Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Nvl'

537601

Institutional Source

Beutler Lab

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181087138-181144204 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 181126970 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 343 (Q343*)

Ref Sequence

ENSEMBL: ENSMUSP00000027797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027797]

AlphaFold

Q9DBY8

PDB Structure

Structure and function of the N-terminal nucleolin binding domain of nuclear valocine containing protein like 2 (NVL2) harboring a nucleolar localization signal [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000027797
AA Change: Q343*

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: Q343*

Domain	Start	End	E-Value	Type
Pfam:Nucleolin_bd	2	72	1.9e-31	PFAM
low complexity region	90	104	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
AAA	296	435	2.94e-23	SMART
low complexity region	524	540	N/A	INTRINSIC
AAA	613	749	2.56e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,948,173	F506I	probably damaging	Het
Atp9b	A	T	18: 80,847,248	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
D630003M21Rik	A	C	2: 158,204,774	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083	I96V	probably benign	Het
Gars	A	G	6: 55,079,338	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,484,493	I2T	probably benign	Het
Ints9	A	G	14: 65,037,458	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467	P47S	probably benign	Het
Map10	A	G	8: 125,670,399	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475	N3403S	probably damaging	Het
Ocstamp	A	T	2: 165,397,922	S115T	probably benign	Het
Olfr632	A	T	7: 103,937,586	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847		probably null	Het
Pcdhb20	A	T	18: 37,506,122	N567I	probably damaging	Het
Pgm5	A	T	19: 24,861,647	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,386,444	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777	D803G	probably damaging	Het
Rbm26	G	A	14: 105,116,964		probably benign	Het
Rspry1	C	T	8: 94,635,431	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787	V438A	probably benign	Het
Spast	A	G	17: 74,351,962	E108G	probably benign	Het
Speg	A	G	1: 75,417,903	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490		probably null	Het
Tgfbi	T	C	13: 56,626,137	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267	F493I	probably damaging	Het

Other mutations in Nvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Nvl	APN	1	181105125	missense	probably damaging	1.00
IGL00943:Nvl	APN	1	181101634	missense	possibly damaging	0.72
IGL01956:Nvl	APN	1	181134944	missense	probably benign	0.00
IGL02657:Nvl	APN	1	181106976	missense	probably damaging	1.00
nineveh	UTSW	1	181136906	missense	probably benign	0.00
nubia	UTSW	1	181112334	missense	probably benign	0.19
IGL03098:Nvl	UTSW	1	181093906	missense	probably benign	0.37
P0047:Nvl	UTSW	1	181112302	missense	probably damaging	1.00
R0003:Nvl	UTSW	1	181114133	missense	probably damaging	1.00
R0114:Nvl	UTSW	1	181120391	missense	probably benign	0.19
R0265:Nvl	UTSW	1	181134830	missense	probably damaging	0.96
R0928:Nvl	UTSW	1	181093902	missense	probably benign	0.00
R1398:Nvl	UTSW	1	181097126	splice site	probably benign
R1470:Nvl	UTSW	1	181139262	missense	probably damaging	1.00
R1470:Nvl	UTSW	1	181139262	missense	probably damaging	1.00
R1529:Nvl	UTSW	1	181109159	critical splice donor site	probably null
R1934:Nvl	UTSW	1	181099128	missense	probably damaging	0.96
R2176:Nvl	UTSW	1	181135074	splice site	probably benign
R2351:Nvl	UTSW	1	181130792	missense	probably benign	0.03
R4415:Nvl	UTSW	1	181105114	missense	probably benign
R4570:Nvl	UTSW	1	181144082	missense	probably benign	0.03
R4720:Nvl	UTSW	1	181101587	missense	probably damaging	1.00
R4888:Nvl	UTSW	1	181117626	missense	probably damaging	1.00
R5026:Nvl	UTSW	1	181105155	missense	probably damaging	1.00
R5507:Nvl	UTSW	1	181135036	missense	probably damaging	0.98
R5785:Nvl	UTSW	1	181139298	missense	probably damaging	1.00
R5983:Nvl	UTSW	1	181136906	missense	probably benign	0.00
R6143:Nvl	UTSW	1	181134995	missense	probably benign	0.01
R6532:Nvl	UTSW	1	181144143	splice site	probably null
R7062:Nvl	UTSW	1	181112334	missense	probably benign	0.19
R7247:Nvl	UTSW	1	181112286	critical splice donor site	probably null
R7358:Nvl	UTSW	1	181135036	missense	probably damaging	0.98
R7665:Nvl	UTSW	1	181134944	missense	probably benign	0.18
R7795:Nvl	UTSW	1	181097157	missense	probably benign	0.00
R7931:Nvl	UTSW	1	181109155	splice site	probably benign
R8185:Nvl	UTSW	1	181144174	unclassified	probably benign
R8806:Nvl	UTSW	1	181095054	missense	probably benign	0.01
R8933:Nvl	UTSW	1	181139073	missense	probably benign	0.00
R8975:Nvl	UTSW	1	181130436	missense	probably benign
R9249:Nvl	UTSW	1	181135028	missense	probably damaging	1.00
R9584:Nvl	UTSW	1	181130866	missense	probably benign
R9586:Nvl	UTSW	1	181105070	critical splice donor site	probably null
X0067:Nvl	UTSW	1	181139158	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TGAAACATGACATAGCCAAGAGTC -3'
(R):5'- GGCTCACATATAGAGATGGAATTTC -3'

Sequencing Primer
(F):5'- ATGACATAGCCAAGAGTCTATACC -3'
(R):5'- ACCAACGTTGACAGGTTGTC -3'

Posted On

2018-10-18