Incidental Mutation 'IGL00848:Nvl'
ID 12816
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 # IGL00848
Quality Score
Status
Chromosome 1
Chromosomal Location 180914703-180971769 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180932690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 709 (D709V)
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: D709V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: D709V

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,370,237 (GRCm39) F508L probably damaging Het
Adgra3 C T 5: 50,159,291 (GRCm39) G320R probably damaging Het
Arhgef40 G A 14: 52,224,884 (GRCm39) V10M probably damaging Het
Birc6 C T 17: 75,003,388 (GRCm39) Q4739* probably null Het
Cdcp3 A G 7: 130,848,453 (GRCm39) E869G probably damaging Het
Cdh20 C T 1: 104,861,981 (GRCm39) H54Y probably benign Het
Cep112 A G 11: 108,362,886 (GRCm39) D202G probably damaging Het
Cfhr2 T A 1: 139,758,970 (GRCm39) T27S probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Copa T A 1: 171,938,255 (GRCm39) C523S possibly damaging Het
Copz1 T A 15: 103,207,176 (GRCm39) probably benign Het
Crybg1 A C 10: 43,843,814 (GRCm39) probably null Het
Cyp3a11 A T 5: 145,799,275 (GRCm39) I304N probably damaging Het
Eif2d C T 1: 131,092,173 (GRCm39) Q315* probably null Het
Fgfr4 A G 13: 55,306,983 (GRCm39) E224G probably damaging Het
Fndc3b A T 3: 27,505,658 (GRCm39) L870Q probably damaging Het
Glt8d2 C T 10: 82,497,999 (GRCm39) probably null Het
Gpat3 A T 5: 101,041,010 (GRCm39) M357L probably benign Het
Hrnr A T 3: 93,230,204 (GRCm39) K147N unknown Het
Kbtbd3 T A 9: 4,331,184 (GRCm39) S519R probably damaging Het
Kcnv1 A G 15: 44,976,624 (GRCm39) I221T probably benign Het
Khdrbs2 C T 1: 32,511,833 (GRCm39) A266V probably benign Het
Lmtk2 A G 5: 144,113,216 (GRCm39) E1312G probably benign Het
Mos T C 4: 3,871,459 (GRCm39) N119S probably damaging Het
Mtpap C T 18: 4,380,717 (GRCm39) H132Y probably benign Het
Myo18b G A 5: 113,019,351 (GRCm39) T642I probably damaging Het
Myo5c A G 9: 75,196,463 (GRCm39) E1303G probably benign Het
Napepld A T 5: 21,888,191 (GRCm39) M86K probably benign Het
Pak1ip1 A T 13: 41,166,099 (GRCm39) E341D probably benign Het
Pgghg G A 7: 140,522,317 (GRCm39) G32D probably damaging Het
Phlpp1 G A 1: 106,303,985 (GRCm39) R1096H probably damaging Het
Phlpp1 C T 1: 106,267,178 (GRCm39) T697M probably damaging Het
Piwil4 T G 9: 14,638,707 (GRCm39) T273P probably damaging Het
Pkd2l1 A T 19: 44,180,718 (GRCm39) probably benign Het
Polr3b A G 10: 84,516,241 (GRCm39) D623G probably damaging Het
Pop1 A G 15: 34,508,875 (GRCm39) T317A probably benign Het
Prune2 A T 19: 17,096,482 (GRCm39) K662I probably damaging Het
Ptger4 T C 15: 5,264,589 (GRCm39) I356V probably benign Het
Rhbdd1 T C 1: 82,318,165 (GRCm39) L16P possibly damaging Het
Rps11 C T 7: 44,772,925 (GRCm39) R22Q probably benign Het
Sfxn2 A T 19: 46,578,596 (GRCm39) I204F probably damaging Het
Slc26a9 C T 1: 131,685,266 (GRCm39) S365F probably damaging Het
Slc47a2 C T 11: 61,193,059 (GRCm39) V565M probably benign Het
Spns1 T C 7: 125,970,414 (GRCm39) probably null Het
Stk3 T A 15: 35,114,768 (GRCm39) E48V possibly damaging Het
Svs3b T C 2: 164,098,021 (GRCm39) E100G probably damaging Het
Tjp1 T C 7: 64,952,942 (GRCm39) Q1464R probably benign Het
Tspan10 T C 11: 120,335,096 (GRCm39) S69P probably benign Het
Usp32 T C 11: 84,942,007 (GRCm39) probably benign Het
Vps45 G T 3: 95,964,285 (GRCm39) probably benign Het
Zfp106 A T 2: 120,343,208 (GRCm39) N1790K probably damaging Het
Zfp704 A T 3: 9,630,299 (GRCm39) S21T possibly damaging Het
Other mutations in Nvl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-12-06