Mutagenetix > Incidental Mutation

Incidental Mutation 'R5611:Nop58'

457993

Institutional Source

Beutler Lab

Gene Symbol

Nop58

Ensembl Gene

ENSMUSG00000026020

Gene Name

NOP58 ribonucleoprotein

Synonyms

SIK similar protein, MSSP, Nol5

MMRRC Submission

043273-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5611 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59724134-59750669 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 59749672 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

probably benign
Transcript: ENSMUST00000027174

SMART Domains

Protein: ENSMUSP00000027174
Gene: ENSMUSG00000026020

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

unknown
Transcript: ENSMUST00000187837
AA Change: M163K

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

unknown
Transcript: ENSMUST00000191142
AA Change: M474K

SMART Domains

Protein: ENSMUSP00000140250
Gene: ENSMUSG00000026020
AA Change: M474K

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	C	11: 48,910,828 (GRCm39)	T535R	possibly damaging	Het
Adam34	A	T	8: 44,104,749 (GRCm39)	F299I	probably benign	Het
Adamts20	A	G	15: 94,171,161 (GRCm39)	M1854T	possibly damaging	Het
Adrm1b	G	A	3: 92,335,758 (GRCm39)	P315S	probably damaging	Het
Apbb1	A	G	7: 105,208,690 (GRCm39)	V581A	probably damaging	Het
Apol6	T	A	15: 76,935,240 (GRCm39)		probably null	Het
Arhgef37	T	C	18: 61,640,334 (GRCm39)	T242A	probably benign	Het
Asxl2	T	C	12: 3,534,598 (GRCm39)	V265A	probably damaging	Het
Bicd1	A	T	6: 149,414,954 (GRCm39)	R556*	probably null	Het
C2	A	G	17: 35,091,360 (GRCm39)	I101T	probably damaging	Het
Cd22	T	A	7: 30,577,575 (GRCm39)		probably benign	Het
Cd33	T	C	7: 43,181,542 (GRCm39)	H206R	probably damaging	Het
Cd5l	G	A	3: 87,275,082 (GRCm39)	G207D	possibly damaging	Het
Chrd	A	T	16: 20,557,724 (GRCm39)	D774V	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Csn1s1	A	T	5: 87,825,503 (GRCm39)		probably null	Het
Dpyd	G	A	3: 118,987,942 (GRCm39)	V704I	probably benign	Het
Dscc1	C	A	15: 54,945,569 (GRCm39)	Q312H	probably benign	Het
Dysf	A	T	6: 84,041,860 (GRCm39)	T154S	probably damaging	Het
Foxi2	T	C	7: 135,013,433 (GRCm39)	V221A	probably benign	Het
Gabbr2	A	T	4: 46,804,105 (GRCm39)	I250N	probably damaging	Het
Gfap	T	A	11: 102,787,895 (GRCm39)	T17S	probably benign	Het
Hcrtr2	A	G	9: 76,230,596 (GRCm39)	V64A	probably damaging	Het
Igkv4-86	A	G	6: 68,887,659 (GRCm39)	S27P	probably damaging	Het
Kalrn	G	T	16: 33,996,150 (GRCm39)	F903L	probably damaging	Het
Lrrc31	A	G	3: 30,745,304 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,314,219 (GRCm39)	T656A	probably benign	Het
Mss51	G	T	14: 20,533,174 (GRCm39)	S432R	possibly damaging	Het
Mzf1	A	G	7: 12,778,554 (GRCm39)		probably benign	Het
Or10al5	A	T	17: 38,062,975 (GRCm39)	I77F	possibly damaging	Het
Otogl	T	C	10: 107,622,630 (GRCm39)	E1652G	probably damaging	Het
Pikfyve	C	A	1: 65,295,247 (GRCm39)	N1459K	probably damaging	Het
Pkn3	G	A	2: 29,969,673 (GRCm39)	G61D	probably damaging	Het
Plekha4	T	C	7: 45,203,065 (GRCm39)	S581P	probably benign	Het
Ppm1g	A	G	5: 31,363,441 (GRCm39)	F256L	probably damaging	Het
Proser1	A	G	3: 53,386,296 (GRCm39)	N726S	probably benign	Het
Rapgef1	A	G	2: 29,592,448 (GRCm39)	D480G	probably damaging	Het
Reln	G	A	5: 22,244,663 (GRCm39)	Q772*	probably null	Het
Sh3gl2	T	C	4: 85,273,568 (GRCm39)	V40A	probably benign	Het
Slc22a23	G	A	13: 34,489,222 (GRCm39)	T221I	probably benign	Het
Slc22a28	T	A	19: 8,040,698 (GRCm39)	T518S	probably damaging	Het
Slc4a1ap	A	G	5: 31,711,173 (GRCm39)		probably benign	Het
St8sia4	T	C	1: 95,555,409 (GRCm39)	D207G	probably damaging	Het
Syde1	T	A	10: 78,421,725 (GRCm39)	T609S	probably benign	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tle4	T	C	19: 14,427,159 (GRCm39)	D754G	probably damaging	Het
Ttn	C	T	2: 76,562,869 (GRCm39)	W26949*	probably null	Het
Vmn1r222	A	C	13: 23,416,743 (GRCm39)	S157A	probably damaging	Het
Vmn1r51	T	A	6: 90,106,692 (GRCm39)	L203M	probably benign	Het
Vmn1r6	T	C	6: 56,979,362 (GRCm39)	L8P	probably damaging	Het
Vmn2r103	A	G	17: 20,013,904 (GRCm39)	D232G	probably damaging	Het
Vmn2r17	T	A	5: 109,576,030 (GRCm39)	D300E	probably damaging	Het
Vmn2r66	T	A	7: 84,654,951 (GRCm39)	K453*	probably null	Het
Vps13a	A	T	19: 16,702,936 (GRCm39)	D672E	probably damaging	Het
Vps54	A	G	11: 21,261,130 (GRCm39)	N599S	possibly damaging	Het
Zc3h13	A	T	14: 75,568,348 (GRCm39)	N1214Y	probably benign	Het
Zc3h18	T	G	8: 123,135,109 (GRCm39)		probably null	Het
Zfp51	A	G	17: 21,684,354 (GRCm39)	E323G	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
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

Posted On

2017-02-16