Mutagenetix > Incidental Mutation

Incidental Mutation 'R1588:Nop58'

177610

Institutional Source

Beutler Lab

Gene Symbol

Nop58

Ensembl Gene

ENSMUSG00000026020

Gene Name

NOP58 ribonucleoprotein

Synonyms

SIK similar protein, MSSP, Nol5

MMRRC Submission

039625-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1588 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59724134-59750669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59742031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 187 (Y187N)

Ref Sequence

ENSEMBL: ENSMUSP00000140250 (fasta)

Gene Model

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

AlphaFold

Q6DFW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027174
AA Change: Y187N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027174
Gene: ENSMUSG00000026020
AA Change: Y187N

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: ENSMUST00000158468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185368

Predicted Effect

probably benign
Transcript: ENSMUST00000187491

Predicted Effect

probably benign
Transcript: ENSMUST00000187837

Predicted Effect

probably benign
Transcript: ENSMUST00000188390

Predicted Effect

probably damaging
Transcript: ENSMUST00000190265
AA Change: Y57N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141100
Gene: ENSMUSG00000026020
AA Change: Y57N

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 damaging
Transcript: ENSMUST00000191142
AA Change: Y187N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140250
Gene: ENSMUSG00000026020
AA Change: Y187N

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

unknown
Transcript: ENSMUST00000189919
AA Change: Y112N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190759

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,771,484 (GRCm39)	V869A	probably benign	Het
Ablim1	C	T	19: 57,071,979 (GRCm39)	M1I	probably null	Het
Adamts13	A	T	2: 26,865,687 (GRCm39)	I81F	probably benign	Het
Akap11	A	T	14: 78,747,685 (GRCm39)	N1567K	possibly damaging	Het
Arrdc4	G	A	7: 68,391,484 (GRCm39)	T261M	possibly damaging	Het
C4b	T	C	17: 34,959,999 (GRCm39)	I326V	probably benign	Het
Casp8ap2	G	A	4: 32,640,541 (GRCm39)	A532T	probably benign	Het
Ccdc134	A	G	15: 82,019,337 (GRCm39)	T187A	probably benign	Het
Cdh8	T	C	8: 99,917,039 (GRCm39)	N359D	probably damaging	Het
Cep97	A	G	16: 55,748,184 (GRCm39)	L82P	probably damaging	Het
Cfap53	A	T	18: 74,440,444 (GRCm39)	R404S	probably benign	Het
Chrng	C	A	1: 87,135,229 (GRCm39)	F179L	probably damaging	Het
Ddi1	A	T	9: 6,265,391 (GRCm39)	I326K	probably damaging	Het
Decr2	T	C	17: 26,302,002 (GRCm39)	T243A	possibly damaging	Het
Dip2c	T	C	13: 9,715,900 (GRCm39)	V1502A	probably damaging	Het
Edem1	T	C	6: 108,818,640 (GRCm39)	V216A	probably damaging	Het
Fat2	A	C	11: 55,174,230 (GRCm39)	V2161G	probably damaging	Het
Fbn1	T	C	2: 125,161,034 (GRCm39)	T2169A	probably benign	Het
Fmn1	T	C	2: 113,196,043 (GRCm39)	V581A	unknown	Het
Hip1r	A	T	5: 124,134,638 (GRCm39)	D350V	probably damaging	Het
Ift140	G	A	17: 25,306,959 (GRCm39)	R898H	probably damaging	Het
Il12a	A	G	3: 68,602,896 (GRCm39)	I159V	probably benign	Het
Itprid1	A	G	6: 55,955,488 (GRCm39)	E1032G	possibly damaging	Het
Kl	A	G	5: 150,906,097 (GRCm39)	E489G	probably benign	Het
Klhl3	T	C	13: 58,161,712 (GRCm39)	E461G	probably damaging	Het
Masp1	T	C	16: 23,313,404 (GRCm39)	Y177C	probably damaging	Het
Npc1l1	A	G	11: 6,167,785 (GRCm39)	V1002A	probably benign	Het
Ntaq1	T	A	15: 58,021,285 (GRCm39)		probably null	Het
Ntrk1	A	T	3: 87,687,384 (GRCm39)	Y683*	probably null	Het
Or11g26	A	G	14: 50,753,584 (GRCm39)	I308V	probably benign	Het
Or13j1	C	T	4: 43,705,923 (GRCm39)	C215Y	probably damaging	Het
Or2w4	C	T	13: 21,796,083 (GRCm39)	D19N	probably benign	Het
Or8k21	T	C	2: 86,144,874 (GRCm39)	Y252C	probably damaging	Het
Osbpl6	T	C	2: 76,409,560 (GRCm39)	V367A	probably benign	Het
Phip	A	G	9: 82,782,881 (GRCm39)	W855R	probably damaging	Het
Phlpp1	A	G	1: 106,308,115 (GRCm39)	S1131G	probably damaging	Het
Pkdrej	A	T	15: 85,701,442 (GRCm39)	V1498E	probably benign	Het
Pramel22	G	T	4: 143,382,121 (GRCm39)	L192M	probably damaging	Het
Prkaa2	T	C	4: 104,908,420 (GRCm39)	N152D	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pxdn	G	A	12: 30,052,558 (GRCm39)	V732M	probably damaging	Het
Rccd1	C	T	7: 79,969,859 (GRCm39)	W223*	probably null	Het
Riox2	T	A	16: 59,295,946 (GRCm39)	S16T	possibly damaging	Het
Scn5a	C	T	9: 119,350,367 (GRCm39)	V836I	probably damaging	Het
Serpinf1	G	A	11: 75,301,076 (GRCm39)	R380C	probably damaging	Het
Sf3b1	A	T	1: 55,036,336 (GRCm39)	N912K	probably benign	Het
Shprh	T	A	10: 11,040,488 (GRCm39)	C134S	probably damaging	Het
Skint8	T	A	4: 111,785,924 (GRCm39)	C123*	probably null	Het
Slc16a13	G	T	11: 70,109,421 (GRCm39)	S360*	probably null	Het
Srr	A	G	11: 74,799,629 (GRCm39)	I282T	possibly damaging	Het
Trpm1	T	C	7: 63,873,565 (GRCm39)	F607L	possibly damaging	Het
Ttn	T	C	2: 76,539,870 (GRCm39)	D34372G	probably benign	Het
Tub	C	T	7: 108,628,888 (GRCm39)	T401I	probably damaging	Het
Wdhd1	T	C	14: 47,493,693 (GRCm39)	E9G	probably damaging	Het
Yipf3	T	A	17: 46,561,787 (GRCm39)	F198Y	possibly damaging	Het
Zfp955a	C	T	17: 33,460,791 (GRCm39)	R447K	probably benign	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
R4715:Nop58	UTSW	1	59,735,185 (GRCm39)	missense	probably benign	0.00
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'- CCCAAAGTGGGTCTTACCTATCCAGT -3'
(R):5'- ttcaaaaCGCAGAATCAAACCAAACCA -3'

Sequencing Primer
(F):5'- caagttatcaagataggcagcaag -3'
(R):5'- AAACCAAACCACAAAGTAAATGTTC -3'

Posted On

2014-04-24