Mutagenetix > Incidental Mutations

Incidental Mutation 'R5635:Sp100'

448620

Institutional Source

Beutler Lab

Gene Symbol

Sp100

Ensembl Gene

ENSMUSG00000026222

Gene Name

nuclear antigen Sp100

Synonyms

MMRRC Submission

043286-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R5635 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

85649988-85709998 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 85682264 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118481 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000054279
AA Change: Q346K

SMART Domains

Protein: ENSMUSP00000051705
Gene: ENSMUSG00000026222
AA Change: Q346K

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

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: 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

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 benign
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

0.0802

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,218,277	M53K	possibly damaging	Het
Aldh3b3	C	T	19: 3,968,512	T409I	probably benign	Het
Ankrd13a	C	A	5: 114,801,717	H468Q	possibly damaging	Het
Ap2a1	A	C	7: 44,923,901		probably benign	Het
Arfgef1	A	T	1: 10,188,860	S671T	possibly damaging	Het
C1ra	G	A	6: 124,516,724	C145Y	probably damaging	Het
Catsperd	G	A	17: 56,632,335	V55M	possibly damaging	Het
Ccdc30	T	C	4: 119,359,674	N123D	possibly damaging	Het
Cdc20	A	T	4: 118,436,027	V232E	possibly damaging	Het
Cfap58	T	A	19: 47,983,542	V637E	possibly damaging	Het
Coq4	T	A	2: 29,788,355	V24E	possibly damaging	Het
Crim1	T	A	17: 78,315,641	F423I	probably damaging	Het
Crls1	T	C	2: 132,864,142	V262A	possibly damaging	Het
Crybb1	T	C	5: 112,257,559		probably null	Het
Cutc	T	A	19: 43,755,630	N23K	probably benign	Het
Cxcl10	T	A	5: 92,347,839	I82F	probably damaging	Het
Cyp3a44	A	T	5: 145,801,314	F60L	possibly damaging	Het
Dhx9	A	G	1: 153,483,747	M35T	probably benign	Het
Dnah8	A	G	17: 30,706,386	E1265G	probably benign	Het
Dzank1	C	G	2: 144,483,407	D548H	probably damaging	Het
Eef2kmt	A	G	16: 5,249,029	V120A	probably damaging	Het
Elp4	A	G	2: 105,814,264		probably null	Het
Etl4	A	T	2: 20,807,035	I1310F	probably damaging	Het
Exoc6b	A	T	6: 84,851,927	F492I	probably damaging	Het
F2rl2	A	T	13: 95,700,782	I112F	possibly damaging	Het
Farp1	T	A	14: 121,276,304	I837N	possibly damaging	Het
Fars2	A	G	13: 36,410,146	E378G	probably damaging	Het
Fgg	A	G	3: 83,011,423	T248A	probably benign	Het
Flrt3	T	A	2: 140,660,500	T403S	probably damaging	Het
Fndc3b	C	T	3: 27,541,931	E170K	probably damaging	Het
Gm17728	A	G	17: 9,422,370	H104R	probably benign	Het
Hist2h2ab	C	A	3: 96,220,277	T121K	possibly damaging	Het
Hivep1	A	G	13: 42,160,127	T1948A	probably benign	Het
Hspa4l	T	A	3: 40,745,745	I23N	probably damaging	Het
Ighv1-75	A	G	12: 115,834,209	V31A	probably benign	Het
Kalrn	T	A	16: 34,014,084	N627I	probably damaging	Het
Lrp1b	T	G	2: 42,652,822		probably benign	Het
Lrrc36	G	A	8: 105,457,573	V480M	probably damaging	Het
Map4k3	A	T	17: 80,613,495	N534K	possibly damaging	Het
Mybpc3	C	T	2: 91,134,829	T1081I	probably benign	Het
Nfrkb	T	C	9: 31,399,298	S351P	probably damaging	Het
Nme4	A	T	17: 26,094,231	V43E	probably damaging	Het
Notch1	C	T	2: 26,476,161	E794K	probably damaging	Het
Nufip1	A	T	14: 76,126,146	K270M	probably damaging	Het
Olfr1093	A	G	2: 86,785,726		probably null	Het
Olfr1330	G	T	4: 118,893,635	G184V	probably benign	Het
Olfr390	G	T	11: 73,787,634	R232L	probably benign	Het
Olfr65	G	A	7: 103,906,638	M66I	probably benign	Het
Olfr919	A	G	9: 38,698,159	I73T	possibly damaging	Het
Pcdhb15	T	A	18: 37,473,770	Y18*	probably null	Het
Pcdhb21	A	T	18: 37,513,917	Y33F	probably benign	Het
Pds5b	T	A	5: 150,778,221	H772Q	possibly damaging	Het
Pik3r4	C	A	9: 105,667,825	H168N	probably benign	Het
Pitpnm3	A	G	11: 72,067,160	S386P	possibly damaging	Het
Plg	A	G	17: 12,395,754	H307R	probably damaging	Het
Prdm9	A	C	17: 15,562,440	D96E	probably damaging	Het
Prmt8	A	G	6: 127,768,729	S7P	probably damaging	Het
Prune2	T	C	19: 17,118,209	V359A	probably benign	Het
Pxn	A	T	5: 115,551,492	Q279L	probably benign	Het
Rarb	A	T	14: 16,443,788	C167S	probably damaging	Het
Rps6kb2	T	A	19: 4,161,134	I131F	probably damaging	Het
Sec14l3	T	A	11: 4,071,484	V219E	probably damaging	Het
Simc1	A	G	13: 54,525,404	T522A	probably benign	Het
Slc1a6	T	C	10: 78,789,091	V110A	possibly damaging	Het
Slc38a11	T	G	2: 65,361,403		probably null	Het
Snx13	T	A	12: 35,140,171	D840E	probably benign	Het
Spc24	G	T	9: 21,757,390	L104I	probably damaging	Het
Surf4	T	C	2: 26,933,313	N4D	probably benign	Het
Tas2r131	A	T	6: 132,957,608	D79E	probably benign	Het
Tbc1d20	T	C	2: 152,311,461	S304P	probably benign	Het
Tbrg1	T	C	9: 37,654,991		probably benign	Het
Tmem214	A	G	5: 30,871,517	N150S	probably damaging	Het
Trappc13	A	T	13: 104,150,098	I217K	probably benign	Het
Ttc41	T	A	10: 86,736,977	C738S	probably benign	Het
Ttn	T	C	2: 76,709,724	Q25979R	probably benign	Het
Tubb2b	A	T	13: 34,128,197	N204K	probably damaging	Het
Ube3a	T	A	7: 59,288,488	M713K	probably damaging	Het
Usp37	T	C	1: 74,495,811		probably benign	Het
Vegfb	T	A	19: 6,982,846	*189C	probably null	Het
Vmn2r82	A	G	10: 79,378,818	N212D	probably benign	Het
Vta1	A	T	10: 14,668,122		probably null	Het
Wdr66	A	T	5: 123,322,572	Q225L	probably benign	Het
Xdh	T	G	17: 73,913,875	I620L	possibly damaging	Het
Xpnpep3	A	G	15: 81,436,769	Y283C	probably benign	Het
Zscan18	A	G	7: 12,770,864	S609P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAACTTTACAGATGGAGCCATTTC -3'
(R):5'- TTCCATATCAGCAGTACATAAGCAC -3'

Sequencing Primer
(F):5'- GAGCCATTTCTCCAGCCC -3'
(R):5'- ACAAATGTTCATAGTCACTTCCTGC -3'

Posted On

2016-12-15