Incidental Mutation 'IGL02696:Nap1l4'
ID 303925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nap1l4
Ensembl Gene ENSMUSG00000059119
Gene Name nucleosome assembly protein 1-like 4
Synonyms 2810410H14Rik, Nap2, D7Wsu30e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL02696
Quality Score
Status
Chromosome 7
Chromosomal Location 143067316-143102843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 143077898 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q78ZA7
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: 29,704,628 (GRCm39) T43A probably benign Het
Adgrd1 T C 5: 129,217,918 (GRCm39) probably benign Het
Asxl1 T A 2: 153,242,115 (GRCm39) Y888* probably null Het
Atp8b5 T C 4: 43,369,634 (GRCm39) V924A possibly damaging Het
AU040320 T C 4: 126,736,380 (GRCm39) L821P probably damaging Het
Capn11 T C 17: 45,943,635 (GRCm39) N596S probably damaging Het
Cnot1 C A 8: 96,471,645 (GRCm39) V1219F probably benign Het
Cope T C 8: 70,763,143 (GRCm39) probably null Het
Crim1 A G 17: 78,587,402 (GRCm39) E169G probably damaging Het
Csmd3 A T 15: 47,533,065 (GRCm39) F2395I probably benign Het
Ctso A C 3: 81,858,691 (GRCm39) D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,128 (GRCm39) P577S probably benign Het
D930048N14Rik T A 11: 51,544,821 (GRCm39) probably benign Het
Dck T A 5: 88,920,666 (GRCm39) S129T probably damaging Het
Dlc1 A G 8: 37,041,326 (GRCm39) V1301A possibly damaging Het
Dusp16 G A 6: 134,695,398 (GRCm39) R478C probably damaging Het
Ermap C T 4: 119,044,904 (GRCm39) R49K possibly damaging Het
Flnc A G 6: 29,446,697 (GRCm39) K969R probably damaging Het
Gjb2 A T 14: 57,337,769 (GRCm39) F146L probably damaging Het
Hdc A T 2: 126,436,220 (GRCm39) D550E probably damaging Het
Hs6st3 A T 14: 120,106,731 (GRCm39) I380F probably damaging Het
Htr1d T C 4: 136,170,722 (GRCm39) V317A probably benign Het
Kalrn A T 16: 34,040,484 (GRCm39) M963K probably damaging Het
Kl T A 5: 150,904,450 (GRCm39) S401T probably benign Het
Lair1 A G 7: 4,013,848 (GRCm39) probably benign Het
Lrp5 C T 19: 3,652,253 (GRCm39) V1206I probably benign Het
Matn4 A G 2: 164,238,758 (GRCm39) F343S probably benign Het
Mrgpra4 G T 7: 47,631,251 (GRCm39) R117S possibly damaging Het
Myh14 T C 7: 44,314,530 (GRCm39) Y131C probably damaging Het
Oas1c T C 5: 120,943,528 (GRCm39) R204G probably benign Het
Or52e4 A G 7: 104,705,569 (GRCm39) T39A probably benign Het
Or8k25 T A 2: 86,243,959 (GRCm39) T146S probably benign Het
Pakap T A 4: 57,854,663 (GRCm39) D58E probably damaging Het
Pin1 G A 9: 20,574,531 (GRCm39) G150E probably benign Het
R3hdm2 T C 10: 127,300,888 (GRCm39) probably null Het
Rai1 C A 11: 60,084,782 (GRCm39) H1843Q probably benign Het
Siae G T 9: 37,542,680 (GRCm39) A194S probably damaging Het
Slc6a12 G T 6: 121,340,211 (GRCm39) V485L probably benign Het
Stil T G 4: 114,898,692 (GRCm39) S1107R probably damaging Het
Syt16 T C 12: 74,176,185 (GRCm39) V18A possibly damaging Het
Trpm8 A G 1: 88,275,773 (GRCm39) D457G probably damaging Het
Tshr A T 12: 91,460,103 (GRCm39) T66S possibly damaging Het
Ttn T A 2: 76,537,639 (GRCm39) Q34763L probably benign Het
Ubr2 T A 17: 47,274,691 (GRCm39) M830L probably benign Het
Ulk1 A G 5: 110,940,918 (GRCm39) F337S probably damaging Het
Other mutations in Nap1l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Nap1l4 APN 7 143,081,053 (GRCm39) splice site probably null
IGL02710:Nap1l4 APN 7 143,077,998 (GRCm39) missense probably benign 0.00
IGL03059:Nap1l4 APN 7 143,080,902 (GRCm39) critical splice donor site probably null
IGL03164:Nap1l4 APN 7 143,091,953 (GRCm39) critical splice donor site probably null
IGL03240:Nap1l4 APN 7 143,091,982 (GRCm39) missense probably benign 0.00
Ballerina UTSW 7 143,088,200 (GRCm39) splice site probably null
R1576:Nap1l4 UTSW 7 143,091,953 (GRCm39) critical splice donor site probably null
R1705:Nap1l4 UTSW 7 143,095,497 (GRCm39) start codon destroyed probably null 1.00
R1967:Nap1l4 UTSW 7 143,088,024 (GRCm39) missense probably damaging 0.99
R1989:Nap1l4 UTSW 7 143,080,921 (GRCm39) missense probably damaging 0.99
R3734:Nap1l4 UTSW 7 143,088,132 (GRCm39) unclassified probably benign
R4799:Nap1l4 UTSW 7 143,088,200 (GRCm39) splice site probably null
R5367:Nap1l4 UTSW 7 143,088,035 (GRCm39) missense probably damaging 0.99
R9751:Nap1l4 UTSW 7 143,088,132 (GRCm39) unclassified probably benign
Posted On 2015-04-16