Mutagenetix > Incidental Mutation

Incidental Mutation 'R1791:Sp140'

250609

Institutional Source

Beutler Lab

Gene Symbol

Sp140

Ensembl Gene

ENSMUSG00000070031

Gene Name

Sp140 nuclear body protein

Synonyms

MMRRC Submission

039821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1791 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85528099-85572758 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 85547772 bp (GRCm39)

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

95% (104/110)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adrm1b	T	A	3: 92,335,538 (GRCm39)	D388V	probably damaging	Het
Akap13	T	G	7: 75,260,783 (GRCm39)	C333G	probably benign	Het
Akap6	T	C	12: 53,115,908 (GRCm39)	S1004P	probably damaging	Het
Akap7	T	C	10: 25,115,583 (GRCm39)	T181A	probably benign	Het
Ap3b1	A	G	13: 94,545,305 (GRCm39)	E186G	possibly damaging	Het
Arhgap17	T	C	7: 122,885,925 (GRCm39)	T736A	probably benign	Het
Bltp3a	T	A	17: 28,113,720 (GRCm39)	D1297E	probably damaging	Het
Bmp8a	G	T	4: 123,218,378 (GRCm39)	R214S	possibly damaging	Het
Cacna1f	T	C	X: 7,486,678 (GRCm39)	S890P	probably damaging	Het
Cd96	A	T	16: 45,938,362 (GRCm39)	Y34*	probably null	Het
Cdc42ep4	A	G	11: 113,620,163 (GRCm39)	L76P	probably damaging	Het
Cdh23	A	G	10: 60,227,505 (GRCm39)	V1195A	possibly damaging	Het
Cfap57	G	A	4: 118,428,921 (GRCm39)	T1015M	possibly damaging	Het
Chrm3	C	A	13: 9,927,452 (GRCm39)	G528V	probably damaging	Het
Cimap1c	A	T	9: 56,759,027 (GRCm39)	F43I	possibly damaging	Het
Clip4	T	C	17: 72,108,937 (GRCm39)		probably benign	Het
Col9a1	A	T	1: 24,224,386 (GRCm39)	R189S	unknown	Het
Cul4b	A	T	X: 37,636,728 (GRCm39)	I481N	probably damaging	Het
Cyp26b1	A	G	6: 84,561,441 (GRCm39)	S74P	probably benign	Het
Cyp3a57	A	G	5: 145,307,820 (GRCm39)	N192S	probably benign	Het
Dcbld1	A	G	10: 52,195,572 (GRCm39)	D260G	probably damaging	Het
Dhrs7	T	C	12: 72,699,939 (GRCm39)	N231S	probably benign	Het
Disp3	G	A	4: 148,325,975 (GRCm39)	P1261L	probably damaging	Het
Dnaaf4	T	C	9: 72,867,966 (GRCm39)	Y76H	possibly damaging	Het
Eml5	C	A	12: 98,853,315 (GRCm39)	V95F	probably benign	Het
Emsy	A	G	7: 98,297,087 (GRCm39)	I32T	probably damaging	Het
Esr1	A	G	10: 4,733,913 (GRCm39)	R238G	probably damaging	Het
Exosc1	T	C	19: 41,916,524 (GRCm39)	K84R	probably benign	Het
F830016B08Rik	T	A	18: 60,433,589 (GRCm39)	V224E	probably benign	Het
Fam228a	T	A	12: 4,782,748 (GRCm39)	N115I	probably damaging	Het
Farp1	T	C	14: 121,494,157 (GRCm39)	I546T	probably damaging	Het
Fbxo30	T	A	10: 11,165,531 (GRCm39)	C84*	probably null	Het
Fbxw17	A	G	13: 50,579,810 (GRCm39)		probably benign	Het
Foxo4	G	C	X: 100,302,069 (GRCm39)	R192P	probably benign	Het
Galnt7	G	T	8: 57,995,564 (GRCm39)	T377K	probably benign	Het
Garnl3	T	C	2: 32,924,139 (GRCm39)	I248V	probably benign	Het
Glod4	A	G	11: 76,128,534 (GRCm39)	Y104H	probably damaging	Het
Glrb	T	C	3: 80,767,482 (GRCm39)	Y246C	probably damaging	Het
Gm5292	A	G	5: 44,101,752 (GRCm39)		noncoding transcript	Het
Gm5424	C	A	10: 61,908,086 (GRCm39)		noncoding transcript	Het
Gm7276	C	T	18: 77,273,431 (GRCm39)		probably benign	Het
Golga5	A	G	12: 102,458,390 (GRCm39)	N611S	possibly damaging	Het
Gucy2c	A	C	6: 136,721,025 (GRCm39)	Y391D	probably damaging	Het
H6pd	A	G	4: 150,066,130 (GRCm39)	I760T	probably damaging	Het
Hapln2	T	A	3: 87,931,712 (GRCm39)	I5F	possibly damaging	Het
Hdac11	G	T	6: 91,145,806 (GRCm39)	V169L	probably benign	Het
Hectd2	T	C	19: 36,586,816 (GRCm39)	V557A	possibly damaging	Het
Huwe1	T	A	X: 150,647,749 (GRCm39)	N747K	probably benign	Het
Ints1	A	G	5: 139,760,277 (GRCm39)	S66P	probably benign	Het
