Mutagenetix > Incidental Mutation

Incidental Mutation 'R8072:Sp110'

620268

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

MMRRC Submission

067507-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R8072 (G1)

Quality Score

131.467

Status

Not validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GTACT to GTACTACT at 85515207 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,244,574 (GRCm39)	S2146P	probably benign	Het
Acad9	G	A	3: 36,129,404 (GRCm39)	V160I	probably benign	Het
Ace	T	C	11: 105,863,785 (GRCm39)	V411A	probably damaging	Het
Ankrd66	T	C	17: 43,854,526 (GRCm39)	E2G	possibly damaging	Het
Apol6	A	T	15: 76,935,303 (GRCm39)	T191S	probably benign	Het
Arhgef17	T	A	7: 100,531,004 (GRCm39)	T352S	probably benign	Het
Atad2	C	T	15: 57,963,374 (GRCm39)	R1081Q	possibly damaging	Het
Atg3	G	T	16: 45,008,048 (GRCm39)	V297F	probably damaging	Het
Atp9b	A	C	18: 80,808,276 (GRCm39)	S663A		Het
Col10a1	G	T	10: 34,266,663 (GRCm39)	V16F	unknown	Het
Col3a1	G	A	1: 45,360,734 (GRCm39)	V55I	unknown	Het
Ctns	T	C	11: 73,082,572 (GRCm39)	T53A	probably benign	Het
Cyp2b23	A	T	7: 26,365,431 (GRCm39)	I468N	probably damaging	Het
Dcbld2	G	A	16: 58,283,460 (GRCm39)	W565*	probably null	Het
Esco2	A	T	14: 66,070,130 (GRCm39)	N16K	probably benign	Het
Fggy	A	G	4: 95,732,394 (GRCm39)	N462D	possibly damaging	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Gm4846	T	C	1: 166,322,241 (GRCm39)	T109A	probably benign	Het
H2-M11	G	T	17: 36,859,026 (GRCm39)	V189L	probably benign	Het
Hmcn1	T	A	1: 150,532,256 (GRCm39)	T3175S	possibly damaging	Het
Hook2	G	A	8: 85,721,120 (GRCm39)	V184M	probably benign	Het
Hspa4l	A	T	3: 40,741,178 (GRCm39)	D730V	probably damaging	Het
Igkv4-68	C	T	6: 69,282,113 (GRCm39)	M19I	probably benign	Het
Igsf9b	C	A	9: 27,228,660 (GRCm39)	T140N	possibly damaging	Het
Kcnj1	G	A	9: 32,308,593 (GRCm39)	R339Q	probably damaging	Het
Lcn8	T	G	2: 25,545,184 (GRCm39)	L118W	probably damaging	Het
Lin28a	A	G	4: 133,745,453 (GRCm39)	F47L	possibly damaging	Het
Loxl4	T	C	19: 42,596,021 (GRCm39)	E144G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgprb1	C	A	7: 48,097,895 (GRCm39)	E6*	probably null	Het
Mthfsd	A	C	8: 121,825,555 (GRCm39)	Y339D	probably damaging	Het
Mup11	A	T	4: 60,615,777 (GRCm39)	F153L	probably damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Plpp7	G	T	2: 31,986,121 (GRCm39)	A100S	probably benign	Het
Prg4	T	C	1: 150,331,774 (GRCm39)	T300A	possibly damaging	Het
Ptprd	A	G	4: 76,004,273 (GRCm39)	F161L	probably benign	Het
Pwp2	G	A	10: 78,007,930 (GRCm39)	A875V	possibly damaging	Het
Rhd	A	G	4: 134,611,460 (GRCm39)	T207A	possibly damaging	Het
Sh2d3c	C	T	2: 32,643,150 (GRCm39)	R778C	probably damaging	Het
Slc34a3	A	C	2: 25,119,289 (GRCm39)	V527G	probably benign	Het
Smad2	T	C	18: 76,420,022 (GRCm39)		probably null	Het
Spata21	C	T	4: 140,839,317 (GRCm39)	Q611*	probably null	Het
Taf4b	A	G	18: 14,954,585 (GRCm39)	T554A	probably benign	Het
Tial1	T	C	7: 128,044,194 (GRCm39)	T107A	unknown	Het
Ubxn6	C	A	17: 56,380,195 (GRCm39)	R42L	probably benign	Het
Vmn2r90	A	T	17: 17,947,142 (GRCm39)	N473I	probably damaging	Het
Ythdc1	T	A	5: 86,969,133 (GRCm39)	Y351*	probably null	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
R1079:Sp110	UTSW	1	85,516,825 (GRCm39)	splice site	probably benign
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
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'- GCTTGGTTCAATATGTCTAAGTGC -3'
(R):5'- AGATCTAGGTGGAACCCTACG -3'

Sequencing Primer
(F):5'- GTTCAATATGTCTAAGTGCCTTCTTG -3'
(R):5'- CCTACGGGCTGGCAGAC -3'

Posted On

2020-01-23