Mutagenetix > Incidental Mutation

Incidental Mutation 'R0378:Sp140'

216061

Institutional Source

Beutler Lab

Gene Symbol

Sp140

Ensembl Gene

ENSMUSG00000070031

Gene Name

Sp140 nuclear body protein

Synonyms

MMRRC Submission

038584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R0378 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85600378-85645037 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 85620051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080204]

AlphaFold

Q6NSQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000080204

SMART Domains

Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031

Domain	Start	End	E-Value	Type
Pfam:Sp100	24	121	5.1e-40	PFAM
low complexity region	213	223	N/A	INTRINSIC
low complexity region	240	248	N/A	INTRINSIC
SAND	256	329	4.17e-34	SMART
PHD	360	402	3.7e-8	SMART
BROMO	423	526	4.49e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162925

SMART Domains

Protein: ENSMUSP00000123756
Gene: ENSMUSG00000070031

Domain	Start	End	E-Value	Type
low complexity region	117	127	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.0%
20x: 94.8%

Validation Efficiency

95% (40/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	C	A	8: 113,743,117	R651L	probably damaging	Het
Amd1	T	C	10: 40,289,384	D317G	possibly damaging	Het
Artn	A	G	4: 117,927,618		probably benign	Het
Asna1	A	T	8: 85,025,264	M1K	probably null	Het
Bub1b	T	A	2: 118,641,123	V988E	probably benign	Het
Cyp2c65	G	T	19: 39,073,218	C216F	probably benign	Het
Cyp3a11	T	C	5: 145,868,607	E200G	probably benign	Het
Cyp3a25	T	A	5: 145,986,842	K330N	probably damaging	Het
Duox2	C	A	2: 122,284,583	V1138L	probably benign	Het
Erc2	A	G	14: 28,011,694	D567G	probably damaging	Het
Eri2	A	G	7: 119,793,916		probably null	Het
Foxa3	A	G	7: 19,023,369	Y17H	probably damaging	Het
Fto	T	C	8: 91,474,312	S324P	probably damaging	Het
Gls2	T	G	10: 128,207,311	L457R	probably benign	Het
Gstcd	A	T	3: 132,986,408	L582H	probably damaging	Het
Gtf3c1	G	A	7: 125,647,614	R1508*	probably null	Het
Kif21a	T	C	15: 90,969,774		probably null	Het
Klra5	A	T	6: 129,906,614	D93E	possibly damaging	Het
Lgr5	T	C	10: 115,454,499	D456G	probably damaging	Het
Mau2	A	G	8: 70,030,655	S186P	probably damaging	Het
Msr1	T	C	8: 39,589,382	D384G	possibly damaging	Het
Mum1	C	A	10: 80,238,879		probably null	Het
Ncf4	T	C	15: 78,253,303	V93A	probably damaging	Het
Oas1f	T	G	5: 120,856,426	C337G	probably damaging	Het
Olfr119	A	G	17: 37,701,041	M124V	probably damaging	Het
Olfr482	A	T	7: 108,095,222	F116Y	probably benign	Het
Olfr820	T	A	10: 130,018,003	L214H	probably damaging	Het
Rasl10b	T	C	11: 83,418,693	S159P	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Smg8	C	A	11: 87,080,423	D841Y	probably damaging	Het
Sox7	T	C	14: 63,943,949	V65A	probably damaging	Het
Srsf10	A	G	4: 135,863,190	Y142C	possibly damaging	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcerg1l	A	G	7: 138,276,655	V326A	probably benign	Het
Tcl1b5	T	A	12: 105,179,067	W97R	probably damaging	Het
Tmem108	T	C	9: 103,499,657	R198G	possibly damaging	Het
Ube2ql1	T	A	13: 69,738,898	Q148L	possibly damaging	Het
Vmn1r5	A	T	6: 56,985,585	I82L	probably benign	Het
Wdr6	A	T	9: 108,575,864	S273R	probably damaging	Het
Ylpm1	C	T	12: 84,997,076		probably benign	Het
Zfp90	G	A	8: 106,425,506	R617Q	possibly damaging	Het

Other mutations in Sp140

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Sp140	APN	1	85641822	nonsense	probably null
IGL00561:Sp140	APN	1	85621672	missense	probably benign	0.00
IGL00572:Sp140	APN	1	85621672	missense	probably benign	0.00
IGL00591:Sp140	APN	1	85621672	missense	probably benign	0.00
IGL00990:Sp140	APN	1	85626165	missense	possibly damaging	0.59
IGL00990:Sp140	APN	1	85626133	missense	probably benign	0.00
IGL02106:Sp140	APN	1	85643219	missense	probably benign	0.01
IGL02303:Sp140	APN	1	85643009	nonsense	probably null
PIT4131001:Sp140	UTSW	1	85601172	missense	probably benign	0.03
PIT4131001:Sp140	UTSW	1	85610882	missense	probably benign	0.03
PIT4131001:Sp140	UTSW	1	85643221	missense	probably benign
PIT4142001:Sp140	UTSW	1	85601172	missense	probably benign	0.03
PIT4142001:Sp140	UTSW	1	85610882	missense	probably benign	0.03
PIT4142001:Sp140	UTSW	1	85643221	missense	probably benign
R0815:Sp140	UTSW	1	85620051	splice site	probably benign
R1320:Sp140	UTSW	1	85635608	critical splice donor site	probably null
R1642:Sp140	UTSW	1	85610824	splice site	probably null
R1791:Sp140	UTSW	1	85620051	splice site	probably benign
R4776:Sp140	UTSW	1	85610828	missense	possibly damaging	0.46
R4780:Sp140	UTSW	1	85610828	missense	possibly damaging	0.46
R4839:Sp140	UTSW	1	85610808	unclassified	probably benign
R5051:Sp140	UTSW	1	85610828	missense	possibly damaging	0.46
R5287:Sp140	UTSW	1	85610824	splice site	probably null
R5379:Sp140	UTSW	1	85610828	missense	possibly damaging	0.46
R6518:Sp140	UTSW	1	85644570	critical splice acceptor site	probably benign
R7125:Sp140	UTSW	1	85644569	critical splice acceptor site	probably benign
R7128:Sp140	UTSW	1	85620125	missense	possibly damaging	0.63
R7785:Sp140	UTSW	1	85620098	missense	probably benign	0.00
R8033:Sp140	UTSW	1	85620094	missense	probably benign	0.01
R8481:Sp140	UTSW	1	85641791	missense	probably damaging	0.99
R8501:Sp140	UTSW	1	85641740	missense	probably damaging	1.00
R8830:Sp140	UTSW	1	85644574	critical splice acceptor site	probably benign
R8994:Sp140	UTSW	1	85621882	splice site	probably null
R9053:Sp140	UTSW	1	85644569	critical splice acceptor site	probably benign
R9137:Sp140	UTSW	1	85642576	missense	probably damaging	0.99
R9594:Sp140	UTSW	1	85632514	missense	possibly damaging	0.50
R9777:Sp140	UTSW	1	85641740	missense	probably damaging	0.99
Z1191:Sp140	UTSW	1	85641803	missense	probably damaging	0.96

Predicted Primers

Posted On

2014-07-18