Mutagenetix > Incidental Mutations

Incidental Mutation 'R0744:Sp100'

70813

Institutional Source

Beutler Lab

Gene Symbol

Sp100

Ensembl Gene

ENSMUSG00000026222

Gene Name

nuclear antigen Sp100

Synonyms

MMRRC Submission

038925-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R0744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85649988-85709998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85699744 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 86 (I86L)

Ref Sequence

ENSEMBL: ENSMUSP00000120267 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066427] [ENSMUST00000132641] [ENSMUST00000145440] [ENSMUST00000147552] [ENSMUST00000150967] [ENSMUST00000153574] [ENSMUST00000155094]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066427
AA Change: I453L

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066399
Gene: ENSMUSG00000026222
AA Change: I453L

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 damaging
Transcript: ENSMUST00000132641
AA Change: I86L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120267
Gene: ENSMUSG00000026222
AA Change: I86L

Domain	Start	End	E-Value	Type
SAND	19	92	8.85e-38	SMART
low complexity region	101	114	N/A	INTRINSIC
PHD	117	159	5.97e-3	SMART
BROMO	184	284	5.49e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134283

Predicted Effect

probably benign
Transcript: ENSMUST00000141709

SMART Domains

Protein: ENSMUSP00000119301
Gene: ENSMUSG00000026222

Domain	Start	End	E-Value	Type
PHD	36	78	5.97e-3	SMART
Blast:BROMO	103	136	2e-15	BLAST

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
AA Change: I435L

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116942
Gene: ENSMUSG00000026222
AA Change: I435L

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
AA Change: I410L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122899
Gene: ENSMUSG00000026222
AA Change: I410L

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

possibly damaging
Transcript: ENSMUST00000153574
AA Change: I428L

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122670
Gene: ENSMUSG00000026222
AA Change: I428L

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: I453L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000118481
Gene: ENSMUSG00000026222
AA Change: I453L

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (91/93)