Ipo7	A	G	7: 109,626,339 (GRCm39)	D49G	probably damaging	Het
Itgb4	G	A	11: 115,879,346 (GRCm39)	C575Y	probably damaging	Het
Klhl3	A	G	13: 58,181,044 (GRCm39)	V250A	possibly damaging	Het
Klk1b24	A	G	7: 43,839,852 (GRCm39)		probably null	Het
Map3k11	T	A	19: 5,745,600 (GRCm39)	Y333*	probably null	Het
Mbp	A	G	18: 82,572,474 (GRCm39)	T57A	probably benign	Het
Myh9	A	G	15: 77,657,464 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,961,472 (GRCm39)	R1040Q	probably damaging	Het
Ncdn	A	G	4: 126,645,732 (GRCm39)		probably null	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or10ab5	T	A	7: 108,245,571 (GRCm39)	T71S	probably benign	Het
Or11h4	AGGGATTGGG	AGGGATTGGGATTGGG	14: 50,974,144 (GRCm39)		probably benign	Het
Or4k15c	A	G	14: 50,321,499 (GRCm39)	F213S	probably benign	Het
Or51b6b	T	C	7: 103,310,005 (GRCm39)		probably null	Het
Or51f1	G	A	7: 102,505,569 (GRCm39)	Q307*	probably null	Het
Or8d2	T	A	9: 38,759,901 (GRCm39)	S164T	possibly damaging	Het
Pbx3	T	C	2: 34,114,464 (GRCm39)	T82A	possibly damaging	Het
Pi15	T	C	1: 17,672,945 (GRCm39)	F48S	probably benign	Het
Pkhd1	A	G	1: 20,655,376 (GRCm39)		probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Prrc2c	G	T	1: 162,532,551 (GRCm39)		probably benign	Het
Prune1	A	G	3: 95,175,553 (GRCm39)	Y41H	possibly damaging	Het
Rcsd1	T	C	1: 165,483,541 (GRCm39)	D150G	probably damaging	Het
Rgs12	A	T	5: 35,123,456 (GRCm39)	Q413L	possibly damaging	Het
Rhox2h	A	G	X: 36,850,848 (GRCm39)	Y185H	probably damaging	Het
Rnf17	T	A	14: 56,741,464 (GRCm39)	C1306*	probably null	Het
Ros1	T	A	10: 51,976,183 (GRCm39)	M1499L	probably benign	Het
Rubcnl	T	C	14: 75,284,989 (GRCm39)	S503P	probably damaging	Het
Sap18b	A	T	8: 96,552,342 (GRCm39)	R117S	probably benign	Het
Shank2	A	G	7: 143,964,336 (GRCm39)	E858G	probably damaging	Het
Shtn1	T	C	19: 59,020,632 (GRCm39)	R197G	probably damaging	Het
Slamf8	G	A	1: 172,412,087 (GRCm39)	R163*	probably null	Het
Slc6a3	T	C	13: 73,714,411 (GRCm39)	I392T	possibly damaging	Het
Sp8	T	C	12: 118,812,751 (GRCm39)	V202A	possibly damaging	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Stpg2	A	T	3: 139,023,162 (GRCm39)	T393S	probably benign	Het
Tagap	T	C	17: 8,150,299 (GRCm39)	M228T	probably damaging	Het
Tagap	A	G	17: 8,152,377 (GRCm39)	T521A	probably benign	Het
Tas2r123	T	G	6: 132,824,528 (GRCm39)	S142A	probably damaging	Het
Tat	T	A	8: 110,718,261 (GRCm39)	S49T	probably benign	Het
Tfap4	G	T	16: 4,369,933 (GRCm39)	Q41K	possibly damaging	Het
Thbs2	T	C	17: 14,906,075 (GRCm39)	N275S	probably benign	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tnrc6a	T	C	7: 122,792,140 (GRCm39)	V1886A	possibly damaging	Het
Trim56	G	A	5: 137,143,252 (GRCm39)	A88V	probably damaging	Het
Trio	A	G	15: 27,841,842 (GRCm39)	Y1081H	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ube2o	G	A	11: 116,432,320 (GRCm39)	T882I	probably benign	Het
Upk3a	A	G	15: 84,904,815 (GRCm39)	T188A	possibly damaging	Het
Vmn1r79	A	C	7: 11,910,358 (GRCm39)	D80A	probably damaging	Het
Wls	C	A	3: 159,617,450 (GRCm39)	T375K	probably benign	Het
Wnt5a	T	C	14: 28,233,835 (GRCm39)	M1T	probably null	Het
Zcchc4	A	G	5: 52,953,932 (GRCm39)	E204G	probably damaging	Het
Zfp513	G	A	5: 31,357,678 (GRCm39)	P232S	possibly 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
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
R4839:Sp140	UTSW	1	85,538,529 (GRCm39)	unclassified	probably benign
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'- ACAGGAAGGTCATGTGTCACC -3'
(R):5'- TGGGTTCTCACTGAGCCATC -3'

Sequencing Primer
(F):5'- CTACCTTGGGCTTGAGTAAATTC -3'
(R):5'- GGTTCTCACTGAGCCATCCCTAAC -3'

Posted On

2014-11-26