Mutagenetix > Incidental Mutation

Incidental Mutation 'R6371:Nop58'

513504

Institutional Source

Beutler Lab

Gene Symbol

Nop58

Ensembl Gene

ENSMUSG00000026020

Gene Name

NOP58 ribonucleoprotein

Synonyms

SIK similar protein, MSSP, Nol5

MMRRC Submission

044521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59724134-59750669 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 59750471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141100 (fasta)

Gene Model

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

AlphaFold

Q6DFW4

Predicted Effect

unknown
Transcript: ENSMUST00000027174
AA Change: L437R

SMART Domains

Protein: ENSMUSP00000027174
Gene: ENSMUSG00000026020
AA Change: L437R

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

probably benign
Transcript: ENSMUST00000187491

Predicted Effect

probably benign
Transcript: ENSMUST00000187837

Predicted Effect

probably benign
Transcript: ENSMUST00000188390

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

silent
Transcript: ENSMUST00000191142

SMART Domains

Protein: ENSMUSP00000140250
Gene: ENSMUSG00000026020

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,894 (GRCm39)	S237L	probably damaging	Het
Ank3	T	G	10: 69,644,709 (GRCm39)	L58V	probably damaging	Het
Arsb	A	T	13: 93,926,574 (GRCm39)	I115F	possibly damaging	Het
Atad2b	T	C	12: 5,023,970 (GRCm39)	Y32H	probably damaging	Het
Brd1	A	C	15: 88,598,201 (GRCm39)	M515R	probably benign	Het
Cbx7	A	G	15: 79,803,023 (GRCm39)	S30P	possibly damaging	Het
Cdk12	A	G	11: 98,136,114 (GRCm39)	T1123A	unknown	Het
Cep170b	A	G	12: 112,707,379 (GRCm39)	D375G	probably damaging	Het
Clcn3	T	C	8: 61,390,369 (GRCm39)	K164E	probably benign	Het
Clip4	A	C	17: 72,163,459 (GRCm39)	K677T	probably damaging	Het
Clrn2	T	C	5: 45,617,540 (GRCm39)	I137T	possibly damaging	Het
Cntln	T	C	4: 84,802,816 (GRCm39)	S39P	probably damaging	Het
Crocc2	T	A	1: 93,143,353 (GRCm39)	N1318K	probably benign	Het
Emc1	C	T	4: 139,098,976 (GRCm39)	Q820*	probably null	Het
Fbxl2	G	A	9: 113,818,451 (GRCm39)	T170I	probably damaging	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Garin5b	A	G	7: 4,762,358 (GRCm39)	V257A	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Hspg2	T	C	4: 137,269,006 (GRCm39)	Y2213H	probably damaging	Het
Ifnar2	T	C	16: 91,184,986 (GRCm39)	Y24H	possibly damaging	Het
Inpp5d	T	A	1: 87,627,397 (GRCm39)	L566Q	probably damaging	Het
Itgb2	C	A	10: 77,384,431 (GRCm39)	P184H	probably damaging	Het
Kcnb2	T	A	1: 15,781,436 (GRCm39)	D769E	probably benign	Het
Lrp1b	A	G	2: 40,741,666 (GRCm39)	M3087T	possibly damaging	Het
Ltbp3	A	G	19: 5,795,800 (GRCm39)		probably null	Het
Ms4a6b	A	G	19: 11,497,728 (GRCm39)	E9G	probably damaging	Het
Nat3	G	A	8: 67,976,831 (GRCm39)		probably null	Het
Ndufaf1	A	T	2: 119,490,534 (GRCm39)	D175E	probably damaging	Het
Or10al6	A	G	17: 38,083,326 (GRCm39)	T261A	probably benign	Het
Or8s16	A	G	15: 98,211,219 (GRCm39)	Y71H	possibly damaging	Het
P3h4	C	T	11: 100,302,575 (GRCm39)	E354K	probably benign	Het
Plekhm2	T	G	4: 141,356,843 (GRCm39)	T787P	possibly damaging	Het
Ppia	C	T	11: 6,368,230 (GRCm39)	T37I	probably benign	Het
Reln	T	A	5: 22,200,511 (GRCm39)	M1330L	probably benign	Het
Ric1	A	G	19: 29,539,426 (GRCm39)	E53G	probably benign	Het
Sgip1	T	A	4: 102,823,482 (GRCm39)	V721E	probably damaging	Het
Slc33a1	A	T	3: 63,850,709 (GRCm39)	D538E	probably benign	Het
Son	T	C	16: 91,471,629 (GRCm39)			Het
Srebf1	A	T	11: 60,094,341 (GRCm39)	S591R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Taok2	G	A	7: 126,469,319 (GRCm39)	R1170W	probably damaging	Het
Tsc2	A	T	17: 24,845,688 (GRCm39)	V210E	probably benign	Het
Ttc6	T	A	12: 57,775,249 (GRCm39)	N1648K	possibly damaging	Het
Vgll3	C	T	16: 65,636,131 (GRCm39)	P94L	probably damaging	Het
Vmn2r54	A	T	7: 12,349,362 (GRCm39)	V740E	probably damaging	Het
Yeats2	A	G	16: 20,040,460 (GRCm39)	E1127G	possibly damaging	Het
Zfp709	T	A	8: 72,643,329 (GRCm39)	Y252N	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
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
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'- ACTGAAGCTTGCTTTGTTGAC -3'
(R):5'- CATAGAAAGGGCTAAAGATTCTCTGC -3'

Sequencing Primer
(F):5'- GAAGCTTGCTTTGTTGACATTACAG -3'
(R):5'- GCTAGATATTCAACCTCCCT -3'

Posted On

2018-04-27