Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Sp100'

58571

Institutional Source

Beutler Lab

Gene Symbol

Sp100

Ensembl Gene

ENSMUSG00000026222

Gene Name

nuclear antigen Sp100

Synonyms

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R0620 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

85649988-85709998 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 85659867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054279] [ENSMUST00000054279] [ENSMUST00000054279] [ENSMUST00000054279] [ENSMUST00000066427] [ENSMUST00000066427] [ENSMUST00000145440] [ENSMUST00000145440] [ENSMUST00000147552] [ENSMUST00000147552] [ENSMUST00000147552] [ENSMUST00000147552] [ENSMUST00000150967] [ENSMUST00000150967] [ENSMUST00000150967] [ENSMUST00000150967] [ENSMUST00000153574] [ENSMUST00000153574] [ENSMUST00000153574] [ENSMUST00000153574] [ENSMUST00000155094] [ENSMUST00000155094]

AlphaFold

O35892

Predicted Effect

probably null
Transcript: ENSMUST00000054279

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	4.9e-47	PFAM
low complexity region	334	345	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000054279

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	4.9e-47	PFAM
low complexity region	334	345	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000054279

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	4.9e-47	PFAM
low complexity region	334	345	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000054279

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	4.9e-47	PFAM
low complexity region	334	345	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000066427

SMART Domains

Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	21	119	3.4e-40	PFAM
low complexity region	320	335	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
SAND	386	459	8.85e-38	SMART
BROMO	473	573	1.16e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000066427

SMART Domains

Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	21	119	3.4e-40	PFAM
low complexity region	320	335	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
SAND	386	459	8.85e-38	SMART
BROMO	473	573	1.16e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141998

Predicted Effect

probably benign
Transcript: ENSMUST00000145440

SMART Domains

Protein: ENSMUSP00000120604
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	3.7e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145440

SMART Domains

Protein: ENSMUSP00000120604
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	3.7e-47	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000147552

SMART Domains

Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.5e-46	PFAM
low complexity region	305	319	N/A	INTRINSIC
low complexity region	349	359	N/A	INTRINSIC
SAND	368	441	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000147552

SMART Domains

Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.5e-46	PFAM
low complexity region	305	319	N/A	INTRINSIC
low complexity region	349	359	N/A	INTRINSIC
SAND	368	441	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000147552

SMART Domains

Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.5e-46	PFAM
low complexity region	305	319	N/A	INTRINSIC
low complexity region	349	359	N/A	INTRINSIC
SAND	368	441	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000147552

SMART Domains

Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.5e-46	PFAM
low complexity region	305	319	N/A	INTRINSIC
low complexity region	349	359	N/A	INTRINSIC
SAND	368	441	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150967

SMART Domains

Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.1e-46	PFAM
low complexity region	324	334	N/A	INTRINSIC
SAND	343	416	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150967

SMART Domains

Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.1e-46	PFAM
low complexity region	324	334	N/A	INTRINSIC
SAND	343	416	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150967

SMART Domains

Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.1e-46	PFAM
low complexity region	324	334	N/A	INTRINSIC
SAND	343	416	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150967

SMART Domains

Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	2.1e-46	PFAM
low complexity region	324	334	N/A	INTRINSIC
SAND	343	416	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000153574

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	9.2e-47	PFAM
low complexity region	342	352	N/A	INTRINSIC
SAND	361	434	8.85e-38	SMART
Blast:BROMO	453	476	9e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000153574

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	9.2e-47	PFAM
low complexity region	342	352	N/A	INTRINSIC
SAND	361	434	8.85e-38	SMART
Blast:BROMO	453	476	9e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000153574

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	9.2e-47	PFAM
low complexity region	342	352	N/A	INTRINSIC
SAND	361	434	8.85e-38	SMART
Blast:BROMO	453	476	9e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000153574

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	9.2e-47	PFAM
low complexity region	342	352	N/A	INTRINSIC
SAND	361	434	8.85e-38	SMART
Blast:BROMO	453	476	9e-6	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000155094

