Incidental Mutation 'IGL00943:Nvl'
ID26671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nvl
Ensembl Gene ENSMUSG00000026516
Gene Namenuclear VCP-like
Synonyms1200009I24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL00943
Quality Score
Status
Chromosome1
Chromosomal Location181087138-181144204 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 181101634 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 727 (D727E)
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 possibly damaging
Transcript: ENSMUST00000027797
AA Change: D727E

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: D727E

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,790,812 Y372C probably damaging Het
Carmil1 C T 13: 24,111,886 V382M possibly damaging Het
Chkb A T 15: 89,428,748 V138E probably damaging Het
Col7a1 G T 9: 108,977,697 G2434* probably null Het
Cpa3 A G 3: 20,228,815 V156A possibly damaging Het
Dicer1 A C 12: 104,696,772 S1517A possibly damaging Het
Dnajc14 T G 10: 128,816,806 S578A possibly damaging Het
Dse A G 10: 34,162,805 Y201H probably damaging Het
Fam114a2 A T 11: 57,514,273 M1K probably null Het
Gm4847 A T 1: 166,642,353 S50R probably benign Het
Gpr156 A G 16: 37,988,576 Y220C probably damaging Het
Grxcr1 T C 5: 68,032,295 probably benign Het
Hspg2 T C 4: 137,562,201 V3824A probably benign Het
Ino80b A T 6: 83,124,148 L116Q probably damaging Het
Inpp5e A G 2: 26,400,151 probably benign Het
Lrrc8e T C 8: 4,235,658 C628R probably damaging Het
Maml1 A G 11: 50,258,714 V733A probably damaging Het
Mcm9 A G 10: 53,548,589 L635P probably damaging Het
Myh15 A T 16: 49,165,813 I1549F probably damaging Het
Myo1b T A 1: 51,784,487 I414F probably damaging Het
Nlrc3 T A 16: 3,965,117 I159F possibly damaging Het
Olfr365 T C 2: 37,202,171 V310A probably benign Het
Pgs1 A G 11: 118,005,540 I348V probably benign Het
Pkp1 A T 1: 135,878,184 V592E probably damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Slc26a7 T C 4: 14,506,477 D624G probably benign Het
Slc39a6 A G 18: 24,589,745 probably null Het
Sorbs1 T C 19: 40,295,040 probably benign Het
Tnfrsf19 A T 14: 61,024,182 M56K possibly damaging Het
Togaram2 C T 17: 71,725,004 R873C probably damaging Het
Tubgcp6 G A 15: 89,122,397 R141* probably null Het
Vill A G 9: 119,063,312 E337G probably damaging Het
Vmn1r17 A G 6: 57,361,200 L11S possibly damaging Het
Other mutations in Nvl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00848:Nvl APN 1 181105125 missense probably damaging 1.00
IGL01956:Nvl APN 1 181134944 missense probably benign 0.00
IGL02657:Nvl APN 1 181106976 missense probably damaging 1.00
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 unclassified 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
X0067:Nvl UTSW 1 181139158 missense possibly damaging 0.58
Posted On2013-04-17