Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Sp140'

371590

Institutional Source

Beutler Lab

Gene Symbol

Sp140

Ensembl Gene

ENSMUSG00000070031

Gene Name

Sp140 nuclear body protein

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4839 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

85528099-85572758 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CAGAAGAAG to CAGAAG at 85538529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,845 (GRCm39)	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,652,023 (GRCm39)	Y68*	probably null	Het
Abat	T	G	16: 8,401,512 (GRCm39)		probably benign	Het
Abca2	C	T	2: 25,330,921 (GRCm39)	S1203F	probably damaging	Het
Adam22	G	A	5: 8,186,813 (GRCm39)	P436L	probably damaging	Het
Ak3	A	C	19: 29,025,132 (GRCm39)	L33R	probably damaging	Het
Arhgap11a	A	T	2: 113,672,374 (GRCm39)	I198K	probably damaging	Het
Arl14epl	A	T	18: 47,065,544 (GRCm39)	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,693,896 (GRCm39)	N65K	probably damaging	Het
Btnl2	G	A	17: 34,584,260 (GRCm39)	W394*	probably null	Het
Cacna1e	C	A	1: 154,296,804 (GRCm39)	R1687L	probably damaging	Het
Cacna1g	G	T	11: 94,350,433 (GRCm39)	R471S	probably benign	Het
Cdh13	A	T	8: 119,578,587 (GRCm39)	R205*	probably null	Het
Cdkl3	A	T	11: 51,895,861 (GRCm39)	Y36F	probably damaging	Het
Cep290	T	A	10: 100,344,648 (GRCm39)	N488K	probably damaging	Het
Cep350	A	T	1: 155,804,240 (GRCm39)	C948S	probably benign	Het
Cep70	A	G	9: 99,178,138 (GRCm39)	K446R	probably benign	Het
Cfap70	T	C	14: 20,475,597 (GRCm39)	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,487,871 (GRCm39)	L9S	probably damaging	Het
Chrm4	T	A	2: 91,757,952 (GRCm39)	M120K	probably damaging	Het
Col1a1	A	G	11: 94,840,921 (GRCm39)		probably null	Het
Col3a1	T	C	1: 45,362,963 (GRCm39)		probably null	Het
Csrnp3	A	T	2: 65,852,375 (GRCm39)	R256*	probably null	Het
Dbf4	T	A	5: 8,458,263 (GRCm39)	K190*	probably null	Het
Dnah10	A	T	5: 124,850,196 (GRCm39)	I1573F	probably damaging	Het
Dock8	A	G	19: 25,146,858 (GRCm39)	I1446V	probably benign	Het
Dst	G	T	1: 34,229,943 (GRCm39)	R2187M	probably damaging	Het
Ece2	C	T	16: 20,449,918 (GRCm39)	R257C	probably damaging	Het
Espn	A	G	4: 152,222,961 (GRCm39)	Y306H	probably damaging	Het
Fkbpl	G	A	17: 34,864,839 (GRCm39)	M202I	probably benign	Het
Fn1	A	G	1: 71,681,242 (GRCm39)	L362P	probably damaging	Het
Ganc	A	C	2: 120,290,304 (GRCm39)	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,685,695 (GRCm39)	L90Q	probably damaging	Het
Hcn1	T	A	13: 118,062,246 (GRCm39)	I504N	unknown	Het
Hdac2	C	A	10: 36,873,462 (GRCm39)	T352K	probably benign	Het
Hip1	T	C	5: 135,455,172 (GRCm39)		probably null	Het
Hspa13	G	A	16: 75,562,169 (GRCm39)	S10L	probably damaging	Het
Ipo5	T	C	14: 121,157,450 (GRCm39)	I96T	probably benign	Het
Isl1	T	C	13: 116,438,220 (GRCm39)	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,275,657 (GRCm39)	I322T	probably benign	Het
Kars1	A	C	8: 112,729,158 (GRCm39)	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,093,086 (GRCm39)	M84I	probably benign	Het
Magi1	A	T	6: 93,671,177 (GRCm39)	V796E	probably damaging	Het
