Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Nvl'

160211

Institutional Source

Beutler Lab

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180914703-180971769 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 180924691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000027797

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516

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: ENSMUST00000191721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195511

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,511 (GRCm39)	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,147,562 (GRCm39)		probably null	Het
Anks1b	A	G	10: 89,885,891 (GRCm39)	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926 (GRCm39)	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,001,057 (GRCm39)		probably benign	Het
C4b	T	A	17: 34,949,693 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,562,764 (GRCm39)	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822 (GRCm38)	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,600,721 (GRCm39)		probably benign	Het
Cep63	A	T	9: 102,480,285 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,126,825 (GRCm39)		probably null	Het
Cnot11	A	G	1: 39,584,261 (GRCm39)	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,627,069 (GRCm39)	S254P	probably damaging	Het
Dnah11	T	A	12: 118,020,841 (GRCm39)	K87*	probably null	Het
Dpy19l2	T	A	9: 24,492,559 (GRCm39)		probably benign	Het
Dsc1	A	T	18: 20,221,393 (GRCm39)	I694N	probably damaging	Het
Ehd4	A	T	2: 119,958,081 (GRCm39)	I168K	probably benign	Het
Eif4e	A	T	3: 138,252,136 (GRCm39)	N25Y	probably damaging	Het
Elapor2	A	G	5: 9,430,297 (GRCm39)	Y69C	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Fgfrl1	T	A	5: 108,854,147 (GRCm39)		probably benign	Het
Fhip2a	T	A	19: 57,361,358 (GRCm39)		probably benign	Het
Gm3159	T	A	14: 4,398,586 (GRCm38)	Y92*	probably null	Het
Gm4922	T	A	10: 18,659,496 (GRCm39)	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,691,244 (GRCm39)		probably benign	Het
Grsf1	A	G	5: 88,813,706 (GRCm39)	Y231H	probably benign	Het
Heatr4	T	A	12: 84,014,395 (GRCm39)	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Isg20l2	C	A	3: 87,846,061 (GRCm39)	L325I	probably benign	Het
Kalrn	A	G	16: 34,033,190 (GRCm39)	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,402,485 (GRCm39)	W318L	probably damaging	Het
Kctd1	T	C	18: 15,195,654 (GRCm39)	E323G	possibly damaging	Het
Kif4	G	T	X: 99,732,703 (GRCm39)	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,518,558 (GRCm39)	T151A	unknown	Het
Ldlr	A	T	9: 21,650,838 (GRCm39)	Q449L	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lgals12	C	T	19: 7,581,322 (GRCm39)		probably benign	Het
Lrig3	C	T	10: 125,838,957 (GRCm39)	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,111,876 (GRCm39)	I583L	probably benign	Het
Lyst	T	C	13: 13,915,121 (GRCm39)	S3272P	possibly damaging	Het
Marchf2	T	C	17: 33,915,096 (GRCm39)	H166R	probably damaging	Het
Mtbp	C	A	15: 55,440,933 (GRCm39)	Y373*	probably null	Het
Myh2	C	T	11: 67,076,113 (GRCm39)	H767Y	probably benign	Het
Ncam1	G	A	9: 49,428,889 (GRCm39)		probably benign	Het
Neb	T	A	2: 52,179,658 (GRCm39)	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,269,119 (GRCm39)	Y428H	possibly damaging	Het
Nrros	A	T	16: 31,961,962 (GRCm39)	I649N	probably damaging	Het
Or5p70	T	A	7: 107,994,708 (GRCm39)	V127E	probably damaging	Het
Pms1	A	T	1: 53,246,435 (GRCm39)	V368E	possibly damaging	Het
Polq	T	A	16: 36,882,857 (GRCm39)	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,850,307 (GRCm39)	V31A	probably damaging	Het
Rev3l	T	A	10: 39,697,579 (GRCm39)	V692E	probably benign	Het
Robo4	T	C	9: 37,319,372 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,532,212 (GRCm39)	I597V	probably damaging	Het
Rtel1	T	A	2: 180,977,658 (GRCm39)		probably null	Het
Scn9a	A	G	2: 66,314,930 (GRCm39)	M1587T	probably benign	Het
Sec31b	T	A	19: 44,512,104 (GRCm39)	I597F	probably benign	Het
Skint5	T	C	4: 113,636,268 (GRCm39)	N650S	unknown	Het
Slc22a28	G	T	19: 8,107,566 (GRCm39)	S167*	probably null	Het
Slfn1	T	A	11: 83,011,968 (GRCm39)	M28K	probably damaging	Het
Smc6	T	C	12: 11,321,880 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,857 (GRCm39)	H282R	probably benign	Het
Spata31e2	G	T	1: 26,724,422 (GRCm39)	Q253K	possibly damaging	Het
Syngr3	C	A	17: 24,905,414 (GRCm39)	V161L	probably benign	Het
Trak1	C	T	9: 121,283,425 (GRCm39)	S397F	probably damaging	Het
Uso1	C	T	5: 92,329,327 (GRCm39)	A405V	probably benign	Het
Uvrag	G	T	7: 98,715,027 (GRCm39)	Y190*	probably null	Het
Vps13d	A	T	4: 144,826,553 (GRCm39)	L1726Q	probably null	Het
Vwf	A	T	6: 125,580,420 (GRCm39)	Q556L	probably benign	Het
Wdr70	T	A	15: 8,065,325 (GRCm39)	M246L	probably benign	Het
Yipf3	T	C	17: 46,562,372 (GRCm39)	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,476,621 (GRCm39)	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,354,608 (GRCm39)	F125L	probably benign	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
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
R6821:Nvl	UTSW	1	180,954,535 (GRCm39)	nonsense	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'- GCACCTCAGAGACACTTAGGCAAAG -3'
(R):5'- AGCTAAAAGCTGTTCCTTACTGCTCC -3'

Sequencing Primer
(F):5'- aatgctccaccagtgacc -3'
(R):5'- AGTTCCACCTCCATTCATTGC -3'

Posted On

2014-03-14