Incidental Mutation 'R0020:Nap1l1'
ID 8363
Institutional Source Beutler Lab
Gene Symbol Nap1l1
Ensembl Gene ENSMUSG00000058799
Gene Name nucleosome assembly protein 1-like 1
Synonyms D10Ertd68e
MMRRC Submission 038315-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R0020 (G1)
Quality Score
Status Validated
Chromosome 10
Chromosomal Location 111473223-111498150 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 111491023 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 148 (E148D)
Ref Sequence ENSEMBL: ENSMUSP00000151700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065917] [ENSMUST00000171797] [ENSMUST00000217908] [ENSMUST00000218828] [ENSMUST00000219143] [ENSMUST00000219961]
AlphaFold P28656
Predicted Effect probably benign
Transcript: ENSMUST00000065917
AA Change: E148D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: E148D

DomainStartEndE-ValueType
coiled coil region 6 31 N/A INTRINSIC
Pfam:NAP 75 346 1.5e-96 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171797
AA Change: E175D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: E175D

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
coiled coil region 33 58 N/A INTRINSIC
Pfam:NAP 103 372 9.6e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217908
AA Change: E148D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000218828
AA Change: E148D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218982
Predicted Effect probably benign
Transcript: ENSMUST00000219143
AA Change: E148D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219718
Predicted Effect probably benign
Transcript: ENSMUST00000219961
AA Change: E148D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.0585 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 76.6%
  • 10x: 60.3%
  • 20x: 42.3%
Validation Efficiency 92% (100/109)
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. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A T 19: 29,716,197 D2032E probably damaging Het
Agfg2 C T 5: 137,653,802 V432M probably benign Het
Akap11 A T 14: 78,518,177 I74K probably benign Het
Atf2 T C 2: 73,846,284 D122G possibly damaging Het
AW549877 T C 15: 3,991,868 probably benign Het
C330027C09Rik A T 16: 49,001,612 H201L probably damaging Het
Ccser1 C A 6: 61,313,804 T490K possibly damaging Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cnga4 G T 7: 105,405,677 R53L probably damaging Het
Col6a3 T A 1: 90,811,550 I319F probably damaging Het
Cst11 T A 2: 148,771,333 Y24F probably damaging Het
Cstb T A 10: 78,427,336 V65E probably benign Het
Cyp2j11 G A 4: 96,307,404 H352Y probably benign Het
Ezr G T 17: 6,742,727 Q308K probably damaging Het
F3 A T 3: 121,731,616 N169Y probably damaging Het
Fbp2 A T 13: 62,854,048 F118I probably damaging Het
Fcho1 C T 8: 71,716,870 G131R probably benign Het
Fhl5 A T 4: 25,200,054 V260E probably benign Het
Gm6614 A T 6: 141,972,350 V600E possibly damaging Het
Grasp T C 15: 101,230,552 V157A probably damaging Het
Kcna10 A T 3: 107,195,420 I456F probably damaging Het
Loxl2 T C 14: 69,660,793 V232A probably damaging Het
Megf10 G T 18: 57,287,893 V868F possibly damaging Het
Megf9 A G 4: 70,488,149 V260A probably benign Het
Nampt A T 12: 32,841,013 S278C probably damaging Het
Pamr1 C T 2: 102,642,078 T574I probably benign Het
Pde4d T A 13: 109,954,570 C35S possibly damaging Het
Pkd1l1 A G 11: 8,875,765 probably benign Het
Pkd2 A G 5: 104,503,516 E910G probably damaging Het
Pkhd1l1 A G 15: 44,556,872 Y3002C probably damaging Het
Ppp6r2 T A 15: 89,259,139 M163K probably damaging Het
Prdm4 T C 10: 85,907,623 N256S probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Scube2 A G 7: 109,830,888 probably benign Het
Sptbn5 T A 2: 120,065,631 I779F probably damaging Het
Uspl1 A G 5: 149,209,779 T447A probably damaging Het
Zfp282 T G 6: 47,880,009 W59G probably damaging Het
Zfp629 C G 7: 127,611,169 E489D probably benign Het
Zfp746 C A 6: 48,064,707 A362S probably benign Het
Other mutations in Nap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Nap1l1 APN 10 111486675 missense probably damaging 0.98
IGL01453:Nap1l1 APN 10 111492978 missense probably benign 0.09
IGL01734:Nap1l1 APN 10 111492899 missense probably benign 0.26
IGL01843:Nap1l1 APN 10 111492911 missense possibly damaging 0.93
PIT1430001:Nap1l1 UTSW 10 111486736 missense probably damaging 1.00
PIT4131001:Nap1l1 UTSW 10 111486722 missense probably null
R0020:Nap1l1 UTSW 10 111491023 missense probably benign 0.01
R0131:Nap1l1 UTSW 10 111485509 missense probably benign 0.17
R0131:Nap1l1 UTSW 10 111485509 missense probably benign 0.17
R0132:Nap1l1 UTSW 10 111485509 missense probably benign 0.17
R0601:Nap1l1 UTSW 10 111490363 splice site probably benign
R1576:Nap1l1 UTSW 10 111494820 missense probably damaging 1.00
R1619:Nap1l1 UTSW 10 111493379 missense possibly damaging 0.77
R1969:Nap1l1 UTSW 10 111491053 missense probably benign 0.03
R2071:Nap1l1 UTSW 10 111492900 missense possibly damaging 0.46
R2383:Nap1l1 UTSW 10 111493411 missense probably damaging 1.00
R3836:Nap1l1 UTSW 10 111495322 splice site probably null
R3837:Nap1l1 UTSW 10 111495322 splice site probably null
R3838:Nap1l1 UTSW 10 111495322 splice site probably null
R3839:Nap1l1 UTSW 10 111495322 splice site probably null
R4084:Nap1l1 UTSW 10 111490077 missense possibly damaging 0.92
R4609:Nap1l1 UTSW 10 111492880 nonsense probably null
R4985:Nap1l1 UTSW 10 111490083 missense probably benign 0.01
R5906:Nap1l1 UTSW 10 111491030 nonsense probably null
R5982:Nap1l1 UTSW 10 111495368 missense possibly damaging 0.71
R6522:Nap1l1 UTSW 10 111494223 missense probably damaging 0.99
R6868:Nap1l1 UTSW 10 111494808 missense probably damaging 1.00
R7134:Nap1l1 UTSW 10 111494794 critical splice acceptor site probably null
R7202:Nap1l1 UTSW 10 111491103 missense probably damaging 1.00
R7789:Nap1l1 UTSW 10 111490456 missense probably benign 0.01
R7950:Nap1l1 UTSW 10 111492908 missense probably damaging 1.00
R8404:Nap1l1 UTSW 10 111481301 start codon destroyed probably null 0.53
R8502:Nap1l1 UTSW 10 111481301 start codon destroyed probably null 0.53
R8933:Nap1l1 UTSW 10 111492849 missense probably benign 0.04
Posted On 2012-11-27