Incidental Mutation 'IGL02597:Nkap'
ID 299917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nkap
Ensembl Gene ENSMUSG00000016409
Gene Name NFKB activating protein
Synonyms 2610020O08Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL02597
Quality Score
Status
Chromosome X
Chromosomal Location 36390448-36414399 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 36411437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016553] [ENSMUST00000046557]
AlphaFold Q9D0F4
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
Abtb3 A G 10: 85,469,665 (GRCm39) Y862C probably damaging Het
Anapc1 T C 2: 128,465,851 (GRCm39) K1648E probably benign Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
Atp7a A T X: 105,113,494 (GRCm39) N34I probably benign Het
Casq2 A G 3: 102,033,953 (GRCm39) Y232C probably damaging Het
Cdan1 A T 2: 120,555,720 (GRCm39) N738K probably benign Het
Cdh24 A G 14: 54,870,972 (GRCm39) V132A possibly damaging Het
Chd5 C A 4: 152,456,169 (GRCm39) T946K probably damaging Het
Clip4 T C 17: 72,156,965 (GRCm39) probably benign Het
Copz2 T C 11: 96,748,425 (GRCm39) probably benign Het
Cyp2c39 C A 19: 39,549,331 (GRCm39) S283* probably null Het
Dlec1 A T 9: 118,963,604 (GRCm39) S973C probably damaging Het
Far1 A T 7: 113,150,463 (GRCm39) T264S probably benign Het
Iqgap1 A G 7: 80,373,633 (GRCm39) L1452P probably damaging Het
Irx5 A C 8: 93,087,400 (GRCm39) N444T possibly damaging Het
Kcnip2 A G 19: 45,784,712 (GRCm39) probably benign Het
Kmt2d A T 15: 98,761,712 (GRCm39) M546K unknown Het
Lrrc37a A G 11: 103,395,113 (GRCm39) L104S probably benign Het
Med12 T C X: 100,328,538 (GRCm39) L1143P probably damaging Het
Mtcl1 T C 17: 66,645,016 (GRCm39) H1477R probably benign Het
Ntmt2 A G 1: 163,544,656 (GRCm39) V109A probably benign Het
Or10a2 A T 7: 106,673,646 (GRCm39) T204S possibly damaging Het
Osbpl6 C T 2: 76,386,318 (GRCm39) Q214* probably null Het
Pex1 C T 5: 3,685,865 (GRCm39) T1202I possibly damaging Het
Prrc2b A T 2: 32,109,625 (GRCm39) N1066I probably damaging Het
Psmg1 T C 16: 95,788,497 (GRCm39) E152G probably damaging Het
Scn10a A G 9: 119,439,189 (GRCm39) I1560T probably damaging Het
Shd A G 17: 56,280,987 (GRCm39) E221G possibly damaging Het
Slc39a4 T C 15: 76,497,824 (GRCm39) T478A probably benign Het
Snx2 A G 18: 53,343,444 (GRCm39) I281V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem161a A T 8: 70,634,693 (GRCm39) R297S probably damaging Het
Tns1 A G 1: 74,025,032 (GRCm39) probably null Het
Ugt2b36 G A 5: 87,228,783 (GRCm39) T420M probably damaging Het
Wdfy4 G A 14: 32,812,818 (GRCm39) R1652* probably null Het
Zap70 T A 1: 36,811,001 (GRCm39) Y178* probably null Het
Zdhhc3 A G 9: 122,929,456 (GRCm39) F60L probably damaging Het
Other mutations in Nkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03355:Nkap APN X 36,403,323 (GRCm39) splice site probably benign
X0064:Nkap UTSW X 36,400,497 (GRCm39) missense unknown
Posted On 2015-04-16