Mutagenetix > Incidental Mutation

Incidental Mutation 'R1642:Sp140'

173578

Institutional Source

Beutler Lab

Gene Symbol

Sp140

Ensembl Gene

ENSMUSG00000070031

Gene Name

Sp140 nuclear body protein

Synonyms

MMRRC Submission

039678-MU

Accession Numbers

Essential gene?

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

Stock #

R1642 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

85528099-85572758 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 85538545 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
AA Change: R94Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000079095
Gene: ENSMUSG00000070031
AA Change: R94Q

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 null
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

0.9678

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,862,233 (GRCm39)	V19A	probably benign	Het
6820408C15Rik	T	C	2: 152,282,774 (GRCm39)	Y210H	probably damaging	Het
Aars1	T	A	8: 111,769,882 (GRCm39)	I327N	possibly damaging	Het
Abca6	T	A	11: 110,109,107 (GRCm39)	N688Y	possibly damaging	Het
Ablim3	T	C	18: 61,947,382 (GRCm39)	K457R	probably benign	Het
Acsm2	A	T	7: 119,162,860 (GRCm39)	N45Y	probably damaging	Het
Agxt2	T	C	15: 10,373,917 (GRCm39)	S108P	probably damaging	Het
Akr1cl	A	T	1: 65,060,588 (GRCm39)	M174K	probably benign	Het
Armh4	T	C	14: 50,005,867 (GRCm39)		probably null	Het
Bfsp1	G	A	2: 143,683,683 (GRCm39)	R214W	probably damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Clip2	T	C	5: 134,532,107 (GRCm39)	D566G	possibly damaging	Het
Colgalt1	A	G	8: 72,073,401 (GRCm39)	I341V	probably benign	Het
Cyp2c38	T	A	19: 39,390,153 (GRCm39)	D349V	probably damaging	Het
Cyp3a16	T	A	5: 145,406,399 (GRCm39)	I18F	unknown	Het
Degs2	C	T	12: 108,658,451 (GRCm39)	C176Y	probably benign	Het
Dhx16	A	T	17: 36,201,957 (GRCm39)	T995S	probably damaging	Het
Dicer1	A	T	12: 104,679,415 (GRCm39)	C521S	probably damaging	Het
Dop1b	T	C	16: 93,559,203 (GRCm39)	S532P	probably benign	Het
Dpysl4	T	G	7: 138,670,254 (GRCm39)	M124R	probably damaging	Het
Eml6	A	G	11: 29,727,001 (GRCm39)		probably null	Het
Erbb4	A	T	1: 68,370,393 (GRCm39)	V395D	probably damaging	Het
Esf1	T	C	2: 140,000,406 (GRCm39)	D460G	possibly damaging	Het
F830045P16Rik	G	A	2: 129,305,634 (GRCm39)	H247Y	probably benign	Het
Fsbp	T	A	4: 11,583,965 (GRCm39)	S221R	probably benign	Het
Fstl5	T	A	3: 76,317,929 (GRCm39)	N198K	possibly damaging	Het
Gemin5	G	T	11: 58,029,906 (GRCm39)	H855Q	probably damaging	Het
Gjd3	T	C	11: 98,873,535 (GRCm39)	E103G	probably benign	Het
I0C0044D17Rik	A	G	4: 98,708,471 (GRCm39)		probably benign	Het
Iqca1l	C	A	5: 24,757,686 (GRCm39)	R177L	probably damaging	Het
Itgb4	A	T	11: 115,898,183 (GRCm39)	R1646W	probably damaging	Het
Klri2	A	T	6: 129,715,837 (GRCm39)	C121S	probably benign	Het
Lamc3	A	G	2: 31,806,008 (GRCm39)	Y703C	probably damaging	Het
Lrrc10	A	G	10: 116,881,788 (GRCm39)	N154S	probably damaging	Het
Lrriq1	A	G	10: 103,050,317 (GRCm39)	F812L	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nav1	T	C	1: 135,380,010 (GRCm39)	Y1564C	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Neurl4	A	G	11: 69,794,485 (GRCm39)	M23V	probably benign	Het
Nnt	A	G	13: 119,541,086 (GRCm39)		probably null	Het
Nolc1	G	C	19: 46,067,461 (GRCm39)		probably null	Het
Nrg1	A	T	8: 32,314,536 (GRCm39)	M289K	probably benign	Het
Oas3	G	T	5: 120,915,639 (GRCm39)	H17Q	possibly damaging	Het
Or10h1	A	G	17: 33,418,430 (GRCm39)	Y132C	probably damaging	Het
Or2z2	A	G	11: 58,346,664 (GRCm39)	I37T	probably benign	Het
Or5m5	A	G	2: 85,814,201 (GRCm39)	K6E	probably benign	Het
Or8g36	C	T	9: 39,422,650 (GRCm39)	R122H	possibly damaging	Het
Parp9	T	C	16: 35,788,067 (GRCm39)	Y612H	probably benign	Het
Pcdh1	A	T	18: 38,332,283 (GRCm39)	M240K	possibly damaging	Het
Pcdhb9	A	G	18: 37,533,987 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,366,518 (GRCm39)	V42A	probably damaging	Het
Ppic	C	T	18: 53,540,134 (GRCm39)	V172M	probably damaging	Het
Ppp1r9b	A	G	11: 94,892,150 (GRCm39)		silent	Het
Prop1	A	G	11: 50,844,152 (GRCm39)	V27A	possibly damaging	Het
Psmc5	A	G	11: 106,153,242 (GRCm39)	T295A	probably benign	Het
Rpa1	A	G	11: 75,203,517 (GRCm39)		probably null	Het
Rrp12	A	G	19: 41,860,176 (GRCm39)	F1016L	probably damaging	Het
Scn2a	A	T	2: 65,514,041 (GRCm39)	I242F	probably damaging	Het
Slco1a6	T	A	6: 142,032,160 (GRCm39)	H655L	probably benign	Het
Syne1	A	G	10: 5,298,694 (GRCm39)	I1071T	possibly damaging	Het
Tbc1d9b	A	G	11: 50,040,659 (GRCm39)	D392G	probably damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Triobp	C	A	15: 78,886,348 (GRCm39)	R1830S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Znfx1	T	C	2: 166,880,930 (GRCm39)	I285V	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
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
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'- AAGCTCTTCAGACCAGCTCAGTCC -3'
(R):5'- CCTGTGCTTGGCATGACATAGTCTC -3'

Sequencing Primer
(F):5'- GCATCAGAGCTTCTTTCAGATGAG -3'
(R):5'- tgggaggcagaggcagg -3'

Posted On

2014-04-24