Mutagenetix > Incidental Mutation

Incidental Mutation 'R7601:Sp110'

587993

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R7601 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

85576899-85598817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85579092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 417 (R417C)

Ref Sequence

ENSEMBL: ENSMUSP00000091226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093508] [ENSMUST00000178024]

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
AA Change: R417C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: R417C

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

probably benign
Transcript: ENSMUST00000178024

SMART Domains

Protein: ENSMUSP00000136816
Gene: ENSMUSG00000094127

Domain	Start	End	E-Value	Type
low complexity region	1	10	N/A	INTRINSIC
low complexity region	82	122	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 35,895,849	L16P	probably damaging	Het
Abcc5	A	T	16: 20,375,132	Y746*	probably null	Het
Abcd4	A	G	12: 84,613,945	Y129H	possibly damaging	Het
Acot10	T	C	15: 20,665,629	D342G	probably damaging	Het
Als2	G	T	1: 59,170,002	T1466K	probably benign	Het
Calcr	A	T	6: 3,687,603	I465N	probably benign	Het
Ccndbp1	T	C	2: 121,016,146	S309P	probably damaging	Het
Cdh22	A	G	2: 165,112,546	L685P	probably damaging	Het
Cenps	A	G	4: 149,132,315	V39A	possibly damaging	Het
Dbr1	G	T	9: 99,582,602	E145*	probably null	Het
Dync1i1	T	A	6: 5,905,129	V161E	probably benign	Het
F10	A	G	8: 13,050,781	T232A	probably benign	Het
Faim2	C	T	15: 99,500,266	G279D	probably damaging	Het
Fam102b	T	A	3: 108,988,312	T151S	possibly damaging	Het
Fam114a2	T	C	11: 57,514,216	K20R	possibly damaging	Het
Hspa4l	T	C	3: 40,784,356		probably null	Het
Impg2	A	T	16: 56,260,031	I733L	probably benign	Het
Itga11	T	C	9: 62,696,926	V32A	probably benign	Het
Lima1	G	A	15: 99,819,696	P143L	probably benign	Het
Lum	A	T	10: 97,568,306	Y21F	probably damaging	Het
Muc6	A	G	7: 141,636,541	S2740P	unknown	Het
Nav1	A	T	1: 135,460,438	D1082E	unknown	Het
Nmur1	A	C	1: 86,388,019	C41W	probably damaging	Het
Olfr1281	T	C	2: 111,329,220	V267A	probably benign	Het
Olfr195	A	G	16: 59,149,234	N128S	probably benign	Het
Olfr288	G	A	15: 98,186,979	H273Y	probably damaging	Het
Olfr890	T	C	9: 38,143,378	V76A	probably benign	Het
Pdcd11	T	C	19: 47,106,369	S531P	not run	Het
Phtf1	T	A	3: 103,993,845	H403Q	probably benign	Het
Piezo1	C	T	8: 122,483,481		probably null	Het
Pigh	G	A	12: 79,085,705	T111I	probably damaging	Het
Plekhf1	T	C	7: 38,221,880	E88G	probably damaging	Het
Pnliprp1	C	T	19: 58,732,094	T134M	probably damaging	Het
Ptges	T	A	2: 30,892,797	Y81F	probably benign	Het
Sema7a	T	C	9: 57,940,277	S43P	probably benign	Het
Sephs2	A	T	7: 127,272,946	I325K	probably damaging	Het
Slc45a1	A	T	4: 150,629,537	N750K	possibly damaging	Het
Tbc1d23	A	T	16: 57,181,534	M519K	probably benign	Het
Trdn	A	G	10: 33,196,156	E273G	probably benign	Het
Ubtf	G	A	11: 102,306,654	S724F	unknown	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 8,086,211		probably benign	Het