Matn4	G	T	2: 164,242,896 (GRCm39)	D67E	probably benign	Het
Mertk	A	G	2: 128,624,496 (GRCm39)	M636V	probably damaging	Het
Mettl27	C	A	5: 134,963,266 (GRCm39)	P126T	probably damaging	Het
Mfrp	T	A	9: 44,013,432 (GRCm39)	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,038,656 (GRCm39)	I109R	probably benign	Het
Mroh2a	G	A	1: 88,165,666 (GRCm39)	G512S	probably damaging	Het
Ncoa7	T	A	10: 30,598,655 (GRCm39)	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nin	G	T	12: 70,137,325 (GRCm39)	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,962,893 (GRCm39)	I826F	possibly damaging	Het
Or10d1	A	G	9: 39,484,441 (GRCm39)	M38T	probably benign	Het
Or14c43	T	C	7: 86,115,117 (GRCm39)	F166S	probably damaging	Het
Or1j11	G	A	2: 36,312,012 (GRCm39)	V201I	probably benign	Het
Or4l15	C	T	14: 50,197,646 (GRCm39)	M294I	probably benign	Het
Or52a5b	T	C	7: 103,416,961 (GRCm39)	I214M	possibly damaging	Het
Or5k3	A	G	16: 58,969,393 (GRCm39)	Y60C	probably damaging	Het
Or5p73	T	C	7: 108,064,938 (GRCm39)	S136P	probably benign	Het
Otof	C	T	5: 30,576,748 (GRCm39)	R168H	probably damaging	Het
Pcdha6	T	C	18: 37,101,485 (GRCm39)	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,391,166 (GRCm39)	I200V	possibly damaging	Het
Ppat	G	A	5: 77,098,811 (GRCm39)	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,342,192 (GRCm39)	H27L	probably damaging	Het
Rbm27	T	A	18: 42,460,510 (GRCm39)	I775N	probably damaging	Het
Rnf40	C	T	7: 127,191,812 (GRCm39)	R349*	probably null	Het
Rtp3	A	T	9: 110,818,544 (GRCm39)	W46R	probably damaging	Het
Sass6	C	T	3: 116,403,949 (GRCm39)	R196W	probably damaging	Het
Sel1l	A	T	12: 91,799,932 (GRCm39)	D131E	probably benign	Het
Slain2	T	C	5: 73,106,066 (GRCm39)	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,264,176 (GRCm39)		probably null	Het
Spata31e2	T	C	1: 26,724,440 (GRCm39)	T247A	probably benign	Het
Spef2	A	T	15: 9,713,264 (GRCm39)	Y369*	probably null	Het
Spred2	T	A	11: 19,948,233 (GRCm39)	M76K	possibly damaging	Het
Svs5	T	A	2: 164,078,806 (GRCm39)	D367V	probably benign	Het
Tasor2	G	A	13: 3,634,807 (GRCm39)	P667S	probably damaging	Het
Tefm	A	T	11: 80,027,947 (GRCm39)	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,597,194 (GRCm39)	P425H	probably benign	Het
Thbd	A	T	2: 148,248,591 (GRCm39)	C426S	probably damaging	Het
Timm10b	T	A	7: 105,333,219 (GRCm39)	D968E	probably damaging	Het
Tle2	C	T	10: 81,413,518 (GRCm39)	T119I	probably damaging	Het
Tnik	T	A	3: 28,650,224 (GRCm39)	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,324,948 (GRCm39)	L2400*	probably null	Het
Trrap	T	C	5: 144,782,402 (GRCm39)	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,215,465 (GRCm39)	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 11,910,361 (GRCm39)	M81R	probably benign	Het
Vps13d	T	C	4: 144,812,000 (GRCm39)	T3305A	possibly damaging	Het
Wdr62	T	C	7: 29,970,111 (GRCm39)	E232G	probably damaging	Het
Wdr62	T	A	7: 29,940,890 (GRCm39)	I843F	probably benign	Het
Zfp747l1	T	C	7: 126,984,179 (GRCm39)	S308G	probably benign	Het
Zfp873	T	A	10: 81,896,353 (GRCm39)	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,452,047 (GRCm39)	H539P	probably damaging	Het

