Mutagenetix > Incidental Mutation

Incidental Mutation 'R6025:Spi1'

479954

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

044197-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90912750-90946104 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90944685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 135 (L135P)

Ref Sequence

ENSEMBL: ENSMUSP00000130368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002180] [ENSMUST00000111430] [ENSMUST00000132741] [ENSMUST00000137942] [ENSMUST00000169776] [ENSMUST00000169852]

AlphaFold

P17433

Predicted Effect

silent
Transcript: ENSMUST00000002180

SMART Domains

Protein: ENSMUSP00000002180
Gene: ENSMUSG00000002111

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
AA Change: L135P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130368
Gene: ENSMUSG00000002111
AA Change: L135P

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 92.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	GC	G	11: 59,101,139 (GRCm39)		probably null	Het
Acvr1b	C	A	15: 101,092,856 (GRCm39)	D166E	probably benign	Het
Adgra2	T	C	8: 27,604,491 (GRCm39)	I522T	probably damaging	Het
Adgre4	C	T	17: 56,099,013 (GRCm39)	S173L	probably benign	Het
Akap9	A	T	5: 4,082,801 (GRCm39)	Q1975L	probably damaging	Het
Ap3d1	T	A	10: 80,546,298 (GRCm39)	M965L	probably benign	Het
Brca2	CATA	CA	5: 150,465,040 (GRCm39)		probably null	Het
Chd6	T	C	2: 160,807,502 (GRCm39)	N1904S	probably benign	Het
Clstn3	A	T	6: 124,408,623 (GRCm39)	S896R	possibly damaging	Het
Col6a3	T	A	1: 90,755,824 (GRCm39)	D155V	probably damaging	Het
Dct	T	C	14: 118,273,876 (GRCm39)	T344A	possibly damaging	Het
Dctn1	T	A	6: 83,170,673 (GRCm39)		probably null	Het
Dgkz	T	C	2: 91,776,255 (GRCm39)	T3A	possibly damaging	Het
Duoxa2	T	C	2: 122,132,332 (GRCm39)	S249P	possibly damaging	Het
Ehbp1	A	T	11: 22,189,156 (GRCm39)	V82E	probably damaging	Het
Fcho1	A	T	8: 72,165,217 (GRCm39)		probably null	Het
Garin5b	T	A	7: 4,761,143 (GRCm39)	D523V	probably benign	Het
Ifi213	T	A	1: 173,422,800 (GRCm39)	N22Y	probably damaging	Het
Kcnq1	T	A	7: 142,660,170 (GRCm39)		probably benign	Het
Kif7	T	A	7: 79,354,388 (GRCm39)	Q799L	probably benign	Het
Lmnb1	T	A	18: 56,862,456 (GRCm39)	L206*	probably null	Het
Lonp2	G	T	8: 87,440,001 (GRCm39)	G247V	probably damaging	Het
Ly75	T	C	2: 60,206,306 (GRCm39)	Y121C	probably damaging	Het
Mboat1	C	A	13: 30,408,509 (GRCm39)	T224K	probably benign	Het
Mcm9	T	C	10: 53,492,073 (GRCm39)	E416G	possibly damaging	Het
Mtnr1b	A	T	9: 15,774,093 (GRCm39)	I322N	probably damaging	Het
Nanog	G	A	6: 122,690,350 (GRCm39)	G227R	possibly damaging	Het
Nbn	T	C	4: 15,981,347 (GRCm39)	S480P	probably damaging	Het
Nek10	C	A	14: 14,865,633 (GRCm38)	L638M	probably benign	Het
Nelfcd	T	C	2: 174,268,611 (GRCm39)	V538A	probably damaging	Het
Or1e33	A	T	11: 73,738,745 (GRCm39)	S69T	probably benign	Het
Or2b4	T	G	17: 38,116,312 (GRCm39)	I92S	probably damaging	Het
Or52a5b	T	C	7: 103,417,416 (GRCm39)	I63V	probably benign	Het
Or5b97	T	A	19: 12,879,034 (GRCm39)	T37S	probably benign	Het
Phf24	G	A	4: 42,938,780 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,528 (GRCm39)	S529P	probably damaging	Het
Pik3r5	A	G	11: 68,383,144 (GRCm39)	E321G	probably damaging	Het
Plcb3	G	A	19: 6,933,547 (GRCm39)	T926I	probably benign	Het
Pm20d2	G	A	4: 33,181,833 (GRCm39)	P257S	probably damaging	Het
Pon2	A	G	6: 5,289,057 (GRCm39)	V34A	probably benign	Het
Prkar2b	A	G	12: 32,110,855 (GRCm39)	F76S	possibly damaging	Het
Prpf31	G	A	7: 3,642,668 (GRCm39)	E414K	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Setbp1	A	T	18: 78,902,455 (GRCm39)	L404Q	probably damaging	Het
Slc26a11	C	T	11: 119,265,654 (GRCm39)	A389V	probably damaging	Het
Slc2a1	A	T	4: 118,993,539 (GRCm39)	T459S	possibly damaging	Het
Sspo	T	C	6: 48,463,720 (GRCm39)	L3844P	possibly damaging	Het
Stxbp5	T	A	10: 9,675,772 (GRCm39)	T616S	probably benign	Het
Syde2	A	G	3: 145,712,896 (GRCm39)		probably null	Het
Synm	G	T	7: 67,384,686 (GRCm39)	A550D	possibly damaging	Het
Tanc2	T	C	11: 105,787,373 (GRCm39)	V891A	possibly damaging	Het
Tanc2	G	A	11: 105,758,543 (GRCm39)	R768Q	probably damaging	Het
Tlx1	A	T	19: 45,144,413 (GRCm39)	Q45L	probably damaging	Het
Tmem104	C	A	11: 115,096,349 (GRCm39)	Y191*	probably null	Het
Tmem17	A	C	11: 22,468,659 (GRCm39)	*199C	probably null	Het
Tns3	A	T	11: 8,442,578 (GRCm39)	M595K	possibly damaging	Het
Tyk2	A	G	9: 21,027,256 (GRCm39)	V538A	probably benign	Het
Unc80	A	G	1: 66,734,727 (GRCm39)	D3250G	possibly damaging	Het
Usp4	A	G	9: 108,237,322 (GRCm39)	H130R	possibly damaging	Het
Zfhx2	T	C	14: 55,302,665 (GRCm39)	Q1773R	probably benign	Het
Zfp790	A	G	7: 29,528,970 (GRCm39)	K552E	possibly damaging	Het
Zswim5	G	A	4: 116,808,106 (GRCm39)	R230Q	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
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'- TTGTACCAAGACCTGCACC -3'
(R):5'- TCTGAAACATGGCTGCTGGG -3'

Sequencing Primer
(F):5'- CCTGAGTCTTGGTCCAGACTG -3'
(R):5'- GCCAGTTGACCTTGGCTAG -3'

Posted On

2017-06-26