Incidental Mutation 'IGL02597:Nkap'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkap
Ensembl Gene ENSMUSG00000016409
Gene NameNFKB activating protein
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02597
Quality Score
Chromosomal Location37126795-37150746 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 37147784 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016553] [ENSMUST00000046557]
Predicted Effect probably benign
Transcript: ENSMUST00000016553
SMART Domains Protein: ENSMUSP00000016553
Gene: ENSMUSG00000016409

low complexity region 18 47 N/A INTRINSIC
low complexity region 53 108 N/A INTRINSIC
Pfam:NKAP 118 192 5.9e-16 PFAM
low complexity region 210 269 N/A INTRINSIC
Pfam:SynMuv_product 306 407 2.5e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046557
SMART Domains Protein: ENSMUSP00000048773
Gene: ENSMUSG00000036551

low complexity region 20 32 N/A INTRINSIC
low complexity region 64 79 N/A INTRINSIC
low complexity region 125 138 N/A INTRINSIC
low complexity region 160 300 N/A INTRINSIC
low complexity region 351 375 N/A INTRINSIC
low complexity region 388 399 N/A INTRINSIC
Pfam:AKAP28 408 528 9.3e-50 PFAM
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 protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a conditional allele activated in T cells exhibit impaired T cell differentiation at the DN3 stage with increased DN3 T cells and decreased total thymocytes, single positive T cells, and double positive T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kcnip2 A G 19: 45,796,273 probably benign Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Nkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03355:Nkap APN X 37139670 splice site probably benign
X0064:Nkap UTSW X 37136844 missense unknown
Posted On2015-04-16