Mutagenetix > Incidental Mutation

Incidental Mutation 'R1406:Sp110'

160367

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 #

R1406 (G1)

Quality Score

108

Status

Not validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 85506800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 421 (E421A)

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: E421A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: E421A

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186740

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.2%
20x: 76.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,750,189 (GRCm39)	T733A	probably benign	Het
Antxrl	A	G	14: 33,794,999 (GRCm39)	N476D	possibly damaging	Het
Armc8	G	T	9: 99,405,301 (GRCm39)	P268Q	probably benign	Het
Asb8	C	A	15: 98,034,304 (GRCm39)	G84C	probably damaging	Het
BC035044	A	T	6: 128,862,047 (GRCm39)		probably null	Het
Caprin1	A	G	2: 103,606,332 (GRCm39)	F303L	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Ctdspl2	G	A	2: 121,837,349 (GRCm39)	R371Q	probably damaging	Het
Dctn4	T	A	18: 60,689,402 (GRCm39)	D431E	probably benign	Het
Dhx40	T	C	11: 86,688,571 (GRCm39)	E284G	probably benign	Het
Dhx9	A	G	1: 153,340,684 (GRCm39)	V652A	probably damaging	Het
Fnip2	G	T	3: 79,415,398 (GRCm39)	N213K	possibly damaging	Het
Gm17535	A	G	9: 3,035,804 (GRCm39)	Y224C	probably null	Het
Itch	A	G	2: 155,048,274 (GRCm39)	E546G	possibly damaging	Het
Map3k20	A	T	2: 72,219,838 (GRCm39)	I257F	probably damaging	Het
Mdc1	C	T	17: 36,164,424 (GRCm39)	T1324I	probably benign	Het
Mertk	T	C	2: 128,613,406 (GRCm39)	I474T	probably benign	Het
Nav3	A	G	10: 109,719,495 (GRCm39)	V156A	possibly damaging	Het
Nbea	A	G	3: 55,944,702 (GRCm39)	V554A	probably benign	Het
Or10z1	T	A	1: 174,078,427 (GRCm39)	E22V	possibly damaging	Het
Or13c7c	C	T	4: 43,835,582 (GRCm39)	V303M	possibly damaging	Het
Or4f57	A	G	2: 111,790,926 (GRCm39)	V164A	probably benign	Het
Pask	A	G	1: 93,249,373 (GRCm39)	Y676H	probably benign	Het
Pcare	T	C	17: 72,056,156 (GRCm39)	N1174D	probably benign	Het
Rab32	A	G	10: 10,426,637 (GRCm39)	V103A	probably damaging	Het
Rp1	T	C	1: 4,422,144 (GRCm39)	E262G	possibly damaging	Het
Rtn4	A	G	11: 29,658,236 (GRCm39)	T797A	probably benign	Het
Sall1	A	T	8: 89,759,072 (GRCm39)	I344K	probably benign	Het
Scnn1b	T	C	7: 121,501,767 (GRCm39)		probably null	Het
Slc7a2	G	T	8: 41,358,622 (GRCm39)	G322W	probably damaging	Het
Snx29	A	G	16: 11,217,657 (GRCm39)	M153V	probably benign	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Ush1c	A	C	7: 45,874,965 (GRCm39)		probably null	Het
Vmn2r8	C	T	5: 108,950,234 (GRCm39)	M204I	probably benign	Het
Zfp839	C	T	12: 110,832,744 (GRCm39)	T554M	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
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'- TGATCACAGCAACCTTGGCCTC -3'
(R):5'- CTCTGGGACAGTGAAAAGCCATAGC -3'

Sequencing Primer
(F):5'- AGCATATTCTGCTTGCACTAGG -3'
(R):5'- ACTCAAAGGTCTGTGGTAAAGTC -3'

Posted On

2014-03-14