Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01956:Nvl'

181102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL01956

Quality Score

Status

Chromosome

Chromosomal Location

180914703-180971769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180962509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 154 (S154P)

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
AA Change: S154P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: S154P

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	C	T	5: 89,825,770 (GRCm39)	G1022D	probably damaging	Het
Adgrv1	T	C	13: 81,594,549 (GRCm39)	H4155R	possibly damaging	Het
Akna	A	T	4: 63,297,527 (GRCm39)	D842E	probably benign	Het
Cacng5	T	C	11: 107,773,735 (GRCm39)	E88G	possibly damaging	Het
Fbxw18	G	A	9: 109,522,425 (GRCm39)	P148L	probably damaging	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Iho1	T	C	9: 108,294,518 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,150,158 (GRCm39)		probably null	Het
Nudcd1	A	G	15: 44,263,612 (GRCm39)	Y277H	probably damaging	Het
Or6c206	T	A	10: 129,096,911 (GRCm39)	I27N	possibly damaging	Het
Pah	G	A	10: 87,374,061 (GRCm39)	E76K	probably benign	Het
Peli1	T	A	11: 21,098,501 (GRCm39)	I412N	probably damaging	Het
Rmc1	A	G	18: 12,322,407 (GRCm39)	N620S	probably damaging	Het
Slc18a2	T	C	19: 59,275,608 (GRCm39)		probably benign	Het
Stx1a	T	C	5: 135,066,323 (GRCm39)		probably benign	Het
Syne2	G	A	12: 76,144,748 (GRCm39)	D1566N	probably damaging	Het
Syt7	G	T	19: 10,420,755 (GRCm39)	E433D	probably benign	Het
Tas2r102	G	A	6: 132,739,416 (GRCm39)	W108*	probably null	Het
Trappc11	A	G	8: 47,981,036 (GRCm39)	V135A	possibly damaging	Het
Unk	T	C	11: 115,947,160 (GRCm39)	S598P	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp729a	A	T	13: 67,769,805 (GRCm39)	H141Q	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
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
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

Posted On

2014-05-07