Mutagenetix > Incidental Mutation

Incidental Mutation 'R1079:Sp110'

239213

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

Ifi75, 5830484A20Rik, 5031415C07Rik, Ipr1, 52kDa

MMRRC Submission

039165-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R1079 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 85516825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000091226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093508]

AlphaFold

Q8BVK9

PDB Structure

Solution structure of the SAND domain of the putative nuclear protein homolog (5830484A20Rik) [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000093508

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034

Domain	Start	End	E-Value	Type
Pfam:Sp100	8	106	2.3e-41	PFAM
low complexity region	242	254	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC
SAND	360	433	3.55e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186740

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	C	7: 30,399,209 (GRCm39)	M1T	probably null	Het
Adam25	T	C	8: 41,208,513 (GRCm39)	V593A	possibly damaging	Het
Agrn	C	T	4: 156,261,682 (GRCm39)	C536Y	probably damaging	Het
Amigo3	T	C	9: 107,931,051 (GRCm39)	M158T	probably benign	Het
Arsa	G	A	15: 89,358,428 (GRCm39)		probably benign	Het
Baz1a	T	A	12: 54,941,785 (GRCm39)	I1474L	possibly damaging	Het
Cfap144	A	G	11: 58,692,620 (GRCm39)	Y36H	probably benign	Het
Cfap65	A	G	1: 74,944,872 (GRCm39)	V1455A	probably damaging	Het
Cfap65	G	A	1: 74,941,606 (GRCm39)	A1776V	probably damaging	Het
Cnot6	G	T	11: 49,575,930 (GRCm39)	D176E	probably benign	Het
Crot	A	T	5: 9,043,504 (GRCm39)		probably null	Het
Cryba2	A	T	1: 74,929,717 (GRCm39)	V140E	probably damaging	Het
Dennd4b	G	A	3: 90,178,485 (GRCm39)	R516K	probably benign	Het
Dst	C	A	1: 34,225,944 (GRCm39)	T1697N	possibly damaging	Het
Eftud2	G	T	11: 102,730,870 (GRCm39)	Y837*	probably null	Het
Evpl	G	T	11: 116,120,894 (GRCm39)	T447K	possibly damaging	Het
Fndc3a	A	T	14: 72,827,247 (GRCm39)	M146K	possibly damaging	Het
Folh1	G	T	7: 86,421,089 (GRCm39)	T80K	probably damaging	Het
Gm4922	T	A	10: 18,660,086 (GRCm39)	Y212F	probably damaging	Het
Gtf2i	T	G	5: 134,271,748 (GRCm39)		probably benign	Het
Hipk3	A	G	2: 104,302,043 (GRCm39)	F50L	probably benign	Het
Ifit1bl2	T	A	19: 34,596,885 (GRCm39)	T244S	probably benign	Het
Ikzf2	T	C	1: 69,578,264 (GRCm39)	D341G	possibly damaging	Het
Kif3a	G	C	11: 53,461,408 (GRCm39)	V17L	possibly damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lzts2	T	A	19: 45,011,983 (GRCm39)	N137K	probably damaging	Het
Mphosph8	T	A	14: 56,911,716 (GRCm39)	D246E	probably damaging	Het
Myh14	T	C	7: 44,279,426 (GRCm39)	E918G	probably damaging	Het
N6amt1	T	C	16: 87,153,086 (GRCm39)	V52A	probably damaging	Het
Npr2	A	C	4: 43,643,654 (GRCm39)	T561P	probably damaging	Het
Nudt12	G	A	17: 59,318,032 (GRCm39)		probably benign	Het
Or10ad1	A	C	15: 98,106,223 (GRCm39)	V14G	probably damaging	Het
Or5w8	A	G	2: 87,687,699 (GRCm39)	Y60C	probably damaging	Het
Or6n2	A	T	1: 173,897,032 (GRCm39)	H56L	possibly damaging	Het
Or8k22	T	A	2: 86,163,185 (GRCm39)	R172W	probably damaging	Het
Pan2	A	G	10: 128,154,107 (GRCm39)	T1050A	probably damaging	Het
Rad17	G	T	13: 100,770,407 (GRCm39)	D213E	probably benign	Het
Sall2	T	A	14: 52,550,660 (GRCm39)	H843L	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	A	T	5: 14,275,669 (GRCm39)	N258I	probably benign	Het
Siglec1	G	A	2: 130,921,297 (GRCm39)	R625*	probably null	Het
Slc15a3	T	C	19: 10,833,344 (GRCm39)	S454P	probably benign	Het
Spatc1l	T	C	10: 76,399,741 (GRCm39)	S88P	probably damaging	Het
Ssh3	A	C	19: 4,316,577 (GRCm39)	L143R	probably damaging	Het
Ttn	C	T	2: 76,587,340 (GRCm39)		probably benign	Het
Vps35	A	G	8: 86,005,683 (GRCm39)	L306S	probably damaging	Het
Zfp729a	T	C	13: 67,767,794 (GRCm39)	I812V	possibly damaging	Het

