Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02110:Nob1'

280077

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02110

Quality Score

Status

Chromosome

Chromosomal Location

108139121-108151670 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 108142804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 160 (*160R)

Ref Sequence

ENSEMBL: ENSMUSP00000126868 (fasta)

Gene Model

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

AlphaFold

Q8BW10

Predicted Effect

probably benign
Transcript: ENSMUST00000003946
AA Change: N292K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: N292K

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

noncoding transcript
Transcript: ENSMUST00000076585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163973

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 null
Transcript: ENSMUST00000169311
AA Change: *160R

SMART Domains

Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848
AA Change: *160R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170796

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	A	G	15: 77,598,548 (GRCm39)		probably null	Het
Arhgef40	C	T	14: 52,226,862 (GRCm39)	T302M	probably damaging	Het
Bap1	T	C	14: 30,979,371 (GRCm39)	L458P	probably damaging	Het
Bbs12	A	G	3: 37,373,336 (GRCm39)	E43G	probably benign	Het
Bod1l	C	T	5: 41,973,796 (GRCm39)	C2506Y	probably damaging	Het
Ccdc170	A	G	10: 4,491,885 (GRCm39)		probably null	Het
Chpf2	A	G	5: 24,796,710 (GRCm39)	E552G	probably damaging	Het
Comp	T	A	8: 70,826,289 (GRCm39)	I23N	probably benign	Het
Cxcl2	T	C	5: 91,052,211 (GRCm39)		probably benign	Het
Dctn5	T	C	7: 121,734,374 (GRCm39)	F73L	probably damaging	Het
Ddx5	T	C	11: 106,675,835 (GRCm39)	E285G	probably damaging	Het
Ddx60	T	G	8: 62,470,281 (GRCm39)		probably null	Het
Dhcr24	T	A	4: 106,430,998 (GRCm39)	I229N	probably damaging	Het
Dnah7a	G	A	1: 53,450,739 (GRCm39)	T3897I	possibly damaging	Het
Dvl2	T	A	11: 69,898,842 (GRCm39)		probably benign	Het
Dytn	A	T	1: 63,686,632 (GRCm39)	V346E	possibly damaging	Het
Eepd1	T	C	9: 25,514,698 (GRCm39)		probably benign	Het
Fbln2	G	T	6: 91,211,084 (GRCm39)	A343S	probably benign	Het
Flywch1	T	C	17: 23,982,066 (GRCm39)		probably null	Het
Gckr	A	T	5: 31,456,082 (GRCm39)	T81S	possibly damaging	Het
Gm6139	T	A	5: 129,700,656 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,372,530 (GRCm39)	C657*	probably null	Het
Greb1l	A	G	18: 10,515,271 (GRCm39)	I89V	probably damaging	Het
Hdac4	G	A	1: 91,912,127 (GRCm39)	P421S	probably benign	Het
Iqca1l	A	G	5: 24,753,082 (GRCm39)		probably benign	Het
Klhl1	A	G	14: 96,374,039 (GRCm39)	L669P	probably benign	Het
Mios	A	G	6: 8,215,565 (GRCm39)	R254G	probably damaging	Het
Mmp19	A	G	10: 128,630,727 (GRCm39)	N116D	probably damaging	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nadsyn1	T	C	7: 143,367,164 (GRCm39)	Y141C	probably damaging	Het
Nlrp4d	T	C	7: 10,116,491 (GRCm39)		noncoding transcript	Het
Or10ac1	A	G	6: 42,515,113 (GRCm39)	V281A	possibly damaging	Het
Or1f12	T	A	13: 21,722,112 (GRCm39)	Q21L	possibly damaging	Het
Or1j17	A	G	2: 36,578,697 (GRCm39)	T228A	probably benign	Het
Or4k45	C	T	2: 111,395,252 (GRCm39)	C179Y	probably damaging	Het
Or51s1	C	T	7: 102,558,402 (GRCm39)	V215I	probably benign	Het
Or56b1b	C	A	7: 108,164,286 (GRCm39)	A239S	probably damaging	Het
Phc1	T	C	6: 122,298,994 (GRCm39)	D658G	possibly damaging	Het
Pitx2	T	G	3: 129,012,466 (GRCm39)	S299A	probably damaging	Het
Plekha7	C	A	7: 115,753,863 (GRCm39)		probably null	Het
Ptgfr	A	G	3: 151,541,097 (GRCm39)	V137A	probably damaging	Het
Ptprb	T	C	10: 116,167,108 (GRCm39)		probably benign	Het
Rasl2-9	C	T	7: 5,128,346 (GRCm39)	A195T	probably benign	Het
Ripor3	T	A	2: 167,836,626 (GRCm39)	Q121L	possibly damaging	Het
Sgsh	G	T	11: 119,243,632 (GRCm39)	A30E	probably damaging	Het
Sis	G	T	3: 72,836,032 (GRCm39)	C852*	probably null	Het
Slc17a9	A	G	2: 180,374,369 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,607 (GRCm39)		noncoding transcript	Het
Smarca2	A	G	19: 26,650,140 (GRCm39)	Y704C	possibly damaging	Het
Spata6	A	T	4: 111,642,003 (GRCm39)	H291L	possibly damaging	Het
Stra8	T	C	6: 34,907,289 (GRCm39)		probably benign	Het
Taldo1	T	C	7: 140,982,647 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,868,219 (GRCm39)		probably benign	Het
Tmpo	A	C	10: 90,998,727 (GRCm39)	S353R	probably damaging	Het
Tpr	A	T	1: 150,311,493 (GRCm39)	Q1757L	probably damaging	Het
Ubn1	T	C	16: 4,899,754 (GRCm39)		probably benign	Het
Vmn2r83	T	C	10: 79,327,534 (GRCm39)	V714A	possibly damaging	Het
Zfp407	G	T	18: 84,577,165 (GRCm39)	A1316D	probably benign	Het
Zzef1	T	A	11: 72,803,938 (GRCm39)	I2560N	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
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
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

Posted On

2015-04-16