Incidental Mutation 'IGL01077:Nap1l2'
ID 53321
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nap1l2
Ensembl Gene ENSMUSG00000082229
Gene Name nucleosome assembly protein 1-like 2
Synonyms Bpx
Accession Numbers
Essential gene? Not available question?
Stock # IGL01077
Quality Score
Status
Chromosome X
Chromosomal Location 102227782-102230246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102228922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 332 (D332G)
Ref Sequence ENSEMBL: ENSMUSP00000112677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121720]
AlphaFold P51860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000033688
SMART Domains Protein: ENSMUSP00000033688
Gene: ENSMUSG00000031325

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 31 249 3.55e-3 SMART
low complexity region 260 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121720
AA Change: D332G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000112677
Gene: ENSMUSG00000082229
AA Change: D332G

DomainStartEndE-ValueType
low complexity region 48 74 N/A INTRINSIC
Pfam:NAP 110 411 3.6e-84 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is a member of the nucleosome assembly protein (NAP) family. The encoded protein represents a class of tissue-specific factors that interact with chromatin to regulate neuronal cell proliferation. [provided by RefSeq, Jan 2011]
PHENOTYPE: Chimeric embryos with high contribution from heterozygous or homozygous null mutant ES cells exhibit severely abnormal neural tube development and die by embryonic day 14 (E14). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A T 1: 58,096,569 (GRCm39) probably benign Het
Arhgap4 A G X: 72,943,699 (GRCm39) probably benign Het
Ascc3 T G 10: 50,525,413 (GRCm39) probably benign Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Car10 T C 11: 93,487,969 (GRCm39) I222T possibly damaging Het
Cep250 G A 2: 155,804,054 (GRCm39) V55M probably damaging Het
Chst4 T A 8: 110,756,597 (GRCm39) Y422F probably benign Het
Dnajc13 T C 9: 104,108,220 (GRCm39) E185G probably benign Het
Dtx2 T A 5: 136,058,057 (GRCm39) M454K possibly damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ganc C T 2: 120,276,996 (GRCm39) T686M possibly damaging Het
Gm53 C T 11: 96,142,594 (GRCm39) noncoding transcript Het
Gria3 T C X: 40,677,369 (GRCm39) V254A possibly damaging Het
H2-DMb2 G T 17: 34,367,587 (GRCm39) A3S probably damaging Het
H2-DMb2 A G 17: 34,366,694 (GRCm39) Y42C probably damaging Het
Mtrex A T 13: 113,051,023 (GRCm39) I184K probably damaging Het
Myzap T C 9: 71,454,042 (GRCm39) E343G probably damaging Het
Npr1 T G 3: 90,365,669 (GRCm39) D628A probably damaging Het
Raet1e T C 10: 22,057,219 (GRCm39) L181S probably damaging Het
Rnf43 G T 11: 87,622,718 (GRCm39) M606I probably benign Het
Serpinb6b G A 13: 33,162,049 (GRCm39) D283N possibly damaging Het
Slit2 A G 5: 48,374,785 (GRCm39) probably null Het
Supt5 C T 7: 28,023,213 (GRCm39) W323* probably null Het
Svep1 T A 4: 58,068,760 (GRCm39) I3009F possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tll1 T C 8: 64,523,266 (GRCm39) Y482C probably benign Het
Trappc8 G A 18: 20,970,035 (GRCm39) T985I probably benign Het
Zfp945 T C 17: 23,071,359 (GRCm39) K180R probably damaging Het
Other mutations in Nap1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2969:Nap1l2 UTSW X 102,229,254 (GRCm39) missense probably benign
Z1088:Nap1l2 UTSW X 102,228,802 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21