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069	L41P	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,872		noncoding transcript	Het
Abca8a	A	T	11: 110,040,564	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,777,100	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,419,271	D92G	possibly damaging	Het
Aebp2	T	G	6: 140,642,364		probably null	Het
AI987944	T	C	7: 41,376,859	Y6C	probably damaging	Het
Ascc3	T	C	10: 50,845,666	W2072R	probably benign	Het
Asxl3	A	G	18: 22,516,040	D362G	probably damaging	Het
Baiap2l1	T	A	5: 144,266,641	D479V	probably benign	Het
Bdp1	A	T	13: 100,035,825	H2094Q	probably benign	Het
Bptf	C	A	11: 107,110,812		probably null	Het
Camk4	G	T	18: 32,939,454	S20I	unknown	Het
Ccdc36	A	T	9: 108,404,801	C563S	probably benign	Het
Ccdc85a	T	A	11: 28,583,296	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394	M336K	probably benign	Het
Cd209e	G	T	8: 3,853,205	D62E	probably benign	Het
Cd226	A	C	18: 89,207,020		probably benign	Het
Clip1	T	C	5: 123,630,721	D605G	probably benign	Het
Crtc1	A	G	8: 70,393,013	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580		probably benign	Het
Dmxl1	T	C	18: 49,833,148	V20A	probably damaging	Het
Dzip3	A	G	16: 48,959,675	Y301H	probably damaging	Het
Ephb4	T	A	5: 137,365,667	N600K	probably damaging	Het
Erich6	T	A	3: 58,636,122		probably benign	Het
Fbn1	T	C	2: 125,314,814		probably benign	Het
Fryl	A	T	5: 73,089,081		probably benign	Het
Galnt17	T	A	5: 131,150,916	D131V	probably damaging	Het
Gm13089	A	T	4: 143,698,486	M129K	probably benign	Het
Gm597	A	G	1: 28,777,821	S377P	possibly damaging	Het
Gm6619	T	A	6: 131,490,334	L54Q	probably damaging	Het
Herc2	T	C	7: 56,206,036		probably benign	Het
Hic1	T	A	11: 75,165,801	Q754L	possibly damaging	Het
Hnf4g	A	T	3: 3,651,629	D286V	possibly damaging	Het
Itgb5	A	G	16: 33,900,583	K339R	probably damaging	Het
Itih1	A	T	14: 30,941,555	V164E	probably damaging	Het
Jak3	A	C	8: 71,683,978	N643T	probably damaging	Het
Lamp1	T	A	8: 13,172,654	F279L	probably damaging	Het
Lrfn5	A	C	12: 61,839,668	T81P	probably damaging	Het
Lrrc58	A	G	16: 37,878,573		probably benign	Het
March6	T	C	15: 31,480,291	Y562C	probably benign	Het
Mark1	T	A	1: 184,921,608	I166F	probably damaging	Het
Mark2	A	G	19: 7,285,824	Y193H	probably damaging	Het
Mast4	C	G	13: 102,737,387	Q1632H	probably damaging	Het
Mcrs1	T	C	15: 99,243,449		probably benign	Het
Mgst3	A	G	1: 167,373,805	Y104H	probably damaging	Het
Mlxipl	C	T	5: 135,132,475	T416I	possibly damaging	Het
Mthfd2l	T	C	5: 90,946,942	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937	I312F	probably benign	Het
Muc1	C	A	3: 89,230,328	P159Q	possibly damaging	Het
Myom2	A	T	8: 15,132,924	K1454*	probably null	Het
Myt1	TGAGGAGGAGGAGGAGGAGG	TGAGGAGGAGGAGGAGG	2: 181,797,505		probably benign	Het
Olfr1513	T	C	14: 52,349,378	I223V	probably benign	Het
Olfr329-ps	T	A	11: 58,543,162	M105L	possibly damaging	Het
Olfr504	T	C	7: 108,564,998	T266A	possibly damaging	Het
Olfr629	T	C	7: 103,740,925	H105R	probably damaging	Het
Olfr905	A	T	9: 38,472,785	I13F	probably benign	Het
Pdcd6	A	G	13: 74,316,324		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Pzp	A	G	6: 128,516,195		probably benign	Het
Rab27b	T	C	18: 69,987,041		probably benign	Het
Rapgef3	G	A	15: 97,761,585		probably benign	Het
Rapsn	T	C	2: 91,036,808	Y152H	probably damaging	Het
Rgs11	T	A	17: 26,203,318	M29K	probably damaging	Het
Rictor	A	G	15: 6,764,278		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rims1	T	C	1: 22,427,459		probably null	Het
Samd9l	T	C	6: 3,372,725	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184	A127T	probably benign	Het
Slc22a28	T	C	19: 8,116,833	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,927,436	H78L	probably benign	Het
Slc26a1	T	A	5: 108,673,523	T167S	probably benign	Het
Slc2a12	T	C	10: 22,702,016		probably benign	Het
Slc44a5	T	C	3: 154,265,474	S654P	probably damaging	Het
Slc51a	T	A	16: 32,475,849	T306S	probably benign	Het
Slc6a13	T	G	6: 121,302,867	W67G	probably damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Supt20	T	A	3: 54,714,701	Y409N	probably damaging	Het
Synrg	C	T	11: 84,024,305	Q1046*	probably null	Het
Tab2	T	C	10: 7,907,581		probably benign	Het
Tcof1	T	C	18: 60,845,832	D48G	probably damaging	Het
Tex24	A	T	8: 27,344,720	H92L	possibly damaging	Het
Tgm6	T	C	2: 130,151,761	V640A	probably benign	Het
Tle2	T	C	10: 81,588,947	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949	A704S	probably benign	Het
Tomm34	T	C	2: 164,070,976	N22D	probably benign	Het
Trabd2b	A	G	4: 114,580,322	Q232R	probably benign	Het
Trim62	A	G	4: 128,884,215	S16G	probably damaging	Het
Ttc28	T	A	5: 111,231,081	I1144N	probably damaging	Het
Unc5a	C	A	13: 55,003,933	N56K	possibly damaging	Het
Ush2a	C	T	1: 188,814,406		probably benign	Het
Wrn	A	G	8: 33,295,006	I446T	possibly damaging	Het
Zbed5	T	A	5: 129,902,272	V354E	possibly damaging	Het
Zfp266	G	A	9: 20,499,799	H361Y	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TAGGCCAAGAGCAGGTGTTTTCCG -3'
(R):5'- TGTAATACAAGCCAGCCAAGGTCAC -3'

Sequencing Primer
(F):5'- GCAGGTGTTTTCCGAGCTG -3'
(R):5'- TCATGATGGACACAGAGATTCTGC -3'

Posted On

2013-09-30