Mutagenetix > Incidental Mutations

Incidental Mutation 'R7128:Sp140'

552430

Institutional Source

Beutler Lab

Gene Symbol

Sp140

Ensembl Gene

ENSMUSG00000070031

Gene Name

Sp140 nuclear body protein

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85600378-85645037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85620125 bp (GRCm38)

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
9930021J03Rik	T	C	19: 29,716,481	T1871A	possibly damaging	Het
Adgb	T	C	10: 10,472,241	D25G	probably benign	Het
Ak9	T	C	10: 41,424,717	V1641A	unknown	Het
Akap2	T	C	4: 57,855,816	S382P	probably benign	Het
Akirin2	T	C	4: 34,562,435	I118T	probably benign	Het
Aldh1l1	G	T	6: 90,563,379	Q215H	probably benign	Het
Arhgef26	T	C	3: 62,419,550	F495L	possibly damaging	Het
Atg4a-ps	T	A	3: 103,645,747	R93*	probably null	Het
AW822073	T	C	10: 58,223,657	Q425R	unknown	Het
Catsper3	A	G	13: 55,798,849	I120V	probably benign	Het
Cavin2	A	G	1: 51,289,420	Q12R	possibly damaging	Het
Cenpf	A	T	1: 189,684,991	F39Y	probably damaging	Het
Chfr	T	C	5: 110,143,636	Y107H	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Defb4	T	A	8: 19,201,204	I29K	possibly damaging	Het
Dnah7c	A	G	1: 46,527,485	T619A	probably benign	Het
Emc3	A	G	6: 113,517,920	L179P	probably damaging	Het
Eno3	G	C	11: 70,658,604	V84L	possibly damaging	Het
Fam110a	C	T	2: 151,970,722	V43M	probably damaging	Het
Fam159a	G	T	4: 108,367,903	T154K	probably benign	Het
Fbxo30	T	A	10: 11,290,116	L194*	probably null	Het
Galnt14	T	C	17: 73,545,101	T108A	probably benign	Het
Glipr2	T	C	4: 43,968,601	I51T	probably benign	Het
Gm1527	C	T	3: 28,915,311	S270F	possibly damaging	Het
Gm3336	A	G	8: 70,718,554	M1V	probably null	Het
Gm4744	T	C	6: 40,950,376	D15G		Het
Gm4763	C	T	7: 24,725,999		probably null	Het
Gm4924	G	A	10: 82,378,699	C777Y	unknown	Het
Gm5901	G	A	7: 105,378,201	G306S	probably damaging	Het
Gon4l	T	A	3: 88,895,692	N1203K	possibly damaging	Het
Gpr161	A	T	1: 165,310,457	Y204F	possibly damaging	Het
Igsf10	T	C	3: 59,328,905	E1285G	probably benign	Het
Irx6	T	C	8: 92,677,366	L187P	probably damaging	Het
Itgb1bp1	A	G	12: 21,272,088	Y117H	probably benign	Het
Itln1	C	A	1: 171,530,575	D202Y	possibly damaging	Het
Kctd9	T	C	14: 67,738,523	S242P	probably benign	Het
Lrrk2	A	G	15: 91,801,885	H2143R	probably benign	Het
Lynx1	G	A	15: 74,751,549	R50*	probably null	Het
Map10	A	G	8: 125,671,853	I662V	probably benign	Het
Mlxipl	T	C	5: 135,133,851	L691P	probably damaging	Het
Muc16	A	G	9: 18,643,004	S3998P	unknown	Het
Nalcn	A	T	14: 123,594,502	V120E	probably damaging	Het
Nfat5	T	C	8: 107,358,691	S539P	probably benign	Het
Olfml3	T	C	3: 103,737,168	M62V	probably benign	Het
Orm3	T	C	4: 63,357,825	V158A	probably benign	Het
Pced1b	A	T	15: 97,384,598	K173*	probably null	Het
Pdzd7	T	C	19: 45,027,949	D911G	probably damaging	Het
Pkn3	A	G	2: 30,083,315	D383G	probably damaging	Het
Pm20d1	A	G	1: 131,797,554	E46G	probably benign	Het
Pyroxd2	A	T	19: 42,731,403	S455T	probably benign	Het
Rmnd5b	T	A	11: 51,624,537	I301F	possibly damaging	Het
Rnf225	A	G	7: 12,927,984	N30S	probably benign	Het
Slfn3	T	A	11: 83,214,895	C573S	probably benign	Het
Smc6	A	G	12: 11,301,631	E887G	probably damaging	Het
Srf	C	T	17: 46,555,446	S128N	possibly damaging	Het
Sult6b1	T	C	17: 78,894,641	D144G	probably damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Syt10	A	T	15: 89,814,111	D343E	probably damaging	Het
Tgtp2	G	A	11: 49,059,308	R146C	possibly damaging	Het
Tmcc3	A	T	10: 94,430,634		probably benign	Het
Tnfrsf1a	A	T	6: 125,361,536	T337S	probably benign	Het
Tns1	A	T	1: 73,995,304	I144N		Het
Trim11	A	G	11: 58,978,277	E13G	probably damaging	Het
Trpm6	A	T	19: 18,811,773	H569L	possibly damaging	Het
Ttbk2	T	A	2: 120,746,088	I803L	probably benign	Het
Vmn1r21	G	T	6: 57,843,951	N169K	probably damaging	Het
Vmn2r60	C	T	7: 42,195,112	T633I	probably damaging	Het
Wt1	T	C	2: 105,127,325	Y177H	probably benign	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
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
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
Z1191:Sp140	UTSW	1	85641803	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