Incidental Mutation 'IGL03164:Nap1l4'
ID 411572
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 # IGL03164
Quality Score
Status
Chromosome 7
Chromosomal Location 143067316-143102843 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 143091953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072727] [ENSMUST00000207870] [ENSMUST00000207948] [ENSMUST00000208093] [ENSMUST00000208190] [ENSMUST00000209098]
AlphaFold Q78ZA7
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 probably benign
Transcript: ENSMUST00000207870
Predicted Effect probably benign
Transcript: ENSMUST00000207948
Predicted Effect probably null
Transcript: ENSMUST00000208093
Predicted Effect probably null
Transcript: ENSMUST00000208190
Predicted Effect probably benign
Transcript: ENSMUST00000208317
Predicted Effect probably null
Transcript: ENSMUST00000209098
Meta Mutation Damage Score 0.9595 question?
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,070 (GRCm39) D256G probably damaging Het
Abcb11 A T 2: 69,122,343 (GRCm39) L380* probably null Het
Aco1 A T 4: 40,167,116 (GRCm39) N110I probably benign Het
Adamts9 T C 6: 92,866,918 (GRCm39) D126G probably damaging Het
Anks1b T G 10: 89,878,554 (GRCm39) V121G probably damaging Het
Ap1s3 A G 1: 79,602,887 (GRCm39) L40P probably damaging Het
Cd19 C A 7: 126,012,681 (GRCm39) M237I possibly damaging Het
Chil6 T C 3: 106,301,714 (GRCm39) T129A probably benign Het
Chtf18 A G 17: 25,945,816 (GRCm39) M94T probably benign Het
Clstn2 G T 9: 97,681,462 (GRCm39) D59E possibly damaging Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Ctnnbl1 A C 2: 157,659,681 (GRCm39) M253L probably benign Het
Erg T C 16: 95,210,730 (GRCm39) T41A possibly damaging Het
Gjd3 T A 11: 102,691,547 (GRCm39) N152I possibly damaging Het
Ints1 A G 5: 139,738,490 (GRCm39) L2084P probably damaging Het
Isoc1 C T 18: 58,806,404 (GRCm39) S238L probably damaging Het
Kdm5a T A 6: 120,415,980 (GRCm39) D1633E probably damaging Het
Krt76 T C 15: 101,795,886 (GRCm39) D428G possibly damaging Het
Lrp2 G T 2: 69,295,043 (GRCm39) T3425K probably damaging Het
Lta4h T C 10: 93,306,659 (GRCm39) probably benign Het
Nlrp5 T A 7: 23,117,798 (GRCm39) Y507* probably null Het
Nps T C 7: 134,874,039 (GRCm39) S53P probably damaging Het
Oprk1 A T 1: 5,669,087 (GRCm39) I178F probably damaging Het
Or2a12 C T 6: 42,905,064 (GRCm39) R300* probably null Het
Or5p1 T C 7: 107,916,901 (GRCm39) S267P probably damaging Het
Osgin2 G T 4: 16,001,938 (GRCm39) S204R probably benign Het
Otop1 G T 5: 38,445,306 (GRCm39) G155* probably null Het
Peli3 A G 19: 4,986,144 (GRCm39) probably null Het
Pex7 T A 10: 19,770,461 (GRCm39) probably benign Het
Pfkm T C 15: 98,029,843 (GRCm39) L749P probably damaging Het
Pwp1 T A 10: 85,714,367 (GRCm39) F103Y probably benign Het
Rhod T C 19: 4,482,829 (GRCm39) K63E possibly damaging Het
Rtl1 T C 12: 109,559,367 (GRCm39) E824G probably damaging Het
Sema4d A G 13: 51,862,958 (GRCm39) F467L possibly damaging Het
Septin10 T C 10: 59,016,921 (GRCm39) E201G probably damaging Het
Slc37a3 G A 6: 39,322,237 (GRCm39) T389I probably benign Het
Slco2b1 C T 7: 99,334,743 (GRCm39) A243T probably damaging Het
Sorbs2 A G 8: 46,235,911 (GRCm39) T187A probably benign Het
Supt20 T A 3: 54,620,609 (GRCm39) D389E probably benign Het
Tchh A G 3: 93,352,699 (GRCm39) D713G unknown Het
Trappc10 T C 10: 78,056,076 (GRCm39) R209G probably damaging Het
Unc119 A G 11: 78,239,002 (GRCm39) D176G probably damaging Het
Usb1 G A 8: 96,060,112 (GRCm39) R21Q probably damaging Het
Other mutations in Nap1l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Nap1l4 APN 7 143,081,053 (GRCm39) splice site probably null
IGL02696:Nap1l4 APN 7 143,077,898 (GRCm39) missense possibly damaging 0.67
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
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 2016-08-02