Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02657:Nvl'

302408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

181087138-181144204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 181106976 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 655 (V655F)

Ref Sequence

ENSEMBL: ENSMUSP00000027797 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000027797
AA Change: V655F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: V655F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191728

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	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
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
R6821:Nvl	UTSW	1	181126970	nonsense	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
X0067:Nvl	UTSW	1	181139158	missense	possibly damaging	0.58

Posted On

2015-04-16