Incidental Mutation 'IGL01843:Nap1l1'
ID 178096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nap1l1
Ensembl Gene ENSMUSG00000058799
Gene Name nucleosome assembly protein 1-like 1
Synonyms D10Ertd68e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.289) question?
Stock # IGL01843
Quality Score
Status
Chromosome 10
Chromosomal Location 111473223-111498150 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111492911 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 234 (R234G)
Ref Sequence ENSEMBL: ENSMUSP00000151700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065917] [ENSMUST00000171797] [ENSMUST00000217908] [ENSMUST00000218828] [ENSMUST00000219143] [ENSMUST00000219961]
AlphaFold P28656
Predicted Effect possibly damaging
Transcript: ENSMUST00000065917
AA Change: R234G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: R234G

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: R261G

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: R261G

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 possibly damaging
Transcript: ENSMUST00000217908
AA Change: R234G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218828
AA Change: R234G

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218982
Predicted Effect probably benign
Transcript: ENSMUST00000219143
AA Change: R234G

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219718
Predicted Effect possibly damaging
Transcript: ENSMUST00000219961
AA Change: R234G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
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. 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,553,338 probably benign Het
Ap1b1 T C 11: 5,039,169 L782P probably damaging Het
Arid1a T C 4: 133,681,454 D1914G unknown Het
C8a G A 4: 104,862,611 Q57* probably null Het
Cachd1 T C 4: 100,992,872 S1144P probably damaging Het
Cdh23 A T 10: 60,419,819 probably null Het
Cenpe A G 3: 135,218,507 Q198R possibly damaging Het
Cpne8 T C 15: 90,569,497 I228V probably benign Het
Cr2 A T 1: 195,150,914 probably benign Het
Csmd3 T C 15: 47,658,999 probably benign Het
Cyp2c23 A G 19: 44,005,607 V440A probably benign Het
Dag1 T C 9: 108,208,082 D620G possibly damaging Het
Dmxl1 T A 18: 49,878,382 L1202* probably null Het
Dnah3 T G 7: 119,943,575 H3538P probably benign Het
Dock8 A T 19: 25,089,928 Q312L probably benign Het
E2f7 T G 10: 110,774,735 V407G probably benign Het
F13b T C 1: 139,516,427 S500P probably damaging Het
F5 A G 1: 164,211,826 I2002V probably benign Het
Flywch1 T A 17: 23,760,345 M439L possibly damaging Het
Gcn1l1 C A 5: 115,619,700 A2488E probably damaging Het
Gria1 T C 11: 57,317,774 S832P probably damaging Het
Hnrnpr T C 4: 136,339,413 probably benign Het
Hps3 A G 3: 20,029,001 I177T probably benign Het
Irgm2 G A 11: 58,220,341 G298D probably benign Het
Kcnk7 G A 19: 5,706,202 G152D probably damaging Het
Man2a2 T C 7: 80,362,906 T620A probably benign Het
Mapk12 A G 15: 89,137,466 probably benign Het
Mapk6 T C 9: 75,390,290 Y315C probably damaging Het
Mdga2 T A 12: 66,723,131 probably null Het
Met T A 6: 17,491,701 I154N probably damaging Het
Olfm5 C A 7: 104,160,744 V137F possibly damaging Het
Olfr1423 G T 19: 12,036,677 H22N probably benign Het
Pcdha11 C T 18: 37,012,833 T659I probably benign Het
Pfkm T C 15: 98,129,306 V620A possibly damaging Het
Rbak A G 5: 143,176,600 probably benign Het
Rbl2 A G 8: 91,090,216 I401M probably benign Het
Rragc T C 4: 123,921,059 S183P probably damaging Het
Sept3 A G 15: 82,279,613 probably benign Het
Skiv2l2 T C 13: 112,918,561 probably benign Het
Slc22a6 A T 19: 8,626,214 probably benign Het
Spag4 A T 2: 156,068,497 T348S probably benign Het
Sptbn1 T C 11: 30,104,623 R2157G probably benign Het
Tmem168 G A 6: 13,582,941 T263M probably damaging Het
Tnik T A 3: 28,570,858 probably null Het
Tnpo2 T A 8: 85,050,508 V549E probably damaging Het
Ttll7 A C 3: 146,940,021 K545Q possibly damaging Het
Tubgcp5 T G 7: 55,799,473 D139E probably benign Het
Vmn1r233 T A 17: 20,994,599 N30Y probably damaging Het
Vmn2r25 T G 6: 123,853,003 D63A possibly damaging Het
Vmn2r79 T A 7: 87,037,277 L622Q probably damaging Het
Vmn2r84 T C 10: 130,386,279 M691V probably benign Het
Zc3hc1 A T 6: 30,372,730 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
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
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 2014-05-07