Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Nop56'

545891

Institutional Source

Beutler Lab

Gene Symbol

Nop56

Ensembl Gene

ENSMUSG00000027405

Gene Name

NOP56 ribonucleoprotein

Synonyms

NOP56, Nol5a, 2310044F10Rik, 56kDa with KKE/D repeat

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130274430-130279313 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 130277881 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 81 (R81*)

Ref Sequence

ENSEMBL: ENSMUSP00000124080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028890] [ENSMUST00000028892] [ENSMUST00000103198] [ENSMUST00000136621] [ENSMUST00000159373] [ENSMUST00000184538]

Predicted Effect

probably null
Transcript: ENSMUST00000028890
AA Change: R114*

SMART Domains

Protein: ENSMUSP00000028890
Gene: ENSMUSG00000027405
AA Change: R114*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Nop	44	127	1.1e-26	PFAM
coiled coil region	131	176	N/A	INTRINSIC
low complexity region	185	204	N/A	INTRINSIC
low complexity region	213	228	N/A	INTRINSIC
low complexity region	242	264	N/A	INTRINSIC
low complexity region	280	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028892

SMART Domains

Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
Iso_dh	49	375	1.43e-140	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103198
AA Change: R398*

SMART Domains

Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405
AA Change: R398*

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	5	70	4.3e-20	PFAM
NOSIC	167	219	1.18e-30	SMART
internal_repeat_1	257	305	4.06e-5	PROSPERO
coiled coil region	415	460	N/A	INTRINSIC
low complexity region	469	488	N/A	INTRINSIC
low complexity region	497	512	N/A	INTRINSIC
low complexity region	526	548	N/A	INTRINSIC
low complexity region	564	576	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136621

SMART Domains

Protein: ENSMUSP00000124616
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	4	70	3.6e-22	PFAM
NOSIC	167	219	1.18e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141872

SMART Domains

Protein: ENSMUSP00000125305
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
Pfam:NOP5NT	14	79	3.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143547

Predicted Effect

probably null
Transcript: ENSMUST00000146454
AA Change: R142*

SMART Domains

Protein: ENSMUSP00000125304
Gene: ENSMUSG00000027405
AA Change: R142*

Domain	Start	End	E-Value	Type
Pfam:Nop	1	152	7.8e-66	PFAM
coiled coil region	159	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149955

SMART Domains

Protein: ENSMUSP00000123879
Gene: ENSMUSG00000027405

Domain	Start	End	E-Value	Type
NOSIC	2	35	1.24e-6	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000150401
AA Change: R93*

SMART Domains

Protein: ENSMUSP00000123890
Gene: ENSMUSG00000027405
AA Change: R93*

Domain	Start	End	E-Value	Type
Pfam:Nop	26	103	3.9e-26	PFAM
coiled coil region	110	155	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159373
AA Change: R81*

SMART Domains

Protein: ENSMUSP00000124080
Gene: ENSMUSG00000027405
AA Change: R81*

Domain	Start	End	E-Value	Type
Pfam:Nop	10	94	6e-28	PFAM
coiled coil region	98	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184538

SMART Domains

Protein: ENSMUSP00000139331
Gene: ENSMUSG00000027406

Domain	Start	End	E-Value	Type
Pfam:Iso_dh	6	71	1.8e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh7	C	A	14: 54,974,644	E1548*	probably null	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Nop56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Nop56	APN	2	130275995	missense	possibly damaging	0.77
IGL02330:Nop56	APN	2	130276766	missense	probably damaging	0.99
IGL02939:Nop56	APN	2	130278197	missense	probably damaging	1.00
IGL03149:Nop56	APN	2	130277525	missense	probably damaging	1.00
bookish	UTSW	2	130276772	missense	possibly damaging	0.96
escholar	UTSW	2	130277887	missense	probably damaging	1.00
scholar	UTSW	2	130275982	missense	probably damaging	1.00
IGL03046:Nop56	UTSW	2	130275569	unclassified	probably benign
R0421:Nop56	UTSW	2	130276772	missense	possibly damaging	0.96
R1405:Nop56	UTSW	2	130277948	missense	probably benign	0.22
R1405:Nop56	UTSW	2	130277948	missense	probably benign	0.22
R1713:Nop56	UTSW	2	130277966	missense	possibly damaging	0.85
R2202:Nop56	UTSW	2	130277568	missense	probably damaging	1.00
R2203:Nop56	UTSW	2	130277568	missense	probably damaging	1.00
R2204:Nop56	UTSW	2	130277568	missense	probably damaging	1.00
R3697:Nop56	UTSW	2	130277587	missense	probably damaging	1.00
R4114:Nop56	UTSW	2	130276673	splice site	probably null
R4679:Nop56	UTSW	2	130278273	missense	probably benign	0.36
R4788:Nop56	UTSW	2	130278900	missense	probably benign	0.05
R4792:Nop56	UTSW	2	130277864	missense	possibly damaging	0.96
R4999:Nop56	UTSW	2	130275725	missense	probably benign	0.00
R5889:Nop56	UTSW	2	130275982	missense	probably damaging	1.00
R6016:Nop56	UTSW	2	130276625	critical splice donor site	probably null
R6389:Nop56	UTSW	2	130277887	missense	probably damaging	1.00
R7393:Nop56	UTSW	2	130274638	missense	probably benign	0.06
R7867:Nop56	UTSW	2	130278285	missense	possibly damaging	0.53
R8026:Nop56	UTSW	2	130277268	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCAGCTTCTACAATGATGG -3'
(R):5'- AGTCTTGCTGGATCAGGCTC -3'

Sequencing Primer
(F):5'- GGTAATATTTTTCGTCAACAGAGTTC -3'
(R):5'- GCTGGATCAGGCTCATTAAATCAG -3'

Posted On

2019-05-13