Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Nop58'

353914

Institutional Source

Beutler Lab

Gene Symbol

Nop58

Ensembl Gene

ENSMUSG00000026020

Gene Name

NOP58 ribonucleoprotein

Synonyms

SIK similar protein, MSSP, Nol5

MMRRC Submission

041982-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59724134-59750669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59735185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 75 (V75A)

Ref Sequence

ENSEMBL: ENSMUSP00000140250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027174] [ENSMUST00000185772] [ENSMUST00000189327] [ENSMUST00000190231] [ENSMUST00000191142] [ENSMUST00000190265]

AlphaFold

Q6DFW4

Predicted Effect

probably benign
Transcript: ENSMUST00000027174
AA Change: V75A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027174
Gene: ENSMUSG00000026020
AA Change: V75A

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	2	66	1.1e-25	PFAM
low complexity region	67	81	N/A	INTRINSIC
NOSIC	161	213	2.68e-29	SMART
low complexity region	218	239	N/A	INTRINSIC
coiled coil region	441	491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185368

Predicted Effect

unknown
Transcript: ENSMUST00000185772
AA Change: V12A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189289

Predicted Effect

probably benign
Transcript: ENSMUST00000189327

SMART Domains

Protein: ENSMUSP00000139517
Gene: ENSMUSG00000026020

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	1	60	2.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190231
AA Change: V12A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000191142
AA Change: V75A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000140250
Gene: ENSMUSG00000026020
AA Change: V75A

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	1	66	3.2e-26	PFAM
low complexity region	67	81	N/A	INTRINSIC
NOSIC	161	213	2.68e-29	SMART
low complexity region	218	239	N/A	INTRINSIC
Pfam:Nop	253	401	2.7e-63	PFAM
coiled coil region	441	491	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191088

Predicted Effect

probably benign
Transcript: ENSMUST00000190265

SMART Domains

Protein: ENSMUSP00000141100
Gene: ENSMUSG00000026020

Domain	Start	End	E-Value	Type
NOSIC	31	83	2.1e-33	SMART
low complexity region	88	109	N/A	INTRINSIC
Pfam:Nop	123	179	5.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189919

