Mutagenetix > Incidental Mutations

Incidental Mutation 'R3933:Sp100'

308537

Institutional Source

Beutler Lab

Gene Symbol

Sp100

Ensembl Gene

ENSMUSG00000026222

Gene Name

nuclear antigen Sp100

Synonyms

MMRRC Submission

040920-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.234) question?

Stock #

R3933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85649988-85709998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85681109 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 320 (I320V)

Ref Sequence

ENSEMBL: ENSMUSP00000118481 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054279
AA Change: I320V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: I320V

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 benign
Transcript: ENSMUST00000066427
AA Change: I320V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: I320V

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: ENSMUST00000129951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140758

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: 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 benign
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 benign
Transcript: ENSMUST00000153574
AA Change: I320V

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: I320V

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 benign
Transcript: ENSMUST00000155094
AA Change: I320V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: I320V

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,354,856	F3350L	probably damaging	Het
Acp6	T	C	3: 97,166,183	V146A	probably benign	Het
Ap3b2	C	T	7: 81,473,850		probably benign	Het
Arhgef33	A	G	17: 80,373,320	I630V	probably benign	Het
Astn2	G	A	4: 66,403,955	R136C	unknown	Het
Bcl2l14	A	G	6: 134,423,808	D64G	probably damaging	Het
C1rl	T	A	6: 124,508,822	L384*	probably null	Het
Ccdc130	G	A	8: 84,260,352	A172V	probably benign	Het
Ccdc6	TCCGCCGCCGCC	TCCGCCGCC	10: 70,189,170		probably benign	Het
Coch	T	C	12: 51,603,338	I370T	probably damaging	Het
Ercc5	T	A	1: 44,167,856	M643K	probably benign	Het
Fut8	A	C	12: 77,475,259	K557N	probably damaging	Het
Hsdl2	T	C	4: 59,597,274	Y88H	probably damaging	Het
Hspg2	T	C	4: 137,515,568	V670A	probably damaging	Het
Itga8	A	G	2: 12,189,519	I690T	probably benign	Het
Lepr	T	C	4: 101,765,301		probably benign	Het
Matn2	T	C	15: 34,345,420		probably null	Het
Mei1	A	G	15: 82,083,152	K310E	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msl3	C	T	X: 168,671,817	A87T	probably damaging	Het
Ogdh	T	C	11: 6,342,601	V438A	possibly damaging	Het
Olfr1109	T	A	2: 87,092,762	I212F	probably benign	Het
Olfr1293-ps	T	C	2: 111,527,955	Y232H	probably damaging	Het
Opa1	A	T	16: 29,610,880	E401D	probably damaging	Het
Parp2	G	A	14: 50,819,387	V323M	probably benign	Het
Pip5k1a	A	G	3: 95,072,003	S161P	probably benign	Het
Pold3	T	C	7: 100,121,401	E8G	probably damaging	Het
Pomt1	G	A	2: 32,245,619	V332I	probably benign	Het
Ppp2ca	T	A	11: 52,119,262	N232K	probably damaging	Het
Prune2	A	T	19: 17,123,954	D2274V	probably damaging	Het
Pwwp2b	G	A	7: 139,256,034	V464I	possibly damaging	Het
Rgs7bp	T	C	13: 105,052,998	M98V	probably benign	Het
Rubcn	A	G	16: 32,829,259		probably null	Het
Scai	A	T	2: 39,075,052	D593E	probably benign	Het
Slc24a2	T	C	4: 87,176,185	T366A	probably benign	Het
Syngr2	C	A	11: 117,813,417	P206Q	probably damaging	Het
Tatdn3	A	T	1: 191,046,324		probably null	Het
Thsd7a	C	T	6: 12,555,226	G220S	probably benign	Het
Tmem28	G	A	X: 99,821,864	V266M	possibly damaging	Het
Vmn2r10	C	A	5: 109,002,222	A319S	possibly damaging	Het
Vmn2r11	C	T	5: 109,053,394	A415T	probably damaging	Het
Vmn2r88	A	G	14: 51,413,978	M258V	probably benign	Het
Wiz	G	A	17: 32,357,898	R561C	probably damaging	Het
Zfp422	T	C	6: 116,626,459	K193R	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
R0620:Sp100	UTSW	1	85659867	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TATGCCAGACCCATCAGTCC -3'
(R):5'- TTAAGACCTCAGGGCCCTAG -3'

Sequencing Primer
(F):5'- CAGTCCCTACATATTGAATTCGTGGG -3'
(R):5'- GCCCTAGACGATCATGTGGAAC -3'

Posted On

2015-04-17