Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4531001:Nob1'

556459

Institutional Source

Beutler Lab

Gene Symbol

Nob1

Ensembl Gene

ENSMUSG00000003848

Gene Name

NIN1/RPN12 binding protein 1 homolog

Synonyms

1700021I09Rik, ART-4, Nob1p, Psmd8bp1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

PIT4531001 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

108139121-108151670 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108145049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 142 (D142G)

Ref Sequence

ENSEMBL: ENSMUSP00000003946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003946] [ENSMUST00000169311]

AlphaFold

Q8BW10

PDB Structure

Solution Structure of RSGI RUH-035, a Zn-ribbon module in Mouse cDNA [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000003946
AA Change: D142G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: D142G

Domain	Start	End	E-Value	Type
PINc	5	108	2.28e-6	SMART
Pfam:AF1Q	135	211	1.8e-30	PFAM
Pfam:NOB1_Zn_bind	251	323	1e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165266

SMART Domains

Protein: ENSMUSP00000129298
Gene: ENSMUSG00000003848

Domain	Start	End	E-Value	Type
Blast:PINc	5	61	9e-34	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000169311

SMART Domains

Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848

Domain	Start	End	E-Value	Type
PINc	5	108	2.28e-6	SMART

Coding Region Coverage

1x: 93.0%
3x: 90.6%
10x: 84.3%
20x: 70.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	G	9: 59,217,600 (GRCm39)	D204E	probably damaging	Het
Aqr	C	A	2: 113,961,215 (GRCm39)	V682L	possibly damaging	Het
Bmper	A	T	9: 23,136,113 (GRCm39)	N65Y	possibly damaging	Het
Calb1	T	C	4: 15,900,925 (GRCm39)	L171P	probably damaging	Het
Card11	T	C	5: 140,892,415 (GRCm39)	M217V	probably damaging	Het
Col11a2	A	G	17: 34,265,412 (GRCm39)		probably null	Het
Dpm1	T	C	2: 168,052,472 (GRCm39)	T255A	probably benign	Het
Efhb	A	G	17: 53,752,803 (GRCm39)	Y440H	probably damaging	Het
Elp2	T	C	18: 24,737,170 (GRCm39)	V40A	probably damaging	Het
Far2	A	T	6: 148,076,629 (GRCm39)	N491Y	possibly damaging	Het
Frem1	T	A	4: 82,868,517 (GRCm39)	H1488L	probably benign	Het
Frrs1l	C	A	4: 56,990,144 (GRCm39)	R43L	unknown	Het
Galnt3	G	A	2: 65,937,432 (GRCm39)	R93C	probably benign	Het
Gm8225	A	G	17: 26,762,363 (GRCm39)	T185A	possibly damaging	Het
H2-Q1	T	C	17: 35,539,892 (GRCm39)	F54L	probably benign	Het
H2-Q1	A	T	17: 35,540,055 (GRCm39)	Q108L	probably damaging	Het
Hoxc12	T	G	15: 102,846,855 (GRCm39)	L249W	probably damaging	Het
Lrrc75b	A	T	10: 75,393,099 (GRCm39)	H83Q	probably damaging	Het
Muc4	A	T	16: 32,576,391 (GRCm39)	T1964S	unknown	Het
Or2y1d	T	C	11: 49,321,753 (GRCm39)	V150A	probably benign	Het
Or4p19	A	T	2: 88,242,104 (GRCm39)	H299Q	probably benign	Het
Or4p22	A	T	2: 88,317,601 (GRCm39)	Y175F	possibly damaging	Het
Or5b24	G	A	19: 12,912,641 (GRCm39)	D180N	probably damaging	Het
Or5d16	A	G	2: 87,773,571 (GRCm39)	Y134H	probably damaging	Het
Patj	A	T	4: 98,329,327 (GRCm39)	N527I	probably damaging	Het
Pik3c2g	A	G	6: 139,805,096 (GRCm39)	I543V		Het
Ppp1r2	A	T	16: 31,077,279 (GRCm39)	N150K	probably damaging	Het
Prl7d1	A	T	13: 27,894,161 (GRCm39)	L135Q	probably damaging	Het
Ralgds	G	T	2: 28,435,226 (GRCm39)	E461*	probably null	Het
Ramac	C	T	7: 81,417,327 (GRCm39)	P9L	possibly damaging	Het
Rasa3	T	A	8: 13,655,887 (GRCm39)	H116L	probably benign	Het
Sec24d	C	T	3: 123,136,827 (GRCm39)	P520L	probably damaging	Het
Sfmbt1	T	G	14: 30,518,283 (GRCm39)	S376A	probably benign	Het
Sspo	A	G	6: 48,458,173 (GRCm39)	T3290A	probably benign	Het
Stk25	G	A	1: 93,552,346 (GRCm39)	P345S	probably benign	Het
Sycp2l	A	G	13: 41,300,148 (GRCm39)	E454G	probably null	Het
Tecpr1	T	C	5: 144,150,885 (GRCm39)	K308E	probably damaging	Het
Thtpa	C	T	14: 55,332,962 (GRCm39)	P16S	probably damaging	Het
Trim65	T	A	11: 116,018,535 (GRCm39)	I247F	possibly damaging	Het
Trpc6	T	G	9: 8,610,149 (GRCm39)	Y206D	probably benign	Het
Ttn	G	A	2: 76,703,307 (GRCm39)	T9357I	unknown	Het
Ugt2b1	C	A	5: 87,074,342 (GRCm39)	A6S	probably benign	Het
Vmn1r175	A	G	7: 23,508,603 (GRCm39)	V8A	possibly damaging	Het
Vps13b	T	A	15: 35,878,971 (GRCm39)	I2990N	probably damaging	Het
Xirp2	G	A	2: 67,345,826 (GRCm39)	R2689Q	possibly damaging	Het
Zfp831	T	A	2: 174,488,516 (GRCm39)	Y1064N	possibly damaging	Het

