Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Sp110'

216189

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

MMRRC Submission

038827-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R0638 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85576899-85598817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85577329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 434 (F434C)

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: F434C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: F434C

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
4932414N04Rik	C	A	2: 68,717,228	Q161K	probably benign	Het
Aatk	A	T	11: 120,009,922	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,503,671	F463L	possibly damaging	Het
Antxr2	C	T	5: 97,960,637	W338*	probably null	Het
Apc2	T	C	10: 80,304,967	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,308,188		probably null	Het
Arrdc5	A	G	17: 56,300,020	V75A	possibly damaging	Het
Atg16l2	A	T	7: 101,300,110		probably null	Het
Cacna1i	A	G	15: 80,381,080	N1511S	possibly damaging	Het
Cad	T	C	5: 31,077,688	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,128,437		probably benign	Het
Crybg2	A	G	4: 134,074,454	D975G	probably damaging	Het
Dagla	T	C	19: 10,254,883	I480V	probably damaging	Het
Efl1	C	T	7: 82,651,887	T33I	probably damaging	Het
Esp36	A	G	17: 38,417,169	F74L	probably benign	Het
Faim	T	C	9: 98,992,096		probably benign	Het
Fam83h	G	T	15: 76,003,927	H520Q	probably benign	Het
Fbn2	A	T	18: 58,045,374	C1931S	probably damaging	Het
Frs3	A	G	17: 47,701,656	D96G	probably benign	Het
Gbp4	A	G	5: 105,121,840	M374T	probably damaging	Het
Gimap1	C	T	6: 48,741,425		probably benign	Het
Gm10010	A	G	6: 128,200,613		noncoding transcript	Het
Gm10355	T	C	3: 101,306,898		noncoding transcript	Het
Gmip	C	T	8: 69,811,445		probably benign	Het
Gpc2	A	T	5: 138,278,534	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,762,759	V45M	probably benign	Het
Il15	T	C	8: 82,343,261	E58G	probably damaging	Het
Kat2b	T	C	17: 53,644,743		probably benign	Het
Kcnh7	C	A	2: 62,777,510	V576L	probably benign	Het
Lrrc66	T	A	5: 73,615,473		probably benign	Het
Mical1	A	G	10: 41,482,239	E416G	probably benign	Het
Mroh3	A	G	1: 136,191,002	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,869,290		probably benign	Het
Naip6	A	T	13: 100,300,528	Y496N	probably benign	Het
Nfyc	A	G	4: 120,768,884	S73P	probably benign	Het
Olfr1418	C	T	19: 11,855,123	V277M	probably damaging	Het
Olfr1418	A	C	19: 11,855,368	V195G	probably damaging	Het
Olfr382	T	A	11: 73,516,924	I92F	probably damaging	Het
Olfr810	T	A	10: 129,791,232	D119V	probably damaging	Het
Olfr995	A	G	2: 85,438,501	I219T	probably benign	Het
P2ry14	A	G	3: 59,115,448	V206A	probably benign	Het
Polg	G	A	7: 79,460,148		probably benign	Het
Ptgs1	G	A	2: 36,240,856		probably benign	Het
Pus7l	A	G	15: 94,523,417	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,342,192	T1547A	probably benign	Het
Rif1	T	C	2: 52,111,588	S1685P	probably benign	Het
Rnf213	T	C	11: 119,470,210	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,756,521	D229G	probably benign	Het
Serpina3j	T	C	12: 104,314,819	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,213,244		probably benign	Het
Sorbs2	A	G	8: 45,796,310	D847G	probably damaging	Het
Steap4	T	C	5: 7,977,030		probably benign	Het
Tg	A	C	15: 66,717,208	T13P	probably damaging	Het
Timeless	T	A	10: 128,244,673	Y474*	probably null	Het
Tmem94	T	C	11: 115,792,060		probably null	Het
Trdmt1	G	A	2: 13,516,648		probably benign	Het
Trim23	T	C	13: 104,201,309	Y522H	probably benign	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Txnl1	A	G	18: 63,692,064		probably benign	Het
Unkl	T	C	17: 25,208,083		probably benign	Het
Usp54	T	A	14: 20,589,369		probably benign	Het
Vcam1	T	C	3: 116,117,259	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,072,666	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,466	K495E	probably benign	Het
Wrnip1	G	A	13: 32,821,090	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,933,547	R660G	probably benign	Het
Zfp280c	A	G	X: 48,548,703		probably benign	Het
Zfp707	G	A	15: 75,975,129	A291T	possibly damaging	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
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
R7601: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

2014-07-28