Meta Mutation Damage Score

0.1056

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,805,321 (GRCm39)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,217,626 (GRCm39)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,907,706 (GRCm39)	R179*	probably null	Het
Arap2	G	T	5: 62,906,437 (GRCm39)	T194K	probably benign	Het
Atf2	C	A	2: 73,653,644 (GRCm39)	V282F	probably damaging	Het
Atosa	T	A	9: 74,920,250 (GRCm39)	W799R	probably damaging	Het
Atp1a1	T	C	3: 101,499,122 (GRCm39)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,734,376 (GRCm39)	S258G	possibly damaging	Het
Bptf	G	T	11: 106,938,007 (GRCm39)	H2695N	probably damaging	Het
Casq2	T	C	3: 102,017,560 (GRCm39)	V80A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,887 (GRCm39)	A11V	probably benign	Het
Cdh4	A	T	2: 179,422,260 (GRCm39)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,203,755 (GRCm39)	*191L	probably null	Het
Cfdp1	G	A	8: 112,557,523 (GRCm39)	T206I	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Clpx	A	C	9: 65,219,396 (GRCm39)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,889,268 (GRCm39)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,382,535 (GRCm39)	D275V	probably benign	Het
Dip2a	T	C	10: 76,132,240 (GRCm39)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,353,689 (GRCm39)		probably null	Het
Dnaaf5	A	T	5: 139,163,755 (GRCm39)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,584,788 (GRCm39)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,244,118 (GRCm39)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 63,045,530 (GRCm39)	M765L	probably benign	Het
E2f3	A	C	13: 30,095,258 (GRCm39)	C220W	probably damaging	Het
Elf3	C	T	1: 135,185,490 (GRCm39)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,649,775 (GRCm39)	V369E	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,690 (GRCm39)	G267R	probably benign	Het
Ggact	A	T	14: 123,129,047 (GRCm39)	L56Q	possibly damaging	Het
Gm5546	T	C	3: 104,273,824 (GRCm39)		noncoding transcript	Het
Gm8267	A	G	14: 44,955,292 (GRCm39)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,464,836 (GRCm39)	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,660,466 (GRCm39)	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,420,592 (GRCm39)	L146P	probably damaging	Het
Htr1b	T	C	9: 81,513,563 (GRCm39)	D348G	possibly damaging	Het
Ifi205	T	C	1: 173,855,887 (GRCm39)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,969,575 (GRCm39)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,756,281 (GRCm39)	L169P	probably damaging	Het
Klf17	T	C	4: 117,617,733 (GRCm39)	D208G	probably benign	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,058,724 (GRCm39)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,644,329 (GRCm39)	V445A	probably benign	Het
Med11	T	C	11: 70,344,022 (GRCm39)	I114T	probably benign	Het
Moxd2	A	G	6: 40,864,181 (GRCm39)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,773,702 (GRCm39)		probably benign	Het
Mrps27	A	G	13: 99,551,323 (GRCm39)		probably null	Het
Or13p5	T	C	4: 118,591,852 (GRCm39)	L42P	probably damaging	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2t46	A	G	11: 58,472,255 (GRCm39)	D195G	probably damaging	Het
Or4k42	A	C	2: 111,320,089 (GRCm39)	M138R	probably benign	Het
Or7g19	A	G	9: 18,856,742 (GRCm39)	H266R	probably benign	Het
Or7g26	C	A	9: 19,230,443 (GRCm39)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,602 (GRCm39)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,852,690 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,259,366 (GRCm39)	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,025,570 (GRCm39)	T543A	probably benign	Het
Pum2	T	A	12: 8,797,272 (GRCm39)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,740,243 (GRCm39)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,701,355 (GRCm39)	L193P	probably damaging	Het
Rif1	T	C	2: 51,963,151 (GRCm39)		probably benign	Het
Rspo2	A	T	15: 42,939,300 (GRCm39)	C163*	probably null	Het
Sco1	A	G	11: 66,947,425 (GRCm39)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,458,213 (GRCm39)	K490R	probably benign	Het
Siglec1	T	C	2: 130,916,356 (GRCm39)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,763,051 (GRCm39)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,179,893 (GRCm39)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,008,123 (GRCm39)	S988A	probably benign	Het
Tiam2	T	A	17: 3,504,443 (GRCm39)	F982I	probably damaging	Het
Tmc3	G	A	7: 83,271,604 (GRCm39)	V919I	probably benign	Het
Tmed2b	A	T	9: 33,639,784 (GRCm39)		noncoding transcript	Het
Tmem200c	A	T	17: 69,147,465 (GRCm39)	D16V	probably damaging	Het
Tmem37	A	T	1: 119,995,935 (GRCm39)	D47E	probably damaging	Het
Top3a	T	A	11: 60,633,823 (GRCm39)	R733*	probably null	Het
Treh	T	C	9: 44,594,615 (GRCm39)	V8A	probably benign	Het
Trim17	A	C	11: 58,859,276 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,927,896 (GRCm39)	K471E	probably damaging	Het
Usp8	T	A	2: 126,571,142 (GRCm39)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,300,708 (GRCm39)	M1L	unknown	Het
Yju2b	A	G	8: 84,990,503 (GRCm39)	I43T	probably damaging	Het

Other mutations in Nop58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Nop58	APN	1	59,743,242 (GRCm39)	missense	probably damaging	0.98
R0584:Nop58	UTSW	1	59,745,919 (GRCm39)	missense	probably benign	0.00
R1170:Nop58	UTSW	1	59,743,370 (GRCm39)	splice site	probably benign
R1177:Nop58	UTSW	1	59,740,091 (GRCm39)	missense	probably damaging	1.00
R1485:Nop58	UTSW	1	59,737,504 (GRCm39)	missense	probably damaging	0.98
R1588:Nop58	UTSW	1	59,742,031 (GRCm39)	missense	probably damaging	1.00
R5611:Nop58	UTSW	1	59,749,672 (GRCm39)	unclassified	probably benign
R5933:Nop58	UTSW	1	59,743,824 (GRCm39)	nonsense	probably null
R5979:Nop58	UTSW	1	59,741,990 (GRCm39)	missense	probably damaging	1.00
R6010:Nop58	UTSW	1	59,740,071 (GRCm39)	missense	probably damaging	1.00
R6244:Nop58	UTSW	1	59,742,014 (GRCm39)	missense	probably damaging	1.00
R6371:Nop58	UTSW	1	59,750,471 (GRCm39)	unclassified	probably benign
R7210:Nop58	UTSW	1	59,749,539 (GRCm39)	splice site	probably null
R7337:Nop58	UTSW	1	59,737,599 (GRCm39)	missense	probably benign	0.00
R7582:Nop58	UTSW	1	59,740,097 (GRCm39)	missense	probably damaging	0.99
R7704:Nop58	UTSW	1	59,744,754 (GRCm39)	missense	probably damaging	1.00
R8931:Nop58	UTSW	1	59,731,549 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGATTAAAGGTGTGCGCC -3'
(R):5'- AATACTACAAAGAGCAGGCTTAGC -3'

Sequencing Primer
(F):5'- ACCATGCCTAGCCATGAGTTG -3'
(R):5'- CTTAGCAGCTCTAAAAGGCCTGG -3'

Posted On

2015-10-21