Mutagenetix > Incidental Mutation

Incidental Mutation 'R4986:Sp110'

385861

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

MMRRC Submission

042580-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4986 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85519481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 116 (P116S)

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
AA Change: P116S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: P116S

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: ENSMUST00000151690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152399

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.2%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,573,317 (GRCm39)	C1005S	probably benign	Het
Armh4	A	T	14: 49,989,111 (GRCm39)	D619E	probably damaging	Het
Ccdc34	T	C	2: 109,848,214 (GRCm39)	M1T	probably null	Het
Ceacam5	T	A	7: 17,491,758 (GRCm39)	N709K	possibly damaging	Het
Ces2f	G	A	8: 105,678,657 (GRCm39)	S298N	probably benign	Het
Defa30	T	A	8: 21,625,432 (GRCm39)	Y65*	probably null	Het
Dock3	A	C	9: 106,809,182 (GRCm39)	C1314G	probably damaging	Het
Emc2	A	G	15: 43,375,180 (GRCm39)	M226V	probably benign	Het
Fat3	T	C	9: 15,909,636 (GRCm39)	Y2122C	probably damaging	Het
Gad1	A	G	2: 70,431,037 (GRCm39)	D560G	probably benign	Het
Gm9944	T	C	4: 144,179,760 (GRCm39)		probably benign	Het
Gpr137c	A	T	14: 45,483,743 (GRCm39)		probably null	Het
Igf2bp2	C	T	16: 21,889,056 (GRCm39)		probably null	Het
Igsf10	T	C	3: 59,236,027 (GRCm39)	T1385A	probably benign	Het
Itpr2	T	A	6: 146,141,840 (GRCm39)	N1734I	probably damaging	Het
Kbtbd6	A	G	14: 79,690,049 (GRCm39)	H248R	probably damaging	Het
Macf1	C	T	4: 123,284,914 (GRCm39)	R5650Q	probably damaging	Het
Mdh1	A	G	11: 21,508,545 (GRCm39)	F266L	possibly damaging	Het
Mecom	G	T	3: 30,034,848 (GRCm39)	P466Q	probably damaging	Het
Muc20	A	G	16: 32,598,009 (GRCm39)		probably benign	Het
Or4x11	A	T	2: 89,867,772 (GRCm39)	N170Y	probably damaging	Het
Or5w8	T	A	2: 87,687,858 (GRCm39)	L113Q	probably damaging	Het
Osmr	A	G	15: 6,846,061 (GRCm39)		probably null	Het
Rrs1	G	A	1: 9,615,992 (GRCm39)	E82K	probably damaging	Het
Sacs	T	A	14: 61,450,492 (GRCm39)	Y4179*	probably null	Het
Septin11	T	C	5: 93,309,100 (GRCm39)	V203A	probably damaging	Het
Skint9	T	A	4: 112,248,910 (GRCm39)	T173S	probably benign	Het
Slain1	A	T	14: 103,925,541 (GRCm39)	R296S	probably damaging	Het
Slc36a3	T	A	11: 55,037,592 (GRCm39)	*93C	probably null	Het
Srl	T	C	16: 4,314,646 (GRCm39)	Y332C	probably benign	Het
Ubtf	G	A	11: 102,205,000 (GRCm39)	H95Y	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Wdfy3	C	T	5: 102,090,985 (GRCm39)	D532N	probably benign	Het
Ybx1	C	T	4: 119,139,627 (GRCm39)	V123I	probably damaging	Het
Zfp944	A	T	17: 22,558,211 (GRCm39)	H345Q	probably damaging	Het
Zfp993	T	A	4: 146,742,014 (GRCm39)	F113I	probably benign	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
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

Posted On

2016-05-10