Mutagenetix > Incidental Mutation

Incidental Mutation 'R4505:Sp110'

377728

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4505 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85516894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 201 (Q201P)

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 damaging
Transcript: ENSMUST00000093508
AA Change: Q201P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: Q201P

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

Meta Mutation Damage Score

0.1200

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Acbd4	A	G	11: 102,995,605 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,747,727 (GRCm39)	S428C	probably damaging	Het
Atl3	T	A	19: 7,498,184 (GRCm39)	D193E	probably benign	Het
Bhlhe22	T	C	3: 18,109,123 (GRCm39)	S58P	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Farp2	A	T	1: 93,546,732 (GRCm39)	N917I	probably damaging	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr20	T	C	15: 73,568,321 (GRCm39)	T23A	probably benign	Het
Grb14	A	C	2: 64,852,912 (GRCm39)	V26G	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,874,087 (GRCm39)		silent	Het
Jak1	T	C	4: 101,011,800 (GRCm39)	T1101A	probably benign	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Lrig3	C	T	10: 125,849,216 (GRCm39)	P979S	probably benign	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Map4	T	C	9: 109,861,253 (GRCm39)	S206P	probably benign	Het
Mon2	A	G	10: 122,845,494 (GRCm39)	S1405P	probably damaging	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Or5p62	T	C	7: 107,771,175 (GRCm39)	I259V	probably benign	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pithd1	T	C	4: 135,706,144 (GRCm39)	N37S	probably benign	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Prb1a	T	A	6: 132,184,533 (GRCm39)	R367*	probably null	Het
Psmb4	A	C	3: 94,793,456 (GRCm39)	Y142D	probably damaging	Het
Ptprs	T	C	17: 56,758,678 (GRCm39)	N181S	possibly damaging	Het
Rcbtb2	T	C	14: 73,411,345 (GRCm39)	L370P	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Runx1t1	G	T	4: 13,889,676 (GRCm39)	C535F	probably damaging	Het
Samd4b	A	G	7: 28,106,925 (GRCm39)	M329T	probably benign	Het
Serpinb9g	T	A	13: 33,670,546 (GRCm39)	F11L	probably damaging	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Tjp2	T	C	19: 24,086,195 (GRCm39)	T776A	possibly damaging	Het
Tmc1	C	T	19: 20,845,738 (GRCm39)	V162I	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Ush2a	A	G	1: 188,460,793 (GRCm39)	T2685A	possibly damaging	Het
Vmn2r102	C	T	17: 19,880,845 (GRCm39)	T62I	probably benign	Het
Vps13c	A	T	9: 67,846,316 (GRCm39)	Q2128L	probably benign	Het
Zfp26	T	C	9: 20,353,561 (GRCm39)	E76G	probably benign	Het
Zfp28	T	C	7: 6,397,160 (GRCm39)	S532P	probably 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
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
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'- TGTCTTTGACAACTGAAGGAGGAAG -3'
(R):5'- CATTGCGTTCCAGAGTTGGG -3'

Sequencing Primer
(F):5'- GGAAAGGGTTGGGTTACTGAACTG -3'
(R):5'- AGTATGGACTCAGTAACTTTTCCTC -3'

Posted On

2016-03-25