Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Sp140'

430164

Institutional Source

Beutler Lab

Gene Symbol

Sp140

Ensembl Gene

ENSMUSG00000070031

Gene Name

Sp140 nuclear body protein

Synonyms

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R4776 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85600378-85645037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85610828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 95 (D95E)

Ref Sequence

ENSEMBL: ENSMUSP00000079095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080204] [ENSMUST00000113385]

AlphaFold

Q6NSQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080204
AA Change: D95E

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031
AA Change: D95E

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: ENSMUST00000113385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161763

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,535	Y683*	probably null	Het
2610028H24Rik	A	T	10: 76,457,512	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,579,724	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,736,873	I373T	probably benign	Het
A830010M20Rik	C	A	5: 107,510,451	A1117E	probably damaging	Het
Amotl1	G	A	9: 14,593,373	Q217*	probably null	Het
Ankrd28	A	T	14: 31,732,054	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,901,546		probably benign	Het
Arfgef3	A	T	10: 18,654,247	S245T	probably benign	Het
Arntl	A	T	7: 113,285,037	K94I	probably damaging	Het
Atp1b2	A	T	11: 69,601,561	D224E	probably damaging	Het
Boc	G	A	16: 44,487,721	R924W	probably damaging	Het
Car14	C	T	3: 95,898,873	G292D	probably benign	Het
Cenpb	T	C	2: 131,178,183		probably benign	Het
Ces1b	A	T	8: 93,063,030	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,972,694	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 100,006,541		probably benign	Het
Cic	T	G	7: 25,282,883	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,442,892	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,692,446	D1779V	probably damaging	Het
Dock9	G	T	14: 121,610,097	H1016N	possibly damaging	Het
Dxo	T	C	17: 34,838,998	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,500,233	F78I	probably damaging	Het
Eri2	A	G	7: 119,784,946		probably benign	Het
Fam208b	A	G	13: 3,570,391	F2170S	probably damaging	Het
Fbxw7	T	G	3: 84,925,689	L13V	possibly damaging	Het
Fgf7	T	A	2: 126,035,783	C23*	probably null	Het
Fubp1	T	A	3: 152,222,068		probably null	Het
Gm2663	A	T	6: 40,995,953	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,548,096	Q140*	probably null	Het
Gnptab	G	A	10: 88,436,528	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,822,878	W544*	probably null	Het
Gucy2c	C	T	6: 136,722,514	E586K	probably damaging	Het
Hc	T	A	2: 35,039,734	E232V	probably benign	Het
Ifi207	T	A	1: 173,730,056	D372V	unknown	Het
Igkv8-28	A	T	6: 70,144,118	V15E	probably benign	Het
Il1rap	A	G	16: 26,692,799	S198G	possibly damaging	Het
Lct	A	G	1: 128,300,387	I1123T	probably damaging	Het
Lhcgr	T	C	17: 88,742,697	E467G	probably damaging	Het
Macf1	C	T	4: 123,476,015	R86K	probably benign	Het
Maml3	T	A	3: 51,856,532	Q337L	probably benign	Het
March10	T	A	11: 105,390,037	D474V	probably benign	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mast1	A	G	8: 84,937,193		probably null	Het
Med12l	T	C	3: 59,233,212	I868T	probably damaging	Het
Msrb1	T	C	17: 24,740,173	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,066,126	L342P	probably benign	Het
Nrxn3	T	A	12: 90,331,956	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,934,713	D248V	probably damaging	Het
Oaz3	T	C	3: 94,434,998	Q117R	probably benign	Het
Olfr1311	A	G	2: 112,020,931	Y308H	probably benign	Het
Olfr444	A	G	6: 42,955,521	I8V	probably benign	Het
Olfr589	A	G	7: 103,155,414	L111P	probably benign	Het
Osbpl3	A	C	6: 50,300,973	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,685,871		probably benign	Het
Pard6b	A	G	2: 168,098,788	T232A	probably damaging	Het
Paxip1	A	T	5: 27,765,206	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,523,818	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932		probably benign	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sel1l	T	A	12: 91,813,893	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,940,314	L105Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,335,722	K227E	probably benign	Het
Slc25a34	A	T	4: 141,623,588	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,397,049	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,098,824	D731V	probably null	Het
Sox6	T	G	7: 115,541,670	K483N	probably damaging	Het
Srgap1	G	T	10: 121,792,351	D882E	probably benign	Het
Syne4	T	C	7: 30,316,833		probably benign	Het
Tec	T	C	5: 72,768,776	Y289C	probably benign	Het
Tmem102	A	T	11: 69,804,802	Y115N	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trav17	T	A	14: 53,806,640	M1K	probably null	Het
Trdn	T	A	10: 33,399,082		probably null	Het
Trp53	A	T	11: 69,586,921	I8F	probably benign	Het
Ttn	T	A	2: 76,754,662	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,632,838		probably null	Het
Ulk1	C	T	5: 110,788,947		probably null	Het
Upp1	T	C	11: 9,135,976	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,388,661	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,597,508	G449D	probably damaging	Het
Vps37b	T	C	5: 124,006,612	K165E	probably damaging	Het
Vwf	A	T	6: 125,566,305	I185F	possibly damaging	Het
Wasf2	A	G	4: 133,185,004	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,973,589	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,254,884	S57P	probably benign	Het
Zxdc	A	G	6: 90,370,518	H287R	probably 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
R0378:Sp140	UTSW	1	85620051	splice site	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
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

PCR Primer
(F):5'- CCTTGGTATTTGCAAAACTCAGAC -3'
(R):5'- TGTGCTTGGCATGACATAGTCTC -3'

Sequencing Primer
(F):5'- GTTTGAACCAATGTAAGCC -3'
(R):5'- CTGGTCTACAAAGTGAGCTCCAG -3'

Posted On

2016-09-07