Other mutations in Nob1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Nob1	APN	8	108,151,360 (GRCm39)	splice site	probably benign
IGL01661:Nob1	APN	8	108,139,814 (GRCm39)	missense	probably damaging	1.00
IGL02110:Nob1	APN	8	108,142,804 (GRCm39)	makesense	probably null
IGL03373:Nob1	APN	8	108,144,678 (GRCm39)	intron	probably benign
R0627:Nob1	UTSW	8	108,142,856 (GRCm39)	missense	probably damaging	1.00
R1181:Nob1	UTSW	8	108,148,122 (GRCm39)	missense	probably damaging	1.00
R1264:Nob1	UTSW	8	108,148,136 (GRCm39)	missense	probably damaging	0.99
R2257:Nob1	UTSW	8	108,143,729 (GRCm39)	intron	probably benign
R4402:Nob1	UTSW	8	108,145,120 (GRCm39)	intron	probably benign
R5330:Nob1	UTSW	8	108,142,881 (GRCm39)	missense	probably damaging	1.00
R6907:Nob1	UTSW	8	108,142,860 (GRCm39)	missense	possibly damaging	0.90
R7702:Nob1	UTSW	8	108,139,737 (GRCm39)	nonsense	probably null
R8412:Nob1	UTSW	8	108,148,230 (GRCm39)	nonsense	probably null
R9119:Nob1	UTSW	8	108,142,776 (GRCm39)	missense	probably damaging	1.00
X0017:Nob1	UTSW	8	108,151,465 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAACTCCTGCTGGATCTG -3'
(R):5'- CCAGACCCAGCTTGCATATG -3'

Sequencing Primer
(F):5'- AACTCCTGCTGGATCTGCTTTATG -3'
(R):5'- ACCCAGCTTGCATATGGAATG -3'

Posted On

2019-06-07