Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Sp100'

77873

Institutional Source

Beutler Lab

Gene Symbol

Sp100

Ensembl Gene

ENSMUSG00000026222

Gene Name

nuclear antigen Sp100

Synonyms

A430075G10Rik

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85577709-85637719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85627465 bp (GRCm39)

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]

AlphaFold

O35892

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: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,177,824 (GRCm39)	G7D	probably benign	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Asphd2	A	T	5: 112,539,635 (GRCm39)	L66H	probably damaging	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,775 (GRCm39)		probably benign	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Cfap43	C	A	19: 47,804,285 (GRCm39)	V304L	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,623,210 (GRCm39)	S124P	probably damaging	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,998 (GRCm39)	H278R	probably benign	Het
Fhod3	T	A	18: 25,199,275 (GRCm39)	Y649N	probably damaging	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itga2	A	G	13: 114,993,215 (GRCm39)	V800A	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Kcnd2	T	A	6: 21,727,328 (GRCm39)	V627E	probably damaging	Het
Kcnd2	T	C	6: 21,726,238 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,938,519 (GRCm39)		probably null	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Macf1	A	G	4: 123,388,675 (GRCm39)		probably null	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Nfkbia	C	A	12: 55,537,561 (GRCm39)	A211S	probably damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Pmch	A	G	10: 87,927,086 (GRCm39)	I30V	probably benign	Het
Ppat	A	C	5: 77,070,348 (GRCm39)	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rbp3	T	G	14: 33,678,595 (GRCm39)	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,225,049 (GRCm39)	T397A	probably benign	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Sorcs3	G	A	19: 48,475,833 (GRCm39)	V231I	probably benign	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,718,925 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Thbs4	T	G	13: 92,894,546 (GRCm39)	D659A	probably damaging	Het
Tmed11	A	T	5: 108,943,175 (GRCm39)	M1K	probably null	Het
Tmpo	A	T	10: 90,997,815 (GRCm39)	C657*	probably null	Het
Unc5a	C	A	13: 55,151,746 (GRCm39)	N56K	possibly damaging	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,575,822 (GRCm39)	H231L	possibly damaging	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably damaging	Het

Other mutations in Sp100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01082:Sp100	APN	1	85,597,741 (GRCm39)	missense	possibly damaging	0.48
IGL01998:Sp100	APN	1	85,594,650 (GRCm39)	missense	probably benign	0.01
IGL02192:Sp100	APN	1	85,635,722 (GRCm39)	missense	probably damaging	0.99
IGL02809:Sp100	APN	1	85,608,845 (GRCm39)	missense	probably damaging	0.99
IGL03274:Sp100	APN	1	85,635,025 (GRCm39)	intron	probably benign
PIT4458001:Sp100	UTSW	1	85,635,837 (GRCm39)	missense	probably benign	0.10
R0115:Sp100	UTSW	1	85,577,852 (GRCm39)	splice site	probably benign
R0599:Sp100	UTSW	1	85,608,831 (GRCm39)	missense	possibly damaging	0.68
R0620:Sp100	UTSW	1	85,587,588 (GRCm39)	splice site	probably null
R0693:Sp100	UTSW	1	85,594,726 (GRCm39)	critical splice donor site	probably null
R0709:Sp100	UTSW	1	85,622,002 (GRCm39)	missense	probably damaging	0.96
R0744:Sp100	UTSW	1	85,627,465 (GRCm39)	missense	probably damaging	0.97
R1175:Sp100	UTSW	1	85,629,141 (GRCm39)	missense	possibly damaging	0.83
R1496:Sp100	UTSW	1	85,591,242 (GRCm39)	splice site	probably benign
R1749:Sp100	UTSW	1	85,627,357 (GRCm39)	missense	possibly damaging	0.95
R2046:Sp100	UTSW	1	85,636,786 (GRCm39)	missense	possibly damaging	0.53
R2069:Sp100	UTSW	1	85,608,863 (GRCm39)	splice site	probably null
R2441:Sp100	UTSW	1	85,631,210 (GRCm39)	unclassified	probably benign
R3933:Sp100	UTSW	1	85,608,830 (GRCm39)	missense	probably benign	0.29
R4171:Sp100	UTSW	1	85,634,562 (GRCm39)	missense	probably benign	0.00
R4762:Sp100	UTSW	1	85,629,179 (GRCm39)	makesense	probably null
R4863:Sp100	UTSW	1	85,632,724 (GRCm39)	missense	probably benign	0.03
R5156:Sp100	UTSW	1	85,601,404 (GRCm39)	missense	probably damaging	1.00
R5273:Sp100	UTSW	1	85,636,825 (GRCm39)	missense	possibly damaging	0.86
R5635:Sp100	UTSW	1	85,609,985 (GRCm39)	intron	probably benign
R5810:Sp100	UTSW	1	85,593,006 (GRCm39)	missense	probably benign	0.12
R5910:Sp100	UTSW	1	85,608,861 (GRCm39)	critical splice donor site	probably null
R5931:Sp100	UTSW	1	85,606,804 (GRCm39)	missense	probably damaging	1.00
R7466:Sp100	UTSW	1	85,634,960 (GRCm39)	missense	possibly damaging	0.93
R7514:Sp100	UTSW	1	85,608,860 (GRCm39)	nonsense	probably null
R7647:Sp100	UTSW	1	85,619,764 (GRCm39)	missense	possibly damaging	0.91
R7851:Sp100	UTSW	1	85,634,647 (GRCm39)	missense	probably benign	0.12
R7908:Sp100	UTSW	1	85,635,788 (GRCm39)	missense	possibly damaging	0.51
R8064:Sp100	UTSW	1	85,608,860 (GRCm39)	nonsense	probably null
R8094:Sp100	UTSW	1	85,624,819 (GRCm39)	missense	possibly damaging	0.95
R8757:Sp100	UTSW	1	85,590,285 (GRCm39)	missense	possibly damaging	0.92
R8785:Sp100	UTSW	1	85,627,472 (GRCm39)	critical splice donor site	probably benign
R9382:Sp100	UTSW	1	85,627,336 (GRCm39)	missense	probably damaging	0.99
R9453:Sp100	UTSW	1	85,629,179 (GRCm39)	makesense	probably null
R9464:Sp100	UTSW	1	85,624,751 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCCAAGAGCAGGTGTTTTCC -3'
(R):5'- AGCTGTAATACAAGCCAGCCAAGG -3'

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

Posted On

2013-10-16