Incidental Mutation 'R4230:Spi1'
| ID |
320767 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
041049-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4230 (G1)
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90912750-90946104 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90945680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 254
(F254L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002180]
[ENSMUST00000111430]
[ENSMUST00000132741]
[ENSMUST00000137942]
[ENSMUST00000169776]
[ENSMUST00000169852]
|
| AlphaFold |
P17433 |
| PDB Structure |
PU.1 ETS DOMAIN-DNA COMPLEX [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002180
AA Change: F254L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111
AA Change: F254L
| 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 benign
Transcript: ENSMUST00000111430
|
| SMART Domains |
Protein: ENSMUSP00000107058
Gene: ENSMUSG00000002100
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
24 |
103 |
4.86e-2 |
SMART |
|
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
|
IG
|
167 |
263 |
2.81e-7 |
SMART |
|
IG
|
373 |
453 |
1.25e-4 |
SMART |
|
IG
|
463 |
544 |
2.48e-8 |
SMART |
|
IG
|
554 |
640 |
3.16e-1 |
SMART |
|
IG
|
659 |
772 |
3.91e-6 |
SMART |
|
FN3
|
775 |
858 |
2.5e-11 |
SMART |
|
FN3
|
873 |
956 |
7.06e-11 |
SMART |
|
IG
|
983 |
1066 |
3.3e-4 |
SMART |
|
FN3
|
1069 |
1151 |
4.38e-7 |
SMART |
|
IGc2
|
1196 |
1263 |
6.21e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137942
|
| SMART Domains |
Protein: ENSMUSP00000119994
Gene: ENSMUSG00000002100
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
3 |
99 |
2.81e-7 |
SMART |
|
low complexity region
|
135 |
152 |
N/A |
INTRINSIC |
|
IG
|
209 |
289 |
1.25e-4 |
SMART |
|
IG
|
299 |
380 |
2.48e-8 |
SMART |
|
IG
|
390 |
476 |
3.16e-1 |
SMART |
|
IG
|
495 |
608 |
3.91e-6 |
SMART |
|
FN3
|
611 |
694 |
2.5e-11 |
SMART |
|
FN3
|
709 |
792 |
7.06e-11 |
SMART |
|
IG
|
819 |
902 |
3.3e-4 |
SMART |
|
FN3
|
905 |
987 |
4.38e-7 |
SMART |
|
IGc2
|
1032 |
1099 |
6.21e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169776
|
| SMART Domains |
Protein: ENSMUSP00000127070
Gene: ENSMUSG00000002100
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
24 |
103 |
4.86e-2 |
SMART |
|
low complexity region
|
131 |
143 |
N/A |
INTRINSIC |
|
IG
|
167 |
263 |
2.81e-7 |
SMART |
|
IG
|
374 |
454 |
1.25e-4 |
SMART |
|
IG
|
464 |
545 |
2.48e-8 |
SMART |
|
IG
|
555 |
641 |
3.16e-1 |
SMART |
|
IG
|
660 |
773 |
3.91e-6 |
SMART |
|
FN3
|
776 |
859 |
2.5e-11 |
SMART |
|
FN3
|
874 |
957 |
7.06e-11 |
SMART |
|
IG
|
984 |
1067 |
3.3e-4 |
SMART |
|
FN3
|
1070 |
1152 |
4.38e-7 |
SMART |
|
IGc2
|
1197 |
1264 |
6.21e-9 |
SMART |
|
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Alg11 |
T |
A |
8: 22,555,534 (GRCm39) |
I223N |
probably damaging |
Het |
| Ankrd26 |
G |
C |
6: 118,536,349 (GRCm39) |
|
probably null |
Het |
| Apbb1 |
T |
C |
7: 105,216,891 (GRCm39) |
D264G |
probably damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,168,770 (GRCm39) |
Y918H |
probably benign |
Het |
| Astn2 |
T |
G |
4: 65,829,919 (GRCm39) |
T584P |
probably damaging |
Het |
| Atxn7 |
G |
A |
14: 14,100,381 (GRCm38) |
S689N |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,606,837 (GRCm39) |
N873S |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,987 (GRCm38) |
I857F |
probably damaging |
Het |
| Cfap119 |
T |
A |
7: 127,186,002 (GRCm39) |
M102L |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,900,229 (GRCm39) |
T511A |
probably benign |
Het |
| Dppa3 |
A |
T |
6: 122,606,291 (GRCm39) |
N118I |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,234,909 (GRCm39) |
N3663D |
probably benign |
Het |
| Eif1ad14 |
A |
T |
12: 87,886,567 (GRCm39) |
S21T |
unknown |
Het |
| Eme1 |
G |
A |
11: 94,538,818 (GRCm39) |
T354M |
possibly damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Itln1 |
G |
A |
1: 171,362,375 (GRCm39) |
T2I |
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,618,180 (GRCm39) |
M309K |
possibly damaging |
Het |
| Kcnk5 |
C |
A |
14: 20,194,852 (GRCm39) |
C162F |
probably damaging |
Het |
| Metrn |
A |
G |
17: 26,015,915 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,259 (GRCm39) |
Y3402N |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,253 (GRCm39) |
|
probably null |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Onecut3 |
T |
C |
10: 80,349,793 (GRCm39) |
I429T |
probably damaging |
Het |
| Or2n1 |
A |
C |
17: 38,486,772 (GRCm39) |
I266L |
possibly damaging |
Het |
| Or2z9 |
T |
C |
8: 72,854,188 (GRCm39) |
Y195H |
probably damaging |
Het |
| Or4k37 |
T |
G |
2: 111,159,475 (GRCm39) |
L237R |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,787,329 (GRCm39) |
S858P |
possibly damaging |
Het |
| Phf11c |
A |
T |
14: 59,630,516 (GRCm39) |
V63E |
probably benign |
Het |
| Rasa3 |
A |
G |
8: 13,620,264 (GRCm39) |
F802L |
possibly damaging |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Sec61a1 |
A |
T |
6: 88,492,413 (GRCm39) |
|
probably null |
Het |
| Slc45a3 |
T |
A |
1: 131,909,399 (GRCm39) |
L532Q |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,048 (GRCm39) |
I292V |
probably benign |
Het |
| Smg1 |
C |
T |
7: 117,747,956 (GRCm39) |
|
probably null |
Het |
| Spag6 |
T |
A |
2: 18,720,449 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,901,216 (GRCm39) |
T292A |
probably damaging |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,554,464 (GRCm39) |
I30784V |
possibly damaging |
Het |
| Urod |
T |
A |
4: 116,849,880 (GRCm39) |
T173S |
probably benign |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Vmn2r2 |
T |
A |
3: 64,041,912 (GRCm39) |
I268L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,320,292 (GRCm39) |
T1101M |
probably benign |
Het |
| Zc3h12c |
T |
A |
9: 52,055,728 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Spi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02591:Spi1
|
APN |
2 |
90,927,295 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGGACAGCATCTGGTGG -3'
(R):5'- ACTTCTCTGGGAGAATAGCTGTC -3'
Sequencing Primer
(F):5'- ACAGCATCTGGTGGGTGGAC -3'
(R):5'- GAAGCACCGTGGCCACTAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation