Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Nop58'

505417

Institutional Source

Beutler Lab

Gene Symbol

Nop58

Ensembl Gene

ENSMUSG00000026020

Gene Name

NOP58 ribonucleoprotein

Synonyms

SIK similar protein, MSSP, Nol5

MMRRC Submission

044435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59724134-59750669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59742014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 181 (M181K)

Ref Sequence

ENSEMBL: ENSMUSP00000140250 (fasta)

Gene Model

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

AlphaFold

Q6DFW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000027174
AA Change: M181K

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

SMART Domains

Protein: ENSMUSP00000027174
Gene: ENSMUSG00000026020
AA Change: M181K

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: ENSMUST00000191142
AA Change: M181K

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

SMART Domains

Protein: ENSMUSP00000140250
Gene: ENSMUSG00000026020
AA Change: M181K

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

probably damaging
Transcript: ENSMUST00000190265
AA Change: M51K

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

SMART Domains

Protein: ENSMUSP00000141100
Gene: ENSMUSG00000026020
AA Change: M51K

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: ENSMUST00000189919
AA Change: M106K

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

noncoding transcript
Transcript: ENSMUST00000190759

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	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
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
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'- TACCTGGCTCCATGGGTAAAGG -3'
(R):5'- CAATAATCTTGGCTATCTGGTTCAG -3'

Sequencing Primer
(F):5'- CCATGGGTAAAGGGTATAAGATACTC -3'
(R):5'- AATTTGCATTCGAGGCCAGC -3'

Posted On

2018-02-28