Mutagenetix > Incidental Mutation

Incidental Mutation 'R0265:Nvl'

34823

Institutional Source

Beutler Lab

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

MMRRC Submission

038491-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0265 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

181087138-181144204 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 181134830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 192 (D192Y)

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 damaging
Transcript: ENSMUST00000027797
AA Change: D192Y

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: D192Y

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: ENSMUST00000193758

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.6%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	T	G	14: 8,431,667	Y655S	probably damaging	Het
9330182L06Rik	T	C	5: 9,434,681	L486P	probably damaging	Het
Abca14	A	G	7: 120,223,627	I321V	probably benign	Het
Adcy7	A	G	8: 88,324,763	D837G	probably damaging	Het
Aldh1a1	T	A	19: 20,640,076	Y457*	probably null	Het
Alox5	T	C	6: 116,420,362	Y287C	probably benign	Het
Ano8	T	C	8: 71,480,524		probably benign	Het
Ap3b1	A	G	13: 94,493,681	K815E	unknown	Het
Atp11a	A	T	8: 12,856,930		probably benign	Het
Atp6v0a1	A	T	11: 101,048,515	D702V	possibly damaging	Het
Cacna1b	T	A	2: 24,761,844	N108Y	probably damaging	Het
Ccdc57	G	C	11: 120,921,811	A39G	probably benign	Het
Cdhr1	A	T	14: 37,081,376	V581D	probably benign	Het
Cyp2b23	A	G	7: 26,672,879		probably benign	Het
D430041D05Rik	G	C	2: 104,167,950	P1836R	probably damaging	Het
Ddit4l	C	T	3: 137,624,287		probably benign	Het
Dnah8	A	T	17: 30,690,271	I1024F	probably benign	Het
Edc3	T	A	9: 57,727,338	F213I	probably damaging	Het
Edrf1	G	A	7: 133,657,045	D717N	probably damaging	Het
Efna5	G	A	17: 62,651,073	P63S	probably damaging	Het
Entpd3	A	G	9: 120,558,481	Y248C	probably damaging	Het
Flcn	G	A	11: 59,795,809	Q373*	probably null	Het
Fry	T	C	5: 150,434,776	V1908A	probably damaging	Het
Gabrg3	A	T	7: 57,381,617	Y58*	probably null	Het
Gabrp	A	T	11: 33,552,614	Y417N	probably damaging	Het
Golga2	C	A	2: 32,304,952		probably null	Het
Grip2	C	A	6: 91,773,792		probably null	Het
Gsx2	A	G	5: 75,077,068	Y227C	probably damaging	Het
Hif3a	T	C	7: 17,035,868	*665W	probably null	Het
Hist1h2aa	T	C	13: 23,934,649	V63A	probably benign	Het
Hsd3b1	C	A	3: 98,852,773	V301L	probably damaging	Het
Ifitm5	T	C	7: 140,950,008		probably benign	Het
Inpp4a	A	T	1: 37,378,986	D498V	probably damaging	Het
Itga1	A	T	13: 114,992,459	D554E	probably benign	Het
Itk	G	A	11: 46,389,458		probably benign	Het
Kdm3b	T	A	18: 34,795,663		probably benign	Het
Klhl6	A	G	16: 19,948,234	V470A	probably benign	Het
Lamb3	T	A	1: 193,320,531	W95R	probably damaging	Het
Lbhd2	T	A	12: 111,410,242	I41N	probably damaging	Het
Lrp4	A	T	2: 91,490,670	S1014C	probably damaging	Het
Ltbp2	C	T	12: 84,785,969		probably null	Het
Map3k19	A	G	1: 127,822,182	I1144T	possibly damaging	Het
Mfsd10	T	C	5: 34,635,163		probably benign	Het
Mocos	A	G	18: 24,666,276	D189G	probably benign	Het
Mvb12a	T	A	8: 71,547,010	F224L	probably damaging	Het
Myo15	A	T	11: 60,514,897		probably null	Het
Nos2	A	T	11: 78,937,602	H249L	probably damaging	Het
Notum	A	G	11: 120,658,334	M184T	probably benign	Het
Olfr1024	T	A	2: 85,904,247	N269I	probably benign	Het
Olfr1065	C	A	2: 86,445,959	V8L	probably benign	Het
Olfr1308	T	C	2: 111,960,494	Y193C	probably damaging	Het
Olfr204	A	T	16: 59,315,071	F112Y	probably damaging	Het
Olfr218	A	G	1: 173,203,917	K187R	probably benign	Het
Osgin1	A	G	8: 119,445,657	I397V	possibly damaging	Het
Otulin	A	G	15: 27,616,424	V123A	probably damaging	Het
P4ha1	A	G	10: 59,348,259	Y181C	probably damaging	Het
Pcdhgc5	A	T	18: 37,821,350	D559V	probably damaging	Het
Phf2	T	C	13: 48,828,794	N151S	unknown	Het
Plxnc1	C	A	10: 94,813,129	G1263C	probably benign	Het
Rad51ap1	A	G	6: 126,924,197	*338Q	probably null	Het
Raver1	A	G	9: 21,075,659	S676P	probably benign	Het
Rfx8	T	C	1: 39,688,577	E196G	possibly damaging	Het
Rreb1	A	T	13: 37,916,155	K187*	probably null	Het
Rxfp1	T	C	3: 79,667,654	T217A	probably benign	Het
Rxra	T	C	2: 27,752,430	L305P	probably damaging	Het
Sardh	T	C	2: 27,227,066		probably benign	Het
Skor2	A	T	18: 76,876,598	E952D	probably damaging	Het
Slc22a29	A	T	19: 8,169,970	S343T	probably benign	Het
Sorbs2	T	C	8: 45,785,337		probably benign	Het
Supt7l	C	T	5: 31,515,918	V329I	probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tac1	T	C	6: 7,559,165		probably benign	Het
Tcn2	A	T	11: 3,922,044	V361D	probably damaging	Het
Tm2d3	G	A	7: 65,697,834	A170T	possibly damaging	Het
Tnks	G	A	8: 34,839,970	R1142*	probably null	Het
Ttll7	C	A	3: 146,944,160	Y648*	probably null	Het
Umod	G	T	7: 119,466,073	Q578K	probably benign	Het
Upf2	G	A	2: 6,027,204		probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Washc5	A	G	15: 59,338,960	I1013T	probably benign	Het
Wdr60	T	C	12: 116,257,406		probably benign	Het
Zfp704	C	A	3: 9,565,157	R48L	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
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
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'- ATGTCCCACTGCCAATAAGGCTG -3'
(R):5'- CTCAGAGTCTGTTTCAACCACTCCG -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- TTTCAACCACTCCGAAGTGGG -3'

Posted On

2013-05-09