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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |