Mutagenetix > Incidental Mutation

Incidental Mutation 'R7128:Sp140'

552430

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: 0.133) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85528099-85572758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85547846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 191 (D191V)

Ref Sequence

ENSEMBL: ENSMUSP00000079095 (fasta)

Gene Model

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

AlphaFold

Q6NSQ5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080204
AA Change: D191V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031
AA Change: D191V

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

SMART Domains

Protein: ENSMUSP00000123756
Gene: ENSMUSG00000070031
AA Change: D94V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,347,985 (GRCm39)	D25G	probably benign	Het
Ak9	T	C	10: 41,300,713 (GRCm39)	V1641A	unknown	Het
Akirin2	T	C	4: 34,562,435 (GRCm39)	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,540,361 (GRCm39)	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,326,971 (GRCm39)	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,553,063 (GRCm39)	R93*	probably null	Het
Brd10	T	C	19: 29,693,881 (GRCm39)	T1871A	possibly damaging	Het
Catsper3	A	G	13: 55,946,662 (GRCm39)	I120V	probably benign	Het
Cavin2	A	G	1: 51,328,579 (GRCm39)	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,417,188 (GRCm39)	F39Y	probably damaging	Het
Chfr	T	C	5: 110,291,502 (GRCm39)	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Defb4	T	A	8: 19,251,220 (GRCm39)	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,566,645 (GRCm39)	T619A	probably benign	Het
Duxf1	T	C	10: 58,059,479 (GRCm39)	Q425R	unknown	Het
Emc3	A	G	6: 113,494,881 (GRCm39)	L179P	probably damaging	Het
Eno3	G	C	11: 70,549,430 (GRCm39)	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,812,642 (GRCm39)	V43M	probably damaging	Het
Fbxo30	T	A	10: 11,165,860 (GRCm39)	L194*	probably null	Het
Galnt14	T	C	17: 73,852,096 (GRCm39)	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601 (GRCm39)	I51T	probably benign	Het
Gm1527	C	T	3: 28,969,460 (GRCm39)	S270F	possibly damaging	Het
Gm3336	A	G	8: 71,171,203 (GRCm39)	M1V	probably null	Het
Gm4744	T	C	6: 40,927,310 (GRCm39)	D15G		Het
Gm4924	G	A	10: 82,214,533 (GRCm39)	C777Y	unknown	Het
Gm5901	G	A	7: 105,027,408 (GRCm39)	G306S	probably damaging	Het
Gon4l	T	A	3: 88,802,999 (GRCm39)	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,138,026 (GRCm39)	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,236,326 (GRCm39)	E1285G	probably benign	Het
Irx6	T	C	8: 93,403,994 (GRCm39)	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,322,089 (GRCm39)	Y117H	probably benign	Het
Itln1	C	A	1: 171,358,143 (GRCm39)	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,975,972 (GRCm39)	S242P	probably benign	Het
Lrrk2	A	G	15: 91,686,088 (GRCm39)	H2143R	probably benign	Het
Lynx1	G	A	15: 74,623,398 (GRCm39)	R50*	probably null	Het
Lypd11	C	T	7: 24,425,424 (GRCm39)		probably null	Het
Map10	A	G	8: 126,398,592 (GRCm39)	I662V	probably benign	Het
Mlxipl	T	C	5: 135,162,705 (GRCm39)	L691P	probably damaging	Het
Muc16	A	G	9: 18,554,300 (GRCm39)	S3998P	unknown	Het
Nalcn	A	T	14: 123,831,914 (GRCm39)	V120E	probably damaging	Het
Nfat5	T	C	8: 108,085,323 (GRCm39)	S539P	probably benign	Het
Olfml3	T	C	3: 103,644,484 (GRCm39)	M62V	probably benign	Het
Orm3	T	C	4: 63,276,062 (GRCm39)	V158A	probably benign	Het
Pakap	T	C	4: 57,855,816 (GRCm39)	S382P	probably benign	Het
Pced1b	A	T	15: 97,282,479 (GRCm39)	K173*	probably null	Het
Pdzd7	T	C	19: 45,016,388 (GRCm39)	D911G	probably damaging	Het
Pkn3	A	G	2: 29,973,327 (GRCm39)	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,725,292 (GRCm39)	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,719,842 (GRCm39)	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,515,364 (GRCm39)	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,661,911 (GRCm39)	N30S	probably benign	Het
Shisal2a	G	T	4: 108,225,100 (GRCm39)	T154K	probably benign	Het
Slfn3	T	A	11: 83,105,721 (GRCm39)	C573S	probably benign	Het
Smc6	A	G	12: 11,351,632 (GRCm39)	E887G	probably damaging	Het
Srf	C	T	17: 46,866,372 (GRCm39)	S128N	possibly damaging	Het
Sult6b1	T	C	17: 79,202,070 (GRCm39)	D144G	probably damaging	Het
Syne1	G	A	10: 5,193,180 (GRCm39)	A3956V	probably damaging	Het
Syt10	A	T	15: 89,698,314 (GRCm39)	D343E	probably damaging	Het
Tgtp2	G	A	11: 48,950,135 (GRCm39)	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,266,496 (GRCm39)		probably benign	Het
Tnfrsf1a	A	T	6: 125,338,499 (GRCm39)	T337S	probably benign	Het
Tns1	A	T	1: 74,034,463 (GRCm39)	I144N		Het
Trim11	A	G	11: 58,869,103 (GRCm39)	E13G	probably damaging	Het
Trpm6	A	T	19: 18,789,137 (GRCm39)	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,576,569 (GRCm39)	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,820,936 (GRCm39)	N169K	probably damaging	Het
Vmn2r60	C	T	7: 41,844,536 (GRCm39)	T633I	probably damaging	Het
Wt1	T	C	2: 104,957,670 (GRCm39)	Y177H	probably benign	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
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
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'- ATTTACAGGAAGGTCATGTGTCAC -3'
(R):5'- TTTCTCCAGCTCCCAACAAG -3'

Sequencing Primer
(F):5'- CCTGGAAAATTAGGTGACACCCTG -3'
(R):5'- TTTCTCCAGCTCCCAACAAGAAAATG -3'

Posted On

2019-05-15