Mutagenetix > Incidental Mutation

Incidental Mutation 'R4114:Nop56'

314538

Institutional Source

Beutler Lab

Gene Symbol

Nop56

Ensembl Gene

ENSMUSG00000027405

Gene Name

NOP56 ribonucleoprotein

Synonyms

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

MMRRC Submission

040990-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4114 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130116350-130121233 bp(+) (GRCm39)

Type of Mutation

splice site (2636 bp from exon)

DNA Base Change (assembly)

T to C at 130118593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028892 (fasta)

Gene Model

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

AlphaFold

Q9D6Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000028890

SMART Domains

Protein: ENSMUSP00000028890
Gene: ENSMUSG00000027405

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 null
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

noncoding transcript
Transcript: ENSMUST00000083338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083355

Predicted Effect

probably benign
Transcript: ENSMUST00000103198

SMART Domains

Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405

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

noncoding transcript
Transcript: ENSMUST00000116960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145335

Predicted Effect

probably benign
Transcript: ENSMUST00000150401

SMART Domains

Protein: ENSMUSP00000123890
Gene: ENSMUSG00000027405

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 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: ENSMUST00000159373

SMART Domains

Protein: ENSMUSP00000124080
Gene: ENSMUSG00000027405

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: ENSMUST00000143547

Predicted Effect

probably benign
Transcript: ENSMUST00000146454

SMART Domains

Protein: ENSMUSP00000125304
Gene: ENSMUSG00000027405

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

noncoding transcript
Transcript: ENSMUST00000162063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175746

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (37/37)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	G	11: 117,693,793 (GRCm39)	S87A	probably damaging	Het
Abca16	T	C	7: 120,126,290 (GRCm39)	F1149L	probably benign	Het
Abcf1	A	T	17: 36,270,146 (GRCm39)	D637E	probably benign	Het
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Cdh23	A	G	10: 60,256,819 (GRCm39)		probably null	Het
Cep44	T	C	8: 56,998,457 (GRCm39)	T74A	probably benign	Het
Colq	T	A	14: 31,279,824 (GRCm39)	M1L	probably benign	Het
Cym	A	T	3: 107,127,065 (GRCm39)	L30Q	probably damaging	Het
Dpp6	T	A	5: 27,674,485 (GRCm39)		probably null	Het
Gbe1	G	T	16: 70,280,715 (GRCm39)	G372V	possibly damaging	Het
Hdc	T	A	2: 126,443,738 (GRCm39)	M314L	probably benign	Het
Ino80b	A	G	6: 83,101,121 (GRCm39)	S149P	probably benign	Het
Itpr2	C	T	6: 146,327,008 (GRCm39)	V120I	probably damaging	Het
Morc3	G	A	16: 93,670,227 (GRCm39)	D801N	probably benign	Het
Mpped1	A	G	15: 83,680,910 (GRCm39)		probably benign	Het
Nek5	G	A	8: 22,601,178 (GRCm39)	T181M	probably damaging	Het
Nlrp4a	T	G	7: 26,149,365 (GRCm39)	F324C	probably damaging	Het
Or6c6c	T	C	10: 129,541,668 (GRCm39)	L307S	probably benign	Het
Or8u9	A	T	2: 86,001,759 (GRCm39)	V134D	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,093 (GRCm39)	N353S	probably benign	Het
Pde8a	T	A	7: 80,932,555 (GRCm39)		probably null	Het
Pramel29	A	T	4: 143,936,173 (GRCm39)	L29H	probably damaging	Het
Ryr2	C	T	13: 11,707,568 (GRCm39)	R2823H	probably damaging	Het
Scart2	T	C	7: 139,877,823 (GRCm39)	V935A	probably damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Slc7a1	T	C	5: 148,278,867 (GRCm39)	T302A	probably damaging	Het
Sult2a2	A	T	7: 13,468,708 (GRCm39)	Q58L	probably benign	Het
Tek	T	C	4: 94,737,920 (GRCm39)	S657P	probably damaging	Het
Trim5	A	G	7: 103,914,947 (GRCm39)	L374P	probably damaging	Het
Tspan18	C	A	2: 93,142,291 (GRCm39)		probably null	Het
Vmn2r37	T	A	7: 9,213,092 (GRCm39)		probably null	Het
Zbbx	T	C	3: 75,046,905 (GRCm39)	T121A	probably benign	Het
Zfp35	A	C	18: 24,135,766 (GRCm39)	I37L	probably benign	Het

