Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00834:Nop56'

12764

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nop56

Ensembl Gene

ENSMUSG00000027405

Gene Name

NOP56 ribonucleoprotein

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL00834

Quality Score

Status

Chromosome

Chromosomal Location

130116350-130121233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130117915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 130 (H130Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124616 (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 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

noncoding transcript
Transcript: ENSMUST00000083338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083355

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103198
AA Change: H130Q

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405
AA Change: H130Q

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

possibly damaging
Transcript: ENSMUST00000136621
AA Change: H130Q

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124616
Gene: ENSMUSG00000027405
AA Change: H130Q

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

Predicted Effect

unknown
Transcript: ENSMUST00000141872
AA Change: H138Q

SMART Domains

Protein: ENSMUSP00000125305
Gene: ENSMUSG00000027405
AA Change: H138Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160183

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153353

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: 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: ENSMUST00000149955

SMART Domains

Protein: ENSMUSP00000123879
Gene: ENSMUSG00000027405

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

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

noncoding transcript
Transcript: ENSMUST00000162063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161025

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161543

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	G	13: 4,562,664 (GRCm39)		probably null	Het
Alg5	T	C	3: 54,652,140 (GRCm39)		probably benign	Het
App	A	T	16: 84,762,599 (GRCm39)	F675I	probably damaging	Het
Atad1	C	A	19: 32,675,968 (GRCm39)	C152F	probably benign	Het
Atp2a3	A	C	11: 72,873,613 (GRCm39)	I829L	probably damaging	Het
B3galt1	C	T	2: 67,949,050 (GRCm39)	S255L	probably damaging	Het
Bptf	A	G	11: 106,964,754 (GRCm39)	V1417A	possibly damaging	Het
Cast	T	A	13: 74,885,093 (GRCm39)	T219S	probably damaging	Het
Cep95	A	T	11: 106,709,043 (GRCm39)	I705F	probably damaging	Het
Cnot3	C	T	7: 3,653,854 (GRCm39)	A2V	probably damaging	Het
Col1a1	A	G	11: 94,840,204 (GRCm39)	D1084G	unknown	Het
Col5a3	G	A	9: 20,697,685 (GRCm39)	Q873*	probably null	Het
Cubn	C	T	2: 13,386,738 (GRCm39)	G1509D	probably damaging	Het
Defb10	T	A	8: 22,351,952 (GRCm39)	C66S	possibly damaging	Het
Dennd4b	T	C	3: 90,186,993 (GRCm39)		probably null	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Hmcn1	C	T	1: 150,506,091 (GRCm39)	V3812I	probably benign	Het
Islr2	T	C	9: 58,107,069 (GRCm39)	T64A	probably benign	Het
Kif2b	A	T	11: 91,467,206 (GRCm39)	I359N	probably damaging	Het
Kit	A	C	5: 75,806,619 (GRCm39)	N704T	probably damaging	Het
Ksr1	A	G	11: 78,918,343 (GRCm39)	F604L	probably damaging	Het
Lrp5	A	T	19: 3,699,404 (GRCm39)	F294I	probably benign	Het
Lrrn1	A	G	6: 107,545,269 (GRCm39)	T356A	probably benign	Het
Mrps17	G	A	5: 129,793,829 (GRCm39)	V8I	probably benign	Het
Plg	T	A	17: 12,630,380 (GRCm39)	L639Q	probably damaging	Het
Ppcdc	A	G	9: 57,322,423 (GRCm39)	F159L	probably benign	Het
Ppp1ca	A	G	19: 4,244,519 (GRCm39)	T193A	probably benign	Het
Prpf39	A	G	12: 65,090,037 (GRCm39)	D117G	probably damaging	Het
Ranbp2	C	A	10: 58,289,145 (GRCm39)	T51K	possibly damaging	Het
Sytl2	A	G	7: 90,031,844 (GRCm39)		probably benign	Het
Tenm2	T	A	11: 35,915,085 (GRCm39)	I2150F	probably damaging	Het
Wdr11	T	G	7: 129,194,817 (GRCm39)		probably null	Het

Other mutations in Nop56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4114:Nop56	UTSW	2	130,118,593 (GRCm39)	splice site	probably null
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

Posted On

2012-12-06