Mutagenetix > Incidental Mutation

Incidental Mutation 'R7600:Sp110'

587947

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

MMRRC Submission

045642-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R7600 (G1)

Quality Score

201.009

Status

Not validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85506813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 417 (R417C)

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: R417C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: R417C

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,854 (GRCm39)	V707I	probably benign	Het
Ahnak	A	T	19: 8,981,938 (GRCm39)	D1074V	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,315 (GRCm39)	M495V	probably benign	Het
Atxn1	T	G	13: 45,710,536 (GRCm39)	K799Q	possibly damaging	Het
Catsperg2	A	T	7: 29,404,283 (GRCm39)	S831T	probably benign	Het
Cldn1	T	C	16: 26,179,669 (GRCm39)	T133A	probably benign	Het
Clec12b	A	G	6: 129,353,226 (GRCm39)	C254R	probably damaging	Het
Cnnm2	A	T	19: 46,750,506 (GRCm39)	T99S	probably benign	Het
Col6a4	T	G	9: 105,944,198 (GRCm39)	D1092A	possibly damaging	Het
Dnajc9	A	G	14: 20,438,793 (GRCm39)	L20P	probably damaging	Het
Dsp	C	A	13: 38,375,691 (GRCm39)	Q1159K	probably damaging	Het
Dst	C	T	1: 34,306,011 (GRCm39)	T4110I	probably damaging	Het
Epb42	A	G	2: 120,852,307 (GRCm39)	L562P	probably damaging	Het
Fras1	T	C	5: 96,832,295 (GRCm39)	Y1543H	probably damaging	Het
Igkv1-117	T	A	6: 68,098,100 (GRCm39)	V9E	possibly damaging	Het
Kbtbd8	T	A	6: 95,099,573 (GRCm39)	Y361N	probably damaging	Het
Lrp1	C	T	10: 127,391,575 (GRCm39)	R2948H	probably benign	Het
Lrp10	G	T	14: 54,706,852 (GRCm39)	R563L	possibly damaging	Het
Mllt3	G	T	4: 87,759,456 (GRCm39)	H197Q	probably benign	Het
Myo18b	G	A	5: 113,025,969 (GRCm39)	P27L	unknown	Het
Nlrp1a	C	A	11: 70,989,740 (GRCm39)	R1110L	probably damaging	Het
Nol10	T	G	12: 17,419,481 (GRCm39)	D257E	probably damaging	Het
Olfm3	T	C	3: 114,890,589 (GRCm39)	V114A	possibly damaging	Het
Or2a57	C	A	6: 43,212,770 (GRCm39)	T76K	probably damaging	Het
Or2t43	T	C	11: 58,458,162 (GRCm39)	N3S	probably benign	Het
Pdzd2	G	T	15: 12,372,820 (GRCm39)	D2438E	probably damaging	Het
Prl7a2	T	G	13: 27,843,264 (GRCm39)	I180L	possibly damaging	Het
Ptch2	A	T	4: 116,953,422 (GRCm39)		probably benign	Het
Snrpn	A	G	7: 59,638,351 (GRCm39)	M1T	probably null	Het
Sntb1	A	T	15: 55,655,584 (GRCm39)	W211R	possibly damaging	Het
Sytl2	T	C	7: 90,025,352 (GRCm39)	S447P	probably benign	Het
Tas2r129	G	T	6: 132,928,137 (GRCm39)	G25*	probably null	Het
Tcstv7a	A	T	13: 120,290,232 (GRCm39)		probably null	Het
Tle2	T	G	10: 81,422,147 (GRCm39)	Y396*	probably null	Het
Trpm2	T	C	10: 77,773,885 (GRCm39)	K510R	probably benign	Het
Trpm3	A	G	19: 22,903,458 (GRCm39)	T1073A	possibly damaging	Het
Ttc24	A	T	3: 87,979,320 (GRCm39)	M1K	probably null	Het
Tubgcp5	A	G	7: 55,458,261 (GRCm39)	T391A	probably benign	Het
Vmn1r17	T	C	6: 57,337,906 (GRCm39)	E153G	probably benign	Het
Vmn1r232	A	T	17: 21,133,999 (GRCm39)	N200K	possibly damaging	Het
Zcwpw1	A	T	5: 137,798,396 (GRCm39)	K198*	probably null	Het
Zfp142	A	G	1: 74,612,827 (GRCm39)	V641A	probably damaging	Het
Zfp318	C	T	17: 46,695,210 (GRCm39)	A149V	possibly damaging	Het
Zfp608	T	C	18: 55,121,092 (GRCm39)	N165S	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
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
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

2019-10-24