Mutagenetix > Incidental Mutation

Incidental Mutation 'R4565:Sp110'

381251

Institutional Source

Beutler Lab

Gene Symbol

Sp110

Ensembl Gene

ENSMUSG00000070034

Gene Name

Sp110 nuclear body protein

Synonyms

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

MMRRC Submission

041790-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R4565 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85504620-85526538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 85516839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 219 (E219D)

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: E219D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000091226
Gene: ENSMUSG00000070034
AA Change: E219D

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

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,375,806 (GRCm39)		probably benign	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Afg3l1	A	T	8: 124,228,608 (GRCm39)	K725*	probably null	Het
Alkbh1	T	C	12: 87,478,236 (GRCm39)	D225G	probably damaging	Het
Anxa2	A	T	9: 69,397,019 (GRCm39)	K241M	probably damaging	Het
Bptf	G	A	11: 106,963,836 (GRCm39)	T1786M	probably damaging	Het
Cnst	A	G	1: 179,432,114 (GRCm39)	E208G	probably damaging	Het
Dcdc2b	T	C	4: 129,504,778 (GRCm39)	T118A	probably benign	Het
Dhx35	C	A	2: 158,691,455 (GRCm39)	A646E	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnhd1	T	A	7: 105,301,163 (GRCm39)	D173E	possibly damaging	Het
Dpy19l1	A	T	9: 24,343,684 (GRCm39)	L487Q	probably null	Het
Gtse1	T	G	15: 85,759,385 (GRCm39)	V631G	probably damaging	Het
Haspin	G	A	11: 73,028,445 (GRCm39)	L215F	probably benign	Het
Herc2	T	C	7: 55,803,586 (GRCm39)	V2207A	possibly damaging	Het
Jph1	A	G	1: 17,074,426 (GRCm39)	Y531H	possibly damaging	Het
Limk2	A	G	11: 3,298,634 (GRCm39)	I261T	probably damaging	Het
Oas3	A	G	5: 120,909,104 (GRCm39)	F281L	probably damaging	Het
Or2a25	A	T	6: 42,888,472 (GRCm39)	Q5L	probably benign	Het
Or7a40	C	A	16: 16,491,557 (GRCm39)	G96V	probably damaging	Het
Pcdhb17	A	G	18: 37,619,523 (GRCm39)	T438A	probably benign	Het
Pfdn5	T	C	15: 102,235,220 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,680 (GRCm39)	C158R	possibly damaging	Het
Rbmxl1	G	A	8: 79,232,639 (GRCm39)	P235S	probably benign	Het
Slc9b1	G	T	3: 135,088,478 (GRCm39)	V280F	probably damaging	Het
Trpm3	T	C	19: 22,965,233 (GRCm39)	I1576T	probably benign	Het
Trpm6	T	A	19: 18,803,236 (GRCm39)	V893D	probably damaging	Het
Ttc13	A	T	8: 125,408,826 (GRCm39)	N583K	probably damaging	Het
Zfp618	T	C	4: 63,039,588 (GRCm39)	C396R	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
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'- AGCTATCCCAAGCAAGGTTG -3'
(R):5'- TGCCTTCCTTACTGGTTAGAATCA -3'

Sequencing Primer
(F):5'- GTTGCTAAGAGTTAAGTCAGCC -3'
(R):5'- GGTTAGAATCACTGTTCTCTTTACTG -3'

Posted On

2016-04-25