Other mutations in Sp140

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Sp140	APN	1	85,569,543 (GRCm39)	nonsense	probably null
IGL00561:Sp140	APN	1	85,549,393 (GRCm39)	missense	probably benign	0.00
IGL00572:Sp140	APN	1	85,549,393 (GRCm39)	missense	probably benign	0.00
IGL00591:Sp140	APN	1	85,549,393 (GRCm39)	missense	probably benign	0.00
IGL00990:Sp140	APN	1	85,553,854 (GRCm39)	missense	probably benign	0.00
IGL00990:Sp140	APN	1	85,553,886 (GRCm39)	missense	possibly damaging	0.59
IGL02106:Sp140	APN	1	85,570,940 (GRCm39)	missense	probably benign	0.01
IGL02303:Sp140	APN	1	85,570,730 (GRCm39)	nonsense	probably null
PIT4131001:Sp140	UTSW	1	85,538,603 (GRCm39)	missense	probably benign	0.03
PIT4131001:Sp140	UTSW	1	85,528,893 (GRCm39)	missense	probably benign	0.03
PIT4131001:Sp140	UTSW	1	85,570,942 (GRCm39)	missense	probably benign
PIT4142001:Sp140	UTSW	1	85,570,942 (GRCm39)	missense	probably benign
PIT4142001:Sp140	UTSW	1	85,538,603 (GRCm39)	missense	probably benign	0.03
PIT4142001:Sp140	UTSW	1	85,528,893 (GRCm39)	missense	probably benign	0.03
R0378:Sp140	UTSW	1	85,547,772 (GRCm39)	splice site	probably benign
R0815:Sp140	UTSW	1	85,547,772 (GRCm39)	splice site	probably benign
R1320:Sp140	UTSW	1	85,563,329 (GRCm39)	critical splice donor site	probably null
R1642:Sp140	UTSW	1	85,538,545 (GRCm39)	splice site	probably null
R1791:Sp140	UTSW	1	85,547,772 (GRCm39)	splice site	probably benign
R4776:Sp140	UTSW	1	85,538,549 (GRCm39)	missense	possibly damaging	0.46
R4780:Sp140	UTSW	1	85,538,549 (GRCm39)	missense	possibly damaging	0.46
R5051:Sp140	UTSW	1	85,538,549 (GRCm39)	missense	possibly damaging	0.46
R5287:Sp140	UTSW	1	85,538,545 (GRCm39)	splice site	probably null
R5379:Sp140	UTSW	1	85,538,549 (GRCm39)	missense	possibly damaging	0.46
R6518:Sp140	UTSW	1	85,572,291 (GRCm39)	critical splice acceptor site	probably benign
R7125:Sp140	UTSW	1	85,572,290 (GRCm39)	critical splice acceptor site	probably benign
R7128:Sp140	UTSW	1	85,547,846 (GRCm39)	missense	possibly damaging	0.63
R7785:Sp140	UTSW	1	85,547,819 (GRCm39)	missense	probably benign	0.00
R8033:Sp140	UTSW	1	85,547,815 (GRCm39)	missense	probably benign	0.01
R8481:Sp140	UTSW	1	85,569,512 (GRCm39)	missense	probably damaging	0.99
R8501:Sp140	UTSW	1	85,569,461 (GRCm39)	missense	probably damaging	1.00
R8830:Sp140	UTSW	1	85,572,295 (GRCm39)	critical splice acceptor site	probably benign
R8994:Sp140	UTSW	1	85,549,603 (GRCm39)	splice site	probably null
R9053:Sp140	UTSW	1	85,572,290 (GRCm39)	critical splice acceptor site	probably benign
R9137:Sp140	UTSW	1	85,570,297 (GRCm39)	missense	probably damaging	0.99
R9594:Sp140	UTSW	1	85,560,235 (GRCm39)	missense	possibly damaging	0.50
R9777:Sp140	UTSW	1	85,569,461 (GRCm39)	missense	probably damaging	0.99
Z1191:Sp140	UTSW	1	85,569,524 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACCTTGGTATTTGCAAAACTCAGAC -3'
(R):5'- TGCTTGGCATGACATAGTCTC -3'

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

Posted On

2016-03-01