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

044933-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180914703-180971769 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 180954535 bp (GRCm39)

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: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Adamts8	T	A	9: 30,867,922 (GRCm39)	L582Q	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Nvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Nvl	APN	1	180,932,690 (GRCm39)	missense	probably damaging	1.00
IGL00943:Nvl	APN	1	180,929,199 (GRCm39)	missense	possibly damaging	0.72
IGL01956:Nvl	APN	1	180,962,509 (GRCm39)	missense	probably benign	0.00
IGL02657:Nvl	APN	1	180,934,541 (GRCm39)	missense	probably damaging	1.00
Nineveh	UTSW	1	180,964,471 (GRCm39)	missense	probably benign	0.00
nubia	UTSW	1	180,939,899 (GRCm39)	missense	probably benign	0.19
IGL03098:Nvl	UTSW	1	180,921,471 (GRCm39)	missense	probably benign	0.37
P0047:Nvl	UTSW	1	180,939,867 (GRCm39)	missense	probably damaging	1.00
R0003:Nvl	UTSW	1	180,941,698 (GRCm39)	missense	probably damaging	1.00
R0114:Nvl	UTSW	1	180,947,956 (GRCm39)	missense	probably benign	0.19
R0265:Nvl	UTSW	1	180,962,395 (GRCm39)	missense	probably damaging	0.96
R0928:Nvl	UTSW	1	180,921,467 (GRCm39)	missense	probably benign	0.00
R1398:Nvl	UTSW	1	180,924,691 (GRCm39)	splice site	probably benign
R1470:Nvl	UTSW	1	180,966,827 (GRCm39)	missense	probably damaging	1.00
R1470:Nvl	UTSW	1	180,966,827 (GRCm39)	missense	probably damaging	1.00
R1529:Nvl	UTSW	1	180,936,724 (GRCm39)	critical splice donor site	probably null
R1934:Nvl	UTSW	1	180,926,693 (GRCm39)	missense	probably damaging	0.96
R2176:Nvl	UTSW	1	180,962,639 (GRCm39)	splice site	probably benign
R2351:Nvl	UTSW	1	180,958,357 (GRCm39)	missense	probably benign	0.03
R4415:Nvl	UTSW	1	180,932,679 (GRCm39)	missense	probably benign
R4570:Nvl	UTSW	1	180,971,647 (GRCm39)	missense	probably benign	0.03
R4720:Nvl	UTSW	1	180,929,152 (GRCm39)	missense	probably damaging	1.00
R4888:Nvl	UTSW	1	180,945,191 (GRCm39)	missense	probably damaging	1.00
R5026:Nvl	UTSW	1	180,932,720 (GRCm39)	missense	probably damaging	1.00
R5507:Nvl	UTSW	1	180,962,601 (GRCm39)	missense	probably damaging	0.98
R5785:Nvl	UTSW	1	180,966,863 (GRCm39)	missense	probably damaging	1.00
R5983:Nvl	UTSW	1	180,964,471 (GRCm39)	missense	probably benign	0.00
R6143:Nvl	UTSW	1	180,962,560 (GRCm39)	missense	probably benign	0.01
R6532:Nvl	UTSW	1	180,971,708 (GRCm39)	splice site	probably null
R7062:Nvl	UTSW	1	180,939,899 (GRCm39)	missense	probably benign	0.19
R7247:Nvl	UTSW	1	180,939,851 (GRCm39)	critical splice donor site	probably null
R7358:Nvl	UTSW	1	180,962,601 (GRCm39)	missense	probably damaging	0.98
R7665:Nvl	UTSW	1	180,962,509 (GRCm39)	missense	probably benign	0.18
R7795:Nvl	UTSW	1	180,924,722 (GRCm39)	missense	probably benign	0.00
R7931:Nvl	UTSW	1	180,936,720 (GRCm39)	splice site	probably benign
R8185:Nvl	UTSW	1	180,971,739 (GRCm39)	unclassified	probably benign
R8806:Nvl	UTSW	1	180,922,619 (GRCm39)	missense	probably benign	0.01
R8933:Nvl	UTSW	1	180,966,638 (GRCm39)	missense	probably benign	0.00
R8975:Nvl	UTSW	1	180,958,001 (GRCm39)	missense	probably benign
R9249:Nvl	UTSW	1	180,962,593 (GRCm39)	missense	probably damaging	1.00
R9584:Nvl	UTSW	1	180,958,431 (GRCm39)	missense	probably benign
R9586:Nvl	UTSW	1	180,932,635 (GRCm39)	critical splice donor site	probably null
X0067:Nvl	UTSW	1	180,966,723 (GRCm39)	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