Incidental Mutation 'IGL03355: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 #IGL03355
Quality Score
Chromosomal Location37126795-37150746 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 37139670 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000016553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016553]
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 noncoding transcript
Transcript: ENSMUST00000152906
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik C A X: 107,788,283 V180F possibly damaging Het
Actrt1 T C X: 46,329,747 V213A probably benign Het
Adam28 A T 14: 68,634,803 probably benign Het
Apeh T C 9: 108,086,445 H557R probably benign Het
Atmin T A 8: 116,957,425 L608* probably null Het
B3gnt5 A T 16: 19,769,153 M41L probably benign Het
Best3 T C 10: 116,993,105 F97L possibly damaging Het
Col7a1 G A 9: 108,978,160 V2486M unknown Het
Crym T C 7: 120,199,313 probably null Het
Cubn T C 2: 13,478,057 probably null Het
Dnah7b A G 1: 46,119,304 D349G probably benign Het
Eea1 T C 10: 96,042,212 probably benign Het
Emc1 C T 4: 139,371,593 probably benign Het
Eps8 T C 6: 137,512,145 probably benign Het
Ereg A G 5: 91,088,581 probably benign Het
Faah G A 4: 116,002,528 P369S probably benign Het
Fam135a A T 1: 24,029,168 N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 S622P probably damaging Het
Gm10030 A G 9: 111,006,773 noncoding transcript Het
Gpr179 A T 11: 97,337,608 S1240R possibly damaging Het
Hax1 A T 3: 89,997,447 H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 N31D possibly damaging Het
Kel C T 6: 41,698,887 probably null Het
Khk A T 5: 30,929,560 I108L probably benign Het
Morc4 T C X: 139,849,682 N375S probably null Het
Mta3 A T 17: 83,800,045 probably benign Het
Nacc2 T C 2: 26,062,237 K369R probably damaging Het
Obscn A T 11: 59,037,792 L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 Q20L probably benign Het
Olfr589 T C 7: 103,155,201 E182G probably damaging Het
Pde4c T A 8: 70,746,595 L182Q probably damaging Het
Pla2g10 G T 16: 13,730,420 probably null Het
Rap1gap2 T A 11: 74,412,344 I426F probably damaging Het
Rbm33 C A 5: 28,391,061 probably benign Het
Rnf139 C A 15: 58,900,032 D635E probably benign Het
Sar1a T C 10: 61,684,939 V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 S56A probably benign Het
Scn3a T C 2: 65,460,568 K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 G118R unknown Het
Sgce T A 6: 4,689,738 Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 Y277* probably null Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Sphkap A T 1: 83,280,503 I173N probably damaging Het
Spred3 C T 7: 29,161,572 C394Y unknown Het
Stra6l A G 4: 45,873,689 D283G probably benign Het
Tipin A T 9: 64,288,124 Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 I380F probably benign Het
Tymp T C 15: 89,375,016 D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 S1024P possibly damaging Het
Other mutations in Nkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02597:Nkap APN X 37147784 unclassified probably benign
X0064:Nkap UTSW X 37136844 missense unknown
Posted On2016-08-02