Incidental Mutation 'IGL02597:Nkap'
ID299917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkap
Ensembl Gene ENSMUSG00000016409
Gene NameNFKB activating protein
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02597
Quality Score
Status
ChromosomeX
Chromosomal Location37126795-37150746 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 37147784 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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