Other mutations in Sp110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Sp110	APN	1	85577329	missense	probably benign
IGL00510:Sp110	APN	1	85577329	missense	probably benign
IGL00516:Sp110	APN	1	85577329	missense	probably benign
IGL00990:Sp110	APN	1	85586281	missense	possibly damaging	0.51
IGL03382:Sp110	APN	1	85577329	missense	probably benign
FR4342:Sp110	UTSW	1	85587488	small insertion	probably benign
FR4976:Sp110	UTSW	1	85587489	small insertion	probably benign
IGL03147:Sp110	UTSW	1	85591567	frame shift	probably null
PIT4131001:Sp110	UTSW	1	85586250	missense	probably benign	0.05
PIT4131001:Sp110	UTSW	1	85586254	missense	probably benign	0.01
PIT4142001:Sp110	UTSW	1	85586250	missense	probably benign	0.05
PIT4142001:Sp110	UTSW	1	85586254	missense	probably benign	0.01
R0472:Sp110	UTSW	1	85589120	missense	possibly damaging	0.79
R0483:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R0551:Sp110	UTSW	1	85589100	splice site	probably benign
R0638:Sp110	UTSW	1	85577329	missense	probably benign
R0806:Sp110	UTSW	1	85586254	missense	probably benign	0.01
R0806:Sp110	UTSW	1	85586281	missense	possibly damaging	0.51
R1074:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R1079:Sp110	UTSW	1	85589104	splice site	probably benign
R1228:Sp110	UTSW	1	85591760	missense	probably benign	0.03
R1403:Sp110	UTSW	1	85579079	missense	probably benign	0.00
R1406:Sp110	UTSW	1	85579079	missense	probably benign	0.00
R1418:Sp110	UTSW	1	85594385	missense	probably benign	0.08
R1718:Sp110	UTSW	1	85594385	missense	probably benign	0.08
R1744:Sp110	UTSW	1	85594372	missense	probably benign	0.26
R1747:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R1806:Sp110	UTSW	1	85596110	critical splice acceptor site	probably null
R1957:Sp110	UTSW	1	85577329	missense	probably benign
R2404:Sp110	UTSW	1	85577329	missense	probably benign
R2964:Sp110	UTSW	1	85577329	missense	probably benign
R3176:Sp110	UTSW	1	85577329	missense	probably benign
R4190:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R4398:Sp110	UTSW	1	85577329	missense	probably benign
R4505:Sp110	UTSW	1	85589173	missense	probably damaging	1.00
R4565:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R4625:Sp110	UTSW	1	85577329	missense	probably benign
R4922:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R4986:Sp110	UTSW	1	85591760	missense	probably benign	0.03
R5014:Sp110	UTSW	1	85577329	missense	probably benign
R5080:Sp110	UTSW	1	85596055	nonsense	probably null
R5087:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5254:Sp110	UTSW	1	85577202	utr 3 prime	probably benign
R5335:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5353:Sp110	UTSW	1	85589120	missense	possibly damaging	0.79
R5383:Sp110	UTSW	1	85591569	frame shift	probably null
R5387:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5389:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5398:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5443:Sp110	UTSW	1	85589120	missense	possibly damaging	0.79
R5447:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5729:Sp110	UTSW	1	85589118	missense	probably damaging	0.99
R5752:Sp110	UTSW	1	85577202	utr 3 prime	probably benign
R5754:Sp110	UTSW	1	85577202	utr 3 prime	probably benign
R5799:Sp110	UTSW	1	85577329	missense	probably benign
R6027:Sp110	UTSW	1	85577318	missense	possibly damaging	0.83
R6171:Sp110	UTSW	1	85577329	missense	probably benign
R6367:Sp110	UTSW	1	85594292	missense	probably benign	0.00
R6771:Sp110	UTSW	1	85592279	splice site	probably null
R7097:Sp110	UTSW	1	85579685	missense	possibly damaging	0.80
R7519:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7520:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7594:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7596:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7598:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7600:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7602:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7640:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7641:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7674:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7691:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R7695:Sp110	UTSW	1	85579092	missense	probably benign	0.01
R8072:Sp110	UTSW	1	85587486	small insertion	probably benign
R8794:Sp110	UTSW	1	85583510	critical splice donor site	probably null
R9284:Sp110	UTSW	1	85579642	critical splice donor site	probably null
R9350:Sp110	UTSW	1	85579092	missense	probably benign	0.01
X0035:Sp110	UTSW	1	85586254	missense	probably benign	0.01

Predicted Primers

Posted On

2019-10-24