Incidental Mutation 'IGL03059:Nap1l4'
ID409390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nap1l4
Ensembl Gene ENSMUSG00000059119
Gene Namenucleosome assembly protein 1-like 4
SynonymsNap2, D7Wsu30e, 2810410H14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL03059
Quality Score
Status
Chromosome7
Chromosomal Location143513579-143549106 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 143527165 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072727] [ENSMUST00000207948] [ENSMUST00000208190] [ENSMUST00000209098]
Predicted Effect probably null
Transcript: ENSMUST00000072727
SMART Domains Protein: ENSMUSP00000072510
Gene: ENSMUSG00000059119

DomainStartEndE-ValueType
Pfam:NAP 65 338 5e-103 PFAM
low complexity region 341 370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207244
Predicted Effect probably null
Transcript: ENSMUST00000207948
Predicted Effect probably null
Transcript: ENSMUST00000208190
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208282
Predicted Effect probably null
Transcript: ENSMUST00000208317
Predicted Effect probably null
Transcript: ENSMUST00000209098
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 nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,899,005 V244A possibly damaging Het
Ccdc187 C A 2: 26,294,241 R48M probably null Het
Cnga2 G A X: 72,008,272 R251H probably damaging Het
Cop1 A C 1: 159,306,709 K174Q probably damaging Het
Cul9 T C 17: 46,538,987 D512G probably damaging Het
Flt4 G A 11: 49,642,307 A1140T probably damaging Het
Galnt3 C T 2: 66,093,610 R438H probably damaging Het
Gatm G A 2: 122,609,700 A86V probably damaging Het
Klhl28 C T 12: 64,951,566 A385T probably benign Het
Klhl40 T A 9: 121,778,137 V121E probably damaging Het
L1cam T A X: 73,867,024 H30L probably benign Het
Lss A T 10: 76,532,026 probably benign Het
Mrnip A T 11: 50,199,769 Q253H probably damaging Het
Mroh9 A T 1: 163,024,636 F828Y possibly damaging Het
Mst1 T C 9: 108,084,813 C668R probably damaging Het
Nadk A G 4: 155,586,796 E143G probably benign Het
Nme8 A G 13: 19,652,244 I254T possibly damaging Het
Olfr1382 A G 11: 49,535,194 Y3C probably benign Het
Olfr295 A G 7: 86,585,571 I99V probably benign Het
Olfr374 T A 8: 72,109,998 L144Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkd1l3 C T 8: 109,648,367 L1491F probably damaging Het
Plec G T 15: 76,175,768 T3488N probably damaging Het
Plk2 T G 13: 110,399,134 S497A probably benign Het
Polr1a G A 6: 71,936,512 V617I probably benign Het
Prelid3a C A 18: 67,476,839 Y112* probably null Het
Rnf113a2 C A 12: 84,417,476 S47R possibly damaging Het
Rtel1 A G 2: 181,350,183 N410D probably benign Het
Ryr3 C T 2: 112,800,047 A2140T probably damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Sphkap T A 1: 83,257,242 Q1621L probably damaging Het
Svs1 A T 6: 48,987,415 Y119F probably benign Het
Tcrg-C1 A T 13: 19,215,902 K123* probably null Het
Ttn T A 2: 76,909,519 S3559C probably benign Het
Ubr4 C T 4: 139,480,676 R4923W probably damaging Het
Vac14 T C 8: 110,710,452 L599P probably damaging Het
Wdr5 T C 2: 27,519,734 probably benign Het
Other mutations in Nap1l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Nap1l4 APN 7 143527316 splice site probably null
IGL02696:Nap1l4 APN 7 143524161 missense possibly damaging 0.67
IGL02710:Nap1l4 APN 7 143524261 missense probably benign 0.00
IGL03164:Nap1l4 APN 7 143538216 critical splice donor site probably null
IGL03240:Nap1l4 APN 7 143538245 missense probably benign 0.00
ballerina UTSW 7 143534463 intron probably null
R1576:Nap1l4 UTSW 7 143538216 critical splice donor site probably null
R1705:Nap1l4 UTSW 7 143541760 start codon destroyed probably null 1.00
R1967:Nap1l4 UTSW 7 143534287 missense probably damaging 0.99
R1989:Nap1l4 UTSW 7 143527184 missense probably damaging 0.99
R3734:Nap1l4 UTSW 7 143534395 unclassified probably null
R4799:Nap1l4 UTSW 7 143534463 intron probably null
R5367:Nap1l4 UTSW 7 143534298 missense probably damaging 0.99
Posted On2016-08-02