Mutagenetix > Incidental Mutation

Incidental Mutation 'R7702:Nob1'

594064

Institutional Source

Beutler Lab

Gene Symbol

Nob1

Ensembl Gene

ENSMUSG00000003848

Gene Name

NIN1/RPN12 binding protein 1 homolog

Synonyms

1700021I09Rik, ART-4, Nob1p, Psmd8bp1

MMRRC Submission

045763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108139121-108151670 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 108139737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 341 (R341*)

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 null
Transcript: ENSMUST00000003946
AA Change: R341*

SMART Domains

Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: R341*

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: ENSMUST00000169311

SMART Domains

Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,167,278 (GRCm39)		probably null	Het
AU040320	T	A	4: 126,708,166 (GRCm39)	S261T	probably benign	Het
Banp	T	A	8: 122,705,326 (GRCm39)	C65*	probably null	Het
Bloc1s5	T	C	13: 38,787,850 (GRCm39)	D178G	probably benign	Het
Cacna1c	A	G	6: 118,575,727 (GRCm39)	F1941L		Het
Ccdc121rt3	T	C	5: 112,503,063 (GRCm39)	K214E	probably benign	Het
Cd48	A	G	1: 171,523,348 (GRCm39)	I64V	probably damaging	Het
Cela3a	A	G	4: 137,135,501 (GRCm39)	S21P	probably benign	Het
Cidec	A	G	6: 113,411,415 (GRCm39)	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,588,803 (GRCm39)	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cux2	T	C	5: 122,006,648 (GRCm39)	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,748,048 (GRCm39)	L298F	probably benign	Het
Dnah1	C	A	14: 31,032,866 (GRCm39)	V390F	probably benign	Het
Dnah17	T	C	11: 118,012,304 (GRCm39)	D486G	possibly damaging	Het
Dnah17	T	C	11: 117,916,466 (GRCm39)	I4236V	probably benign	Het
Dpp6	T	A	5: 27,857,274 (GRCm39)	D406E	probably benign	Het
Dsp	C	T	13: 38,359,183 (GRCm39)	A318V	possibly damaging	Het
Duox1	T	C	2: 122,160,120 (GRCm39)	L745P	possibly damaging	Het
Ell	C	A	8: 70,992,364 (GRCm39)	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,459,775 (GRCm39)	L1832*	probably null	Het
Filip1	G	T	9: 79,727,931 (GRCm39)	N229K	probably benign	Het
Flg	A	T	3: 93,200,089 (GRCm39)	H195L	unknown	Het
Fndc7	G	T	3: 108,770,129 (GRCm39)	P685H	probably damaging	Het
Ggt1	A	G	10: 75,412,116 (GRCm39)	N120S	probably benign	Het
Gm4952	A	T	19: 12,604,428 (GRCm39)	H280L	probably benign	Het
Golim4	A	T	3: 75,794,091 (GRCm39)	D551E	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hmbs	A	C	9: 44,248,147 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,273,054 (GRCm39)	D474G	probably benign	Het
Ipo4	A	C	14: 55,869,787 (GRCm39)	H343Q	probably damaging	Het
Jade2	C	T	11: 51,707,744 (GRCm39)	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,274,841 (GRCm39)	T453I	probably damaging	Het
Klk6	T	C	7: 43,478,689 (GRCm39)	S199P	probably damaging	Het
Ltn1	A	T	16: 87,223,166 (GRCm39)	Y105N	probably damaging	Het
Map3k19	G	T	1: 127,756,827 (GRCm39)	T394N	probably damaging	Het
Megf6	G	A	4: 154,354,927 (GRCm39)	D1445N	probably benign	Het
Mmp21	A	G	7: 133,280,791 (GRCm39)	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,904,585 (GRCm39)		probably null	Het
Nckipsd	A	T	9: 108,691,216 (GRCm39)	R38*	probably null	Het
Or11g25	A	G	14: 50,723,751 (GRCm39)	T279A	possibly damaging	Het
Or1e19	T	A	11: 73,324,175 (GRCm39)		probably benign	Het
Or5ac22	A	G	16: 59,134,997 (GRCm39)	Y258H	probably damaging	Het
Pcdh1	A	G	18: 38,336,569 (GRCm39)	L22P	unknown	Het
Pebp4	T	A	14: 70,297,056 (GRCm39)	N198K	probably benign	Het
Pkp4	T	C	2: 59,138,757 (GRCm39)	S336P	probably damaging	Het
Prr5l	T	A	2: 101,547,442 (GRCm39)	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,756,340 (GRCm39)	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,756,341 (GRCm39)	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,705,219 (GRCm39)	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,820,915 (GRCm39)	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,096,932 (GRCm39)		probably null	Het
Syne1	T	C	10: 5,195,835 (GRCm39)	E3945G	probably damaging	Het
Syne2	A	G	12: 76,037,161 (GRCm39)	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,140,236 (GRCm39)	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,288,539 (GRCm39)	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,345,415 (GRCm39)	C95S	probably benign	Het
Trappc8	C	T	18: 20,958,119 (GRCm39)	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,032,461 (GRCm39)	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn1r123	A	C	7: 20,896,302 (GRCm39)	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,577,553 (GRCm39)	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802 (GRCm39)	S438P	probably 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
PIT4531001:Nob1	UTSW	8	108,145,049 (GRCm39)	missense	probably benign	0.01
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
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'- CTAGCTGCAGTCTGCTTTGC -3'
(R):5'- TTGTTGACACACAGTGGGC -3'

Sequencing Primer
(F):5'- AGGGCTTGCAATGTCACC -3'
(R):5'- TTGACACACAGTGGGCAGGAC -3'

Posted On

2019-11-12