Mutagenetix > Incidental Mutation

Incidental Mutation 'R6877:Spi1'

536447

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

044973-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6877 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90912750-90946104 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90944741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 162 (L162P)

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: L162P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111
AA Change: L162P

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

94% (47/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,078,274 (GRCm39)	H650R	probably benign	Het
Adgrl2	T	C	3: 148,522,922 (GRCm39)	Y1367C	probably damaging	Het
Aqr	A	T	2: 113,947,052 (GRCm39)	C1043*	probably null	Het
Arhgef17	A	G	7: 100,530,548 (GRCm39)	S1413P	probably damaging	Het
AU041133	A	G	10: 81,987,405 (GRCm39)	T352A	probably benign	Het
Bcl7a	A	G	5: 123,489,958 (GRCm39)	T41A	probably damaging	Het
Btbd10	A	T	7: 112,921,967 (GRCm39)	F298Y	probably damaging	Het
Ccdc57	G	A	11: 120,764,528 (GRCm39)	T749I	probably benign	Het
Clcnkb	T	C	4: 141,132,143 (GRCm39)	N646S	probably benign	Het
Dcst1	T	C	3: 89,257,667 (GRCm39)	D701G	probably benign	Het
Dnah14	C	A	1: 181,455,997 (GRCm39)	T1001K	possibly damaging	Het
Dnah8	G	T	17: 30,965,933 (GRCm39)	G2422W	probably damaging	Het
Dyrk2	A	T	10: 118,696,328 (GRCm39)	I310N	probably damaging	Het
Eif5b	A	T	1: 38,089,320 (GRCm39)	N1099Y	probably damaging	Het
Elp2	T	A	18: 24,768,033 (GRCm39)	N762K	probably benign	Het
Esco2	A	G	14: 66,068,494 (GRCm39)	V272A	probably benign	Het
Fat3	A	C	9: 15,910,564 (GRCm39)	S1813A	probably benign	Het
Igf2r	A	G	17: 12,916,228 (GRCm39)	V1710A	probably damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kcnk5	T	C	14: 20,194,784 (GRCm39)	T185A	possibly damaging	Het
Litafd	G	A	16: 8,501,173 (GRCm39)	V10I	unknown	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nol4	A	T	18: 22,852,186 (GRCm39)	C460S	probably benign	Het
Ntaq1	C	A	15: 58,017,074 (GRCm39)	P163Q	probably damaging	Het
Or10g3b	T	A	14: 52,587,270 (GRCm39)	I78F	possibly damaging	Het
Or4f14b	T	C	2: 111,775,184 (GRCm39)	I206V	probably benign	Het
Ovch2	G	A	7: 107,389,315 (GRCm39)	A371V	probably benign	Het
Pcdhb4	A	G	18: 37,442,625 (GRCm39)	D645G	probably damaging	Het
Pcnt	A	C	10: 76,269,851 (GRCm39)	S207A	possibly damaging	Het
Pex1	A	T	5: 3,685,505 (GRCm39)	Q1211L	probably benign	Het
Pnn	A	G	12: 59,115,553 (GRCm39)	E99G	probably damaging	Het
Prkrip1	A	T	5: 136,218,478 (GRCm39)		probably null	Het
Rnf133	A	G	6: 23,649,486 (GRCm39)	F191L	probably benign	Het
Scn10a	T	C	9: 119,438,848 (GRCm39)	T1674A	probably damaging	Het
Sdccag8	G	A	1: 176,839,501 (GRCm39)	V682M	probably damaging	Het
Sptan1	C	G	2: 29,920,985 (GRCm39)	N2432K	probably damaging	Het
Stx2	A	G	5: 129,064,884 (GRCm39)	V271A	probably benign	Het
Sumf2	G	A	5: 129,878,867 (GRCm39)	D68N	probably damaging	Het
Tsc22d4	A	G	5: 137,760,855 (GRCm39)	E92G	possibly damaging	Het
Ube3c	G	T	5: 29,792,316 (GRCm39)	R37L	probably benign	Het
Ubr5	A	G	15: 38,002,814 (GRCm39)	S1446P	probably damaging	Het
Veph1	T	C	3: 66,162,505 (GRCm39)	N51S	probably damaging	Het
Vmn1r82	T	C	7: 12,039,290 (GRCm39)	F70L	possibly damaging	Het
Vmn2r92	A	G	17: 18,389,084 (GRCm39)	N466S	probably damaging	Het
Vwf	T	A	6: 125,634,164 (GRCm39)	V2153D	possibly damaging	Het
Yeats2	A	G	16: 19,998,344 (GRCm39)	T300A	probably benign	Het
Zc3h12d	G	T	10: 7,715,735 (GRCm39)	R46L	probably damaging	Het
Zfp516	T	C	18: 82,973,916 (GRCm39)	I38T	probably damaging	Het
Zic5	G	A	14: 122,697,100 (GRCm39)	T505I	unknown	Het
Zpld1	C	T	16: 55,072,034 (GRCm39)	G75E	probably damaging	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
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
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'- TATGGACTTCACGCCTGTTC -3'
(R):5'- CGCACTTTGAAATGATGCCTG -3'

Sequencing Primer
(F):5'- GCCTGTTCTTCCCTTTGCAGG -3'
(R):5'- CCTGTACAGGTAGAGAAGCATCC -3'

Posted On

2018-10-18