Mutagenetix > Incidental Mutation

Incidental Mutation 'R6143:Nvl'

488658

Institutional Source

Beutler Lab

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

MMRRC Submission

044290-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180914703-180971769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 180962560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 137 (T137P)

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: T137P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: T137P

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (62/63)

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
A730061H03Rik	A	G	14: 55,797,736 (GRCm39)		probably benign	Het
Abcd2	A	T	15: 91,075,150 (GRCm39)	V221E	possibly damaging	Het
Arhgap39	T	A	15: 76,614,606 (GRCm39)	K853*	probably null	Het
Art2a	T	C	7: 101,204,430 (GRCm39)	D36G	possibly damaging	Het
Atp13a1	C	T	8: 70,258,010 (GRCm39)	P922S	probably benign	Het
Brwd1	C	T	16: 95,804,156 (GRCm39)	G2005R	probably benign	Het
Bzw2	A	T	12: 36,170,725 (GRCm39)	M133K	probably benign	Het
Cacna1s	T	G	1: 136,004,496 (GRCm39)	S346A	probably damaging	Het
Cebpb	C	A	2: 167,531,220 (GRCm39)	D93E	probably benign	Het
Cep162	C	A	9: 87,094,904 (GRCm39)		probably null	Het
Col9a2	A	T	4: 120,911,060 (GRCm39)	Y565F	probably damaging	Het
Csgalnact1	T	A	8: 68,826,202 (GRCm39)	N372I	probably damaging	Het
Csmd1	T	C	8: 16,138,315 (GRCm39)	D1579G	probably damaging	Het
Cyfip2	A	C	11: 46,144,792 (GRCm39)	Y687*	probably null	Het
Cyp2d34	G	A	15: 82,504,977 (GRCm39)	R28W	probably benign	Het
Dbndd2	C	A	2: 164,330,206 (GRCm39)	Q13K	probably damaging	Het
Dnah5	T	A	15: 28,233,377 (GRCm39)	S245R	probably benign	Het
Dnajb5	A	T	4: 42,956,990 (GRCm39)	T226S	probably damaging	Het
Dnmt1	T	C	9: 20,838,430 (GRCm39)	E211G	probably benign	Het
Dnpep	G	A	1: 75,291,872 (GRCm39)	H214Y	probably damaging	Het
Drc3	G	A	11: 60,261,406 (GRCm39)	V186M	possibly damaging	Het
Dvl3	A	G	16: 20,345,789 (GRCm39)	D413G	possibly damaging	Het
Dyrk4	C	T	6: 126,863,614 (GRCm39)		probably null	Het
Edc4	T	A	8: 106,612,506 (GRCm39)	D181E	probably damaging	Het
Enthd1	T	C	15: 80,393,487 (GRCm39)	Y247C	possibly damaging	Het
Gm5622	A	T	14: 51,892,372 (GRCm39)	R50S	possibly damaging	Het
Gpbp1	G	A	13: 111,603,389 (GRCm39)	T20I	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,410 (GRCm39)	Y276*	probably null	Het
Hsd3b7	A	C	7: 127,400,404 (GRCm39)	E51A	probably damaging	Het
Ighv5-16	G	T	12: 113,802,238 (GRCm39)	F87L	probably damaging	Het
Iqsec1	C	T	6: 90,786,666 (GRCm39)		probably null	Het
Irgm2	A	T	11: 58,111,435 (GRCm39)	E387D	possibly damaging	Het
Klhl23	C	A	2: 69,664,040 (GRCm39)	P463Q	possibly damaging	Het
Mast4	A	T	13: 102,990,391 (GRCm39)	N43K	probably damaging	Het
Mme	T	G	3: 63,207,532 (GRCm39)		probably null	Het
Mrps31	T	G	8: 22,901,539 (GRCm39)	S20A	probably benign	Het
Myo5c	A	G	9: 75,157,091 (GRCm39)	R176G	probably damaging	Het
Naf1	T	C	8: 67,330,347 (GRCm39)	V291A	possibly damaging	Het
Nbeal1	A	T	1: 60,290,466 (GRCm39)	H1021L	possibly damaging	Het
Ncaph2	T	C	15: 89,248,206 (GRCm39)		probably null	Het
Neurod4	T	G	10: 130,106,869 (GRCm39)	Y135S	probably damaging	Het
Nrp2	A	T	1: 62,799,974 (GRCm39)	N396I	probably damaging	Het
Or5p59	A	G	7: 107,703,335 (GRCm39)	D273G	probably damaging	Het
Papola	T	C	12: 105,793,219 (GRCm39)	V513A	probably benign	Het
Pcdhgc4	T	A	18: 37,950,653 (GRCm39)	S690T	possibly damaging	Het
Pck1	A	T	2: 172,995,805 (GRCm39)	D101V	probably damaging	Het
Pdilt	T	A	7: 119,094,265 (GRCm39)	N329Y	probably damaging	Het
Pfkl	T	A	10: 77,825,447 (GRCm39)	R648W	probably damaging	Het
Prtn3	T	A	10: 79,716,382 (GRCm39)	I63N	probably damaging	Het
Psg22	C	T	7: 18,456,723 (GRCm39)	A163V	probably benign	Het
Pten	A	G	19: 32,777,485 (GRCm39)	T160A	possibly damaging	Het
Retreg2	A	G	1: 75,123,530 (GRCm39)	D449G	probably damaging	Het
Scn9a	T	C	2: 66,317,868 (GRCm39)	Y1531C	probably benign	Het
Sgk2	T	A	2: 162,841,174 (GRCm39)	C195S	probably damaging	Het
Slc19a3	C	T	1: 83,004,060 (GRCm39)	V14I	probably benign	Het
Snai2	A	T	16: 14,526,107 (GRCm39)	R253*	probably null	Het
Speg	G	A	1: 75,391,031 (GRCm39)	V1512I	probably damaging	Het
Srsf1	G	A	11: 87,940,425 (GRCm39)		probably benign	Het
Tctn3	G	T	19: 40,597,671 (GRCm39)	T190N	probably benign	Het
Tmprss11f	T	A	5: 86,687,558 (GRCm39)	I117L	probably benign	Het
Ttn	G	A	2: 76,682,413 (GRCm39)	R959*	probably null	Het
Vmn2r118	G	T	17: 55,899,871 (GRCm39)	L678I	possibly damaging	Het
Vps13b	T	C	15: 35,668,884 (GRCm39)	S1594P	probably damaging	Het
Vps13d	G	T	4: 144,875,135 (GRCm39)	H1791N	possibly 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
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'- TTGGTCATCTGATAGGTCCAAGG -3'
(R):5'- CCAAGAGTGGTTTAGTAGTTTCAG -3'

Sequencing Primer
(F):5'- TCTGATAGGTCCAAGGGAAGACTTTC -3'
(R):5'- GTTTGGGAGTTTTATAACTGACAACC -3'

Posted On

2017-10-10