Incidental Mutation 'IGL02696:Nap1l4'
ID303925
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: 0.156) question?
Stock #IGL02696
Quality Score
Status
Chromosome7
Chromosomal Location143513579-143549106 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 143524161 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 345 (N345K)
Ref Sequence ENSEMBL: ENSMUSP00000146474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072727] [ENSMUST00000207948] [ENSMUST00000208190] [ENSMUST00000209098]
Predicted Effect unknown
Transcript: ENSMUST00000072727
AA Change: N345K
SMART Domains Protein: ENSMUSP00000072510
Gene: ENSMUSG00000059119
AA Change: N345K

DomainStartEndE-ValueType
Pfam:NAP 65 338 5e-103 PFAM
low complexity region 341 370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207244
Predicted Effect probably benign
Transcript: ENSMUST00000207948
Predicted Effect possibly damaging
Transcript: ENSMUST00000208190
AA Change: N345K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208282
Predicted Effect probably benign
Transcript: ENSMUST00000208317
Predicted Effect possibly damaging
Transcript: ENSMUST00000209098
AA Change: N345K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Adgrd1 T C 5: 129,140,854 probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
D930048N14Rik T A 11: 51,653,994 probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Dusp16 G A 6: 134,718,435 R478C probably damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Hs6st3 A T 14: 119,869,319 I380F probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Matn4 A G 2: 164,396,838 F343S probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Syt16 T C 12: 74,129,411 V18A possibly damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S probably damaging Het
Other mutations in Nap1l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Nap1l4 APN 7 143527316 splice site probably null
IGL02710:Nap1l4 APN 7 143524261 missense probably benign 0.00
IGL03059:Nap1l4 APN 7 143527165 critical splice donor site probably null
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 On2015-04-16