,657 (GRCm39) H31L probably damaging Het
Or5g25 C A 2: 85,478,487 (GRCm39) M59I probably damaging Het
Otoa T C 7: 120,755,053 (GRCm39) F992L probably damaging Het
Ptprd T C 4: 75,900,287 (GRCm39) H864R probably damaging Het
Samd9l A C 6: 3,375,760 (GRCm39) C500W possibly damaging Het
Sarm1 A T 11: 78,378,178 (GRCm39) Y501N probably damaging Het
Selp A T 1: 163,957,702 (GRCm39) H277L probably damaging Het
Slc39a8 T G 3: 135,590,381 (GRCm39) L358R probably damaging Het
Thsd1 A G 8: 22,748,743 (GRCm39) E477G probably damaging Het
Tlr1 C T 5: 65,084,059 (GRCm39) V173M probably damaging Het
Tmco2 C T 4: 120,962,987 (GRCm39) D171N probably damaging Het
Ugt2b1 A G 5: 87,065,563 (GRCm39) L492P probably damaging Het
Vmn2r70 A T 7: 85,214,153 (GRCm39) I333K probably damaging Het
Zfp598 C A 17: 24,896,478 (GRCm39) P185Q probably damaging Het
Zfp711 T A X: 111,542,391 (GRCm39) M474K probably benign Het
Zscan18 T C 7: 12,509,206 (GRCm39) probably benign Het
Other mutations in Spi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1778:Spi1 UTSW 2 90,929,867 (GRCm39) missense probably damaging 1.00
R1893:Spi1 UTSW 2 90,944,702 (GRCm39) missense probably benign 0.04
R4230:Spi1 UTSW 2 90,945,680 (GRCm39) missense probably damaging 1.00
R5169:Spi1 UTSW 2 90,945,428 (GRCm39) nonsense probably null
R6025:Spi1 UTSW 2 90,944,685 (GRCm39) missense probably benign
R6877:Spi1 UTSW 2 90,944,741 (GRCm39) missense probably damaging 0.98
R7052:Spi1 UTSW 2 90,943,685 (GRCm39) missense probably damaging 1.00
R8401:Spi1 UTSW 2 90,943,650 (GRCm39) missense probably benign 0.00
R8725:Spi1 UTSW 2 90,945,516 (GRCm39) missense probably damaging 1.00
R9026:Spi1 UTSW 2 90,912,862 (GRCm39) missense unknown
R9546:Spi1 UTSW 2 90,943,617 (GRCm39) missense probably benign 0.08
R9752:Spi1 UTSW 2 90,943,666 (GRCm39) missense probably benign 0.00
X0019:Spi1 UTSW 2 90,927,330 (GRCm39) missense possibly damaging 0.78
Posted On 2015-04-16