Incidental Mutation 'P0027:Nap1l5'
ID8117
Institutional Source Beutler Lab
Gene Symbol Nap1l5
Ensembl Gene ENSMUSG00000055430
Gene Namenucleosome assembly protein 1-like 5
Synonyms1110020M21Rik
MMRRC Submission 038280-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #P0027 (G1)
Quality Score
Status Validated
Chromosome6
Chromosomal Location58905233-58907076 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58906825 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 48 (N48I)
Ref Sequence ENSEMBL: ENSMUSP00000062780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000059539] [ENSMUST00000204629] [ENSMUST00000205101]
Predicted Effect probably benign
Transcript: ENSMUST00000031823
SMART Domains Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804

DomainStartEndE-ValueType
Pfam:RCC1_2 36 65 3.3e-11 PFAM
Pfam:RCC1 52 99 3.6e-15 PFAM
Pfam:RCC1_2 86 115 1.1e-10 PFAM
Pfam:RCC1 102 152 1.4e-16 PFAM
Pfam:RCC1_2 139 168 2.1e-9 PFAM
Pfam:RCC1 155 205 2.6e-16 PFAM
Pfam:RCC1_2 193 221 1.5e-9 PFAM
Pfam:RCC1 208 257 4.7e-17 PFAM
Pfam:RCC1_2 244 273 8e-9 PFAM
Pfam:RCC1 260 309 2.6e-16 PFAM
Pfam:RCC1_2 296 326 2.3e-7 PFAM
Pfam:RCC1 313 377 3.8e-9 PFAM
HECTc 721 913 2.08e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041401
SMART Domains Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804

DomainStartEndE-ValueType
Pfam:RCC1_2 36 65 1.7e-11 PFAM
Pfam:RCC1 52 99 1.6e-15 PFAM
Pfam:RCC1_2 86 115 1.1e-10 PFAM
Pfam:RCC1 102 152 7.3e-16 PFAM
Pfam:RCC1_2 139 168 1.3e-9 PFAM
Pfam:RCC1 155 205 1.4e-16 PFAM
Pfam:RCC1_2 193 221 5e-10 PFAM
Pfam:RCC1 208 257 1.4e-16 PFAM
Pfam:RCC1_2 244 273 6.1e-8 PFAM
Pfam:RCC1 260 309 1.7e-14 PFAM
Pfam:RCC1_2 296 326 1.1e-7 PFAM
Pfam:RCC1 313 377 6.6e-11 PFAM
HECTc 721 1050 5.79e-157 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000059539
AA Change: N48I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062780
Gene: ENSMUSG00000055430
AA Change: N48I

DomainStartEndE-ValueType
low complexity region 34 54 N/A INTRINSIC
Pfam:NAP 66 154 3.8e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131132
Predicted Effect probably benign
Transcript: ENSMUST00000204629
SMART Domains Protein: ENSMUSP00000145319
Gene: ENSMUSG00000029804

DomainStartEndE-ValueType
Pfam:HECT 1 97 1.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205101
SMART Domains Protein: ENSMUSP00000145365
Gene: ENSMUSG00000055430

DomainStartEndE-ValueType
SCOP:d1qbkb_ 1 58 5e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205139
Meta Mutation Damage Score 0.0700 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 72.9%
  • 10x: 45.3%
  • 20x: 23.4%
Validation Efficiency 93% (53/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicd2 C A 13: 49,379,651 P571Q probably benign Het
Camta2 A G 11: 70,684,005 I75T probably damaging Het
Casp1 A T 9: 5,299,851 H108L probably benign Het
Copa A G 1: 172,111,948 E593G possibly damaging Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Kdm2a C T 19: 4,343,245 probably benign Het
Klhl14 T C 18: 21,558,135 Y446C probably damaging Het
Lims1 A G 10: 58,418,455 N344D probably benign Het
Marco A T 1: 120,474,712 W502R probably damaging Het
Ms4a10 T C 19: 10,964,128 D159G probably damaging Het
Msi2 A T 11: 88,394,597 M207K probably damaging Het
Myh15 C T 16: 49,081,208 T249I possibly damaging Het
Nup188 A G 2: 30,322,681 D632G probably damaging Het
Olfr354 T C 2: 36,907,570 V208A probably benign Het
Papd7 G A 13: 69,506,955 R224* probably null Het
Phactr4 G C 4: 132,371,090 T252R probably damaging Het
Sec14l2 C T 11: 4,103,673 probably null Het
Sim2 C A 16: 94,109,422 H228N probably benign Het
Tmem26 A G 10: 68,778,718 E321G probably benign Het
Yif1b T C 7: 29,238,613 probably null Het
Other mutations in Nap1l5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0685:Nap1l5 UTSW 6 58906772 missense possibly damaging 0.52
R5524:Nap1l5 UTSW 6 58906778 missense possibly damaging 0.81
R7890:Nap1l5 UTSW 6 58906888 missense probably damaging 1.00
R7896:Nap1l5 UTSW 6 58906520 missense probably damaging 0.99
R7973:Nap1l5 UTSW 6 58906888 missense probably damaging 1.00
R7979:Nap1l5 UTSW 6 58906520 missense probably damaging 0.99
Posted On2012-11-20