Other mutations in Nop56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Nop56	APN	2	130,117,915 (GRCm39)	missense	possibly damaging	0.77
IGL02330:Nop56	APN	2	130,118,686 (GRCm39)	missense	probably damaging	0.99
IGL02939:Nop56	APN	2	130,120,117 (GRCm39)	missense	probably damaging	1.00
IGL03149:Nop56	APN	2	130,119,445 (GRCm39)	missense	probably damaging	1.00
bookish	UTSW	2	130,118,692 (GRCm39)	missense	possibly damaging	0.96
escholar	UTSW	2	130,119,807 (GRCm39)	missense	probably damaging	1.00
messy	UTSW	2	130,117,902 (GRCm39)	missense	probably damaging	1.00
scholar	UTSW	2	130,117,902 (GRCm39)	missense	probably damaging	1.00
IGL03046:Nop56	UTSW	2	130,117,489 (GRCm39)	unclassified	probably benign
R0421:Nop56	UTSW	2	130,118,692 (GRCm39)	missense	possibly damaging	0.96
R1405:Nop56	UTSW	2	130,119,868 (GRCm39)	missense	probably benign	0.22
R1405:Nop56	UTSW	2	130,119,868 (GRCm39)	missense	probably benign	0.22
R1713:Nop56	UTSW	2	130,119,886 (GRCm39)	missense	possibly damaging	0.85
R2202:Nop56	UTSW	2	130,119,488 (GRCm39)	missense	probably damaging	1.00
R2203:Nop56	UTSW	2	130,119,488 (GRCm39)	missense	probably damaging	1.00
R2204:Nop56	UTSW	2	130,119,488 (GRCm39)	missense	probably damaging	1.00
R3697:Nop56	UTSW	2	130,119,507 (GRCm39)	missense	probably damaging	1.00
R4679:Nop56	UTSW	2	130,120,193 (GRCm39)	missense	probably benign	0.36
R4788:Nop56	UTSW	2	130,120,820 (GRCm39)	missense	probably benign	0.05
R4792:Nop56	UTSW	2	130,119,784 (GRCm39)	missense	possibly damaging	0.96
R4999:Nop56	UTSW	2	130,117,645 (GRCm39)	missense	probably benign	0.00
R5889:Nop56	UTSW	2	130,117,902 (GRCm39)	missense	probably damaging	1.00
R6016:Nop56	UTSW	2	130,118,545 (GRCm39)	critical splice donor site	probably null
R6389:Nop56	UTSW	2	130,119,807 (GRCm39)	missense	probably damaging	1.00
R7025:Nop56	UTSW	2	130,119,801 (GRCm39)	nonsense	probably null
R7393:Nop56	UTSW	2	130,116,558 (GRCm39)	missense	probably benign	0.06
R7867:Nop56	UTSW	2	130,120,205 (GRCm39)	missense	possibly damaging	0.53
R8026:Nop56	UTSW	2	130,119,188 (GRCm39)	missense	probably benign
R8886:Nop56	UTSW	2	130,117,902 (GRCm39)	missense	probably damaging	1.00
R9450:Nop56	UTSW	2	130,117,601 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTGGTGAAGATCGTCAATG -3'
(R):5'- GCACCGCTTCCCCAATTAAG -3'

Sequencing Primer
(F):5'- ACATACTGTCGCTTGGCTCAG -3'
(R):5'- TTCCCCAATTAAGGCTGACAGG -3'

Posted On

2015-05-14