Other mutations in Sp110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Sp110	APN	1	85,505,050 (GRCm39)	missense	probably benign
IGL00510:Sp110	APN	1	85,505,050 (GRCm39)	missense	probably benign
IGL00516:Sp110	APN	1	85,505,050 (GRCm39)	missense	probably benign
IGL00990:Sp110	APN	1	85,514,002 (GRCm39)	missense	possibly damaging	0.51
IGL03382:Sp110	APN	1	85,505,050 (GRCm39)	missense	probably benign
FR4342:Sp110	UTSW	1	85,515,209 (GRCm39)	small insertion	probably benign
FR4976:Sp110	UTSW	1	85,515,210 (GRCm39)	small insertion	probably benign
IGL03147:Sp110	UTSW	1	85,519,288 (GRCm39)	frame shift	probably null
PIT4131001:Sp110	UTSW	1	85,513,975 (GRCm39)	missense	probably benign	0.01
PIT4131001:Sp110	UTSW	1	85,513,971 (GRCm39)	missense	probably benign	0.05
PIT4142001:Sp110	UTSW	1	85,513,975 (GRCm39)	missense	probably benign	0.01
PIT4142001:Sp110	UTSW	1	85,513,971 (GRCm39)	missense	probably benign	0.05
R0472:Sp110	UTSW	1	85,516,841 (GRCm39)	missense	possibly damaging	0.79
R0483:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R0551:Sp110	UTSW	1	85,516,821 (GRCm39)	splice site	probably benign
R0638:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R0806:Sp110	UTSW	1	85,514,002 (GRCm39)	missense	possibly damaging	0.51
R0806:Sp110	UTSW	1	85,513,975 (GRCm39)	missense	probably benign	0.01
R1074:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R1228:Sp110	UTSW	1	85,519,481 (GRCm39)	missense	probably benign	0.03
R1403:Sp110	UTSW	1	85,506,800 (GRCm39)	missense	probably benign	0.00
R1406:Sp110	UTSW	1	85,506,800 (GRCm39)	missense	probably benign	0.00
R1418:Sp110	UTSW	1	85,522,106 (GRCm39)	missense	probably benign	0.08
R1718:Sp110	UTSW	1	85,522,106 (GRCm39)	missense	probably benign	0.08
R1744:Sp110	UTSW	1	85,522,093 (GRCm39)	missense	probably benign	0.26
R1747:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R1806:Sp110	UTSW	1	85,523,831 (GRCm39)	critical splice acceptor site	probably null
R1957:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R2404:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R2964:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R3176:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R4190:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R4398:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R4505:Sp110	UTSW	1	85,516,894 (GRCm39)	missense	probably damaging	1.00
R4565:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R4625:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R4922:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R4986:Sp110	UTSW	1	85,519,481 (GRCm39)	missense	probably benign	0.03
R5014:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R5080:Sp110	UTSW	1	85,523,776 (GRCm39)	nonsense	probably null
R5087:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5254:Sp110	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R5335:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5353:Sp110	UTSW	1	85,516,841 (GRCm39)	missense	possibly damaging	0.79
R5383:Sp110	UTSW	1	85,519,290 (GRCm39)	frame shift	probably null
R5387:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5389:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5398:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5443:Sp110	UTSW	1	85,516,841 (GRCm39)	missense	possibly damaging	0.79
R5447:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5729:Sp110	UTSW	1	85,516,839 (GRCm39)	missense	probably damaging	0.99
R5752:Sp110	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R5754:Sp110	UTSW	1	85,504,923 (GRCm39)	utr 3 prime	probably benign
R5799:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R6027:Sp110	UTSW	1	85,505,039 (GRCm39)	missense	possibly damaging	0.83
R6171:Sp110	UTSW	1	85,505,050 (GRCm39)	missense	probably benign
R6367:Sp110	UTSW	1	85,522,013 (GRCm39)	missense	probably benign	0.00
R6771:Sp110	UTSW	1	85,520,000 (GRCm39)	splice site	probably null
R7097:Sp110	UTSW	1	85,507,406 (GRCm39)	missense	possibly damaging	0.80
R7519:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7520:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7594:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7596:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7598:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7600:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7601:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7602:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7640:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7641:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7674:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7691:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R7695:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
R8072:Sp110	UTSW	1	85,515,207 (GRCm39)	small insertion	probably benign
R8794:Sp110	UTSW	1	85,511,231 (GRCm39)	critical splice donor site	probably null
R9284:Sp110	UTSW	1	85,507,363 (GRCm39)	critical splice donor site	probably null
R9350:Sp110	UTSW	1	85,506,813 (GRCm39)	missense	probably benign	0.01
X0035:Sp110	UTSW	1	85,513,975 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGCCATGCTCCTGAGTCATCTTG -3'
(R):5'- TGCTGAAGACTGACATTGCGTTCC -3'

Sequencing Primer
(F):5'- CCTGAGTCATCTTGCTTGTTAG -3'
(R):5'- ggaggaggaggaggaggag -3'

Posted On

2014-10-08