SMART Domains

Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	1.6e-46	PFAM
low complexity region	320	335	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
SAND	386	459	8.85e-38	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000155094

SMART Domains

Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
Pfam:Sp100	19	122	1.6e-46	PFAM
low complexity region	320	335	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
SAND	386	459	8.85e-38	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Miga2	T	A	2: 30,381,744		probably benign	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,846,821	M184L	probably benign	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Osbpl9	T	C	4: 109,083,128	E287G	probably damaging	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Phtf1	A	G	3: 103,993,765	T377A	probably damaging	Het
Pkp4	G	A	2: 59,322,643	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Stil	A	T	4: 115,007,159	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Sp100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Sp100	APN	1	85670020	missense	possibly damaging	0.48
IGL01998:Sp100	APN	1	85666929	missense	probably benign	0.01
IGL02192:Sp100	APN	1	85708001	missense	probably damaging	0.99
IGL02809:Sp100	APN	1	85681124	missense	probably damaging	0.99
IGL03274:Sp100	APN	1	85707304	intron	probably benign
PIT4458001:Sp100	UTSW	1	85708116	missense	probably benign	0.10
R0115:Sp100	UTSW	1	85650131	splice site	probably benign
R0599:Sp100	UTSW	1	85681110	missense	possibly damaging	0.68
R0693:Sp100	UTSW	1	85667005	critical splice donor site	probably null
R0709:Sp100	UTSW	1	85694281	missense	probably damaging	0.96
R0744:Sp100	UTSW	1	85699744	missense	probably damaging	0.97
R0836:Sp100	UTSW	1	85699744	missense	probably damaging	0.97
R1175:Sp100	UTSW	1	85701420	missense	possibly damaging	0.83
R1496:Sp100	UTSW	1	85663521	splice site	probably benign
R1749:Sp100	UTSW	1	85699636	missense	possibly damaging	0.95
R2046:Sp100	UTSW	1	85709065	missense	possibly damaging	0.53
R2069:Sp100	UTSW	1	85681142	splice site	probably null
R2441:Sp100	UTSW	1	85703489	unclassified	probably benign
R3933:Sp100	UTSW	1	85681109	missense	probably benign	0.29
R4171:Sp100	UTSW	1	85706841	missense	probably benign	0.00
R4762:Sp100	UTSW	1	85701458	makesense	probably null
R4863:Sp100	UTSW	1	85705003	missense	probably benign	0.03
R5156:Sp100	UTSW	1	85673683	missense	probably damaging	1.00
R5273:Sp100	UTSW	1	85709104	missense	possibly damaging	0.86
R5635:Sp100	UTSW	1	85682264	intron	probably benign
R5810:Sp100	UTSW	1	85665285	missense	probably benign	0.12
R5910:Sp100	UTSW	1	85681140	critical splice donor site	probably null
R5931:Sp100	UTSW	1	85679083	missense	probably damaging	1.00
R7466:Sp100	UTSW	1	85707239	missense	possibly damaging	0.93
R7514:Sp100	UTSW	1	85681139	nonsense	probably null
R7647:Sp100	UTSW	1	85692043	missense	possibly damaging	0.91
R7851:Sp100	UTSW	1	85706926	missense	probably benign	0.12
R7908:Sp100	UTSW	1	85708067	missense	possibly damaging	0.51
R8064:Sp100	UTSW	1	85681139	nonsense	probably null
R8094:Sp100	UTSW	1	85697098	missense	possibly damaging	0.95
R8757:Sp100	UTSW	1	85662564	missense	possibly damaging	0.92
R8785:Sp100	UTSW	1	85699751	critical splice donor site	probably benign
R9382:Sp100	UTSW	1	85699615	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCCACTGAACAGGAGAACACAGA -3'
(R):5'- TGACATGGAACACCATTCCCTCAGA -3'

Sequencing Primer
(F):5'- TGAACAGGAGAACACAGAGATGC -3'
(R):5'- acacacacacacacacacag -3'

Posted